bluuebunny/crossref_metadata_2025 huggingface dataset:
Progressive Numbness, Burning Pain, Imbalance, and Dryness
Authors: Shelly Shahar , Dubey Divyanshu
Published: November 2021

A 65-year-old woman was evaluated for progressive numbness and tingling involving different body parts. Onset was with her right foot. Numbness and paresthesia progressed to her left hand and then left foot. Numbness and tingling of her right hand also developed. Progressive gait instability also developed, leading to frequent falls. She started using a cane to walk. She also reported severe dry eyes and mouth and noticed an inability to sweat in hot weather.

Her neurologic examination showed pseudoathetosis with eye closure and sensory gait ataxia. She had profound vibration and proprioceptive loss in all extremities (lower extremities greater than upper extremities). She also had asymmetric reduction in pinprick sensation in her hands and feet distally. She had minimal distal weakness involving her toes and upper extremities. Her deep tendon reflexes were reduced in the upper limbs and absent in the lower limbs. Toes were downgoing to plantar stimulation.

Nerve conduction studies demonstrated asymmetric, sensory-predominant, axonal peripheral neuropathy with absent left median and ulnar sensory responses and relatively preserved (reduced) right median and ulnar sensory responses. Bilateral sural sensory responses were absent. Motor responses were relatively preserved. Cerebrospinal fluid analysis showed mildly increased protein concentration, and 5 cerebrospinal fluid-restricted oligoclonal bands. Thermoregulatory sweat testing showed anhidrosis involving the proximal limbs and the trunk and hypohidrosis of the forehead and distal extremities. Serum laboratory investigations identified an increased erythrocyte sedimentation rate. Serologic testing was remarkable for positive antinuclear antibody, rheumatoid factor, and Sjögren syndrome-A antibody. Chest computed tomography showed a nonspecific solitary nodule in the right upper lobe but was otherwise normal.

The patient was diagnosed with Sjögren sensory ganglionopathy (or neuronopathy).

The patient received a 12-week course of intravenous methylprednisolone. She was also started on mycophenolate mofetil. Two weeks later, the mycophenolate mofetil dose was increased. At follow-up 4 months later, she reported improvement in neuropathic pain, but the sensory loss and ataxia continued to be treatment refractory.

The presence of sicca symptoms (dry eyes and mouth), polyarthralgias, morning stiffness, and anti-Ro antibody seropositivity were supportive of a Sjögren syndrome diagnosis. Sjögren syndrome has been associated with various neuropathic presentations. Sensory ganglionopathy in Sjögren syndrome usually presents with asymmetrical sensory loss, neuropathic pain, sensory ataxia, and sometimes pseudoathetosis, which were presenting features in this case patient.
Rapidly Progressive Proximal Weakness
Authors: Liewluck Teerin , Milone Margherita
Published: November 2021

A 53-year-old woman had development of subacute-onset muscle weakness resulting in difficulty climbing stairs, rising from a chair, and reaching over her shoulders. She reported no dysphagia, dysarthria, dyspnea, or diplopia. She also disclosed no rash, joint pain, or urine discoloration. She had no history of statin exposure. There was no family history of neuromuscular disorders, early cataracts, cardiac arrhythmia, or cardiomyopathy. Two months of treatment with prednisone had resulted in no clinical improvement. Neurologic examination indicated moderate neck flexor, shoulder, and hip girdle muscle weakness, with sparing of cranial muscles. There was no action- or percussion-induced myotonia. Needle electromyography showed short-duration, low-amplitude, and complex motor unit potentials, predominantly affecting proximal muscles, associated with fibrillation potentials and myotonic discharges in proximal and axial muscles. Her creatine kinase level was increased. Biopsy of the left quadriceps showed variation in muscle fiber size, a moderate increase in internalized nuclei, fiber splitting, and scattered necrotic and regenerating fibers. There was a mild increase in perimysial fibrous and fatty connective tissue. 3-Hydroxy-3-methylglutaryl–coenzyme A reductase antibodies were strongly positive. The patient was diagnosed with hydroxy-3-methylglutaryl–coenzyme A reductase antibody–positive necrotizing autoimmune myopathy. The patient received intravenous immunoglobulin and mycophenolate mofetil while continuing prednisone. At 1-year follow-up, she had no weakness, and her creatine kinase value was normal while she continued taking prednisone, mycophenolate mofetil, and intravenous immunoglobulin. Necrotizing autoimmune myopathy, or immune-mediated necrotizing myopathy, is a subtype of immune-mediated myopathy, clinically characterized by subacute, progressive, proximal limb weakness and persistently increased creatine kinase level. Pathologically, it is characterized by myonecrosis with minimal or no inflammation. One-third of patients with necrotizing autoimmune myopathy have myalgia.
Progressive Weakness and Rash
Authors: Milone Margherita , Liewluck Teerin
Published: November 2021

A 47-year-old man with hypercholesterolemia sought care for a 4-month history of progressive, proximal upper limb weakness and myalgia, followed by dysphagia, difficulty climbing stairs, and facial rash. Discontinuation of atorvastatin was of no benefit. Neurologic examination showed moderate weakness of the neck flexor muscles, shoulder girdle muscles, and finger extensors, and mild weakness of hip flexor and ankle dorsiflexor muscles. He had a heliotrope rash and Gottron sign. Serum testing showed an increased creatine kinase level. Needle electromyography showed myopathic changes with fibrillation potentials in proximal and axial muscles. Biopsy of the deltoid demonstrated a perifascicular pathologic process, including muscle fiber atrophy, and perivascular inflammatory exudate in the perimysium. Immunocytochemical studies showed patchy loss of intramuscular capillaries, some of which had complement (C5b9) deposition, and sarcoplasmic expression of myxovirus resistance protein A, mainly in the perifascicular regions. Immunologic testing was positive for autoantibodies to nuclear matrix protein 2 and negative for 3-hydroxy-3-methylglutaryl–coenzyme A reductase antibodies. Video swallow studies showed oropharyngeal dysphagia. Pulmonary function tests indicated mildly decreased maximal respiratory pressures but normal diffusing lung capacity for carbon monoxide. The findings were consistent with a diagnosis of dermatomyositis. The patient was started on oral prednisone and azathioprine, after checking for adequate thiopurine methyltransferase activity. Liver function tests and complete blood cell count with differential were assessed to monitor for potential azathioprine toxicity. Intravenous immunoglobulin was given. Follow-up examination revealed mild weakness of the shoulder girdle muscles after immunotherapy, and normal strength and creatine kinase value while on azathioprine monotherapy. Dermatomyositis is an idiopathic inflammatory myopathy. Idiopathic inflammatory myopathy is a group of autoimmune muscle diseases that includes dermatomyositis, polymyositis, inclusion body myositis, immune-mediated necrotizing myopathy, and overlap myositis, including antisynthetase syndrome.
Diplopia, Orbital Pain, and Vision Loss in a Middle-Aged Woman
Authors: Webb Lauren M. , Flanagan Eoin P.
Published: November 2021

A 59-year-old woman with type 2 diabetes had development of fluctuating, binocular, painless diplopia. She experienced headache, orbital pain, facial numbness, and progressive vision loss in the left eye. Her left eye vision worsened. Magnetic resonance imaging of the brain and orbit showed bilateral optic nerve enhancement. She started treatment with empiric intravenous corticosteroids for presumed optic neuritis, which resulted in transient improvement. Subsequently, her vision worsened to no light perception in the left eye, and she had fluctuating vision loss in the right eye. Cerebrospinal fluid evaluation was performed because the patient’s fluctuating diplopia and facial numbness suggested involvement of multiple cranial nerves. The cerebrospinal fluid showed white blood cells with lymphocytes, increased protein concentration, and negative oligoclonal bands and cytologic findings. Repeated brain magnetic resonance imaging 1 year after symptom onset showed persistent bilateral (left > right) optic nerve enhancement along with oculomotor nerve and left midbrain enhancement. We recommended left optic nerve biopsy to obtain the diagnosis and attempt to preserve vision in the threatened right eye. Because the patient had no light perception in the left eye for 5 months, with significant pallor of the optic nerve, it was unlikely that she had salvageable left eye vision. Furthermore, there was concern for lymphomatous infiltration of the optic nerve. Confirmation of a lymphoma diagnosis would be critical for initiation of specific chemotherapy. The pathologic analysis identified noncaseating granulomas. The finding of noncaseating granulomas was consistent with neurosarcoidosis infiltrating the left optic nerve. The patient was treated with intravenous methylprednisolone followed by prolonged, high-dose, oral corticosteroids along with corticosteroid prophylaxis of calcium, vitamin D, a proton-pump inhibitor, and dapsone for Pneumocystis prophylaxis Sarcoidosis is a systemic disease of unknown cause that can occur anywhere in the body but most commonly involves the lungs. The pathologic hallmark of sarcoidosis is noncaseating granulomas.
Progressive Asymmetrical Limb Impairment and Cognitive Decline With Leukoencephalopathy
Authors: Keegan B. Mark
Published: November 2021

A 41-year-old man sought care for progressive left-sided impairment over many months consistent with progressive left hemiapraxia and left hemiparesis and cognitive decline. He also exhibited features of the alien limb phenomenon, with the left arm grabbing things involuntarily. He had no prior medical disorders and no family history of significant neurologic disorders. Initial evaluations with brain magnetic resonance imaging showed evidence of bilateral, asymmetrical, severe white matter abnormalities, right greater than left hemisphere. There was no gadolinium enhancement. Cervical and thoracic spine magnetic resonance imaging findings were normal. The magnetic resonance imaging white matter abnormalities progressed over serial imaging. Cerebrospinal fluid assessment was normal except for increased neuron-specific enolase value, without increased white blood cells, immunoglobulin G index, or unique cerebrospinal fluid oligoclonal bands. A brain biopsy of the right hemispheric white matter showed marked axonal spheroids on hematoxylin and eosin staining, as well as on electron microscopy. A diagnosis of sporadic, adult-onset, diffuse leukoencephalopathy with axonal spheroids was made. There are no known treatments for diffuse leukoencephalopathy with axonal spheroids. Treatment is symptomatic only, directed by physical medicine and rehabilitation experts and cognitive experts. Continued rapid worsening of the patient’s ambulatory dysfunction over months required increasing use of gait aids, including a cane and wheelchair. He had development of neurogenic bladder dysfunction and pseudobulbar-associated emotional incontinence. His condition progressed leading to death 29 months after onset of his neurologic dysfunction. This case patient had common features of sporadic, adult-onset, diffuse leukoencephalopathy with axonal spheroids, with progressive neurologic degeneration typically over months to a few years, often with substantial asymmetry in presentation.
Encephalopathy With Alternating Hemispheric MRI Abnormalities
Authors: McKeon Andrew
Published: November 2021

A 21-year-old woman with a long-standing history of migraine sought care at her local provider for a 1-week history of confusion and mixing up her words. She then had a witnessed seizure, with dyscognitive features and secondary generalization. On hospitalization, electroencephalography demonstrated left temporal theta slowing and sharp waves. Magnetic resonance imaging showed patchy T2-signal abnormality, nonenhancing, in the left temporal region (only a report was available). Thyroid peroxidase antibodies were increased at 271 IU/mL. A diagnosis of an autoimmune encephalopathy was made, and the patient was treated with phenytoin, levetiracetam, and high-dose corticosteroids, followed by a slow oral prednisone taper. The patient improved cognitively but had considerable emotional lability and an increase in headache frequency and severity and, thus, sought a second opinion. Blood was drawn for genetic testing. The patient died in her sleep a short time later, most likely in the context of sudden unexplained death in epilepsy. Her genetic testing results became available 1 month later, which showed findings consistent with MELAS syndrome: heteroplasmic sequence variation m.3243A>G (tRNA Leu) and homoplasmic rare variant m.2294A>G (16S rRNA). Encephalopathy or encephalitis of subacute onset with fluctuating course is not unique to autoimmune encephalitis. Common acquired metabolic disorders must be considered and excluded in all cases, such as deficiencies of vitamin B12 and folate, hypothyroidism, sepsis, and central nervous system–active medications.
A History of Sarcoidosis and a New Brain Lesion
Authors: McKeon Andrew , Hammack Julie E.
Published: November 2021

A 59-year-old man with long-standing hypertension sought a second opinion for a left-sided posterior headache and aphasia of approximately 1 week’s duration. Eight months before neurologic symptom presentation, he was febrile with night sweats, weight loss, arthralgias, dyspnea, and wheezing. Bronchoscopy and hilar lymph node biopsy showed noncaseating granulomatous inflammation consistent with pulmonary sarcoidosis. Remotely, as a teenager, given exposure to a family member with active pulmonary tuberculosis infection, he had a purified protein derivative skin test, which was positive; he received 6 months of isoniazid treatment. On examination, he was aphasic but had an otherwise normal neurologic examination. Brain magnetic resonance image performed at hospital admission (1 week after symptom onset) showed extensive T2 signal abnormality in the left temporal neocortex, with vasogenic edema, and abnormal gyriform gadolinium enhancement. There was no restricted diffusion in the left temporal lobe on diffusion-weighted imaging, but an apparent diffusion coefficient map showed a gyriform hypointense pattern. Prior outside magnetic resonance image obtained 1 day into the patient’s symptoms showed similar findings on T2/fluid-attenuated inversion recovery and T1 postgadolinium images but also gyriform hyperintensity on diffusion-weighted imaging, with hypointensity on apparent diffusion coefficient map in the same region. The patient was diagnosed with subacute cerebral infarction in the context of cardioembolic disease secondary to hereditary hypertrophic cardiomyopathy. As a result of the findings and diagnosis, the patient received an implantable cardioverter-defibrillator and was treated with warfarin, aiming for an international normalized ratio of 2.0 to 3.0 to reduce the risk of recurrent cardioembolic disease. The patient had a subacute ischemic stroke mimicking a brain mass radiologically. The acuity of symptom onset could have been a key clinical clue in this case but was absent from the patient history. Patients with stroke typically have hyperacute symptom onset (over seconds to minutes). Autoimmune and inflammatory central nervous system disease symptoms tend to have subacute evolution (over days to weeks) or might be chronic (over months).
Headache and Hemiparesis in Middle Age
Authors: Alvarez Catalina Sanchez , Warrington Kenneth J.
Published: November 2021

A 53-year-old man with hypertension, hyperlipidemia, and a remote, cryptogenic, multifocal, posterior circulation ischemic stroke, came to the emergency department with 1 day of vertigo, ataxic gait, nausea, occipital headache, and painless binocular diplopia. Symptoms were present upon awakening on the day of presentation and progressed throughout the day. The erythrocyte sedimentation rate was 10 mm/h and C-reactive protein level was less than 3 mg/L. Cerebrospinal fluid examination indicated mild lymphocytic pleocytosis with 9 cells/µL, protein value of 45 mg/dL, and glucose level within normal limits. Brain magnetic resonance imaging and magnetic resonance angiography with contrast demonstrated a left caudate head infarction and leptomeningeal and perivascular enhancement involving bilateral temporal lobes, basal ganglia, and frontal lobes. Right middle cerebral artery wall enhancement was also noted. Conventional cerebral angiography showed diffuse dilatation and mural irregularity of the right middle cerebral artery M1 segment, as well as dilatation of the first 2 mm of the left anterior cerebral artery A1 segment. These findings were associated with vessel wall gadolinium enhancement on magnetic resonance imaging, which raised concern for vasculitis. The patient was diagnosed with primary angiitis of the central nervous system. The diagnosis was based on the presence of multiple ischemic infarcts, without cardioembolic source, abnormal brain magnetic resonance imaging and magnetic resonance angiography findings consistent with vasculitis, and the absence of systemic vasculitis, infection, and cancer. After diagnosis, the patient was started on intravenous methylprednisolone, followed by oral prednisone and intravenous cyclophosphamide. Because of some new areas of enhancement on magnetic resonance imaging, the patient was subsequently treated with rituximab. Clinical and radiologic remission was achieved, although the patient had permanent residual gait difficulties. Central nervous system vasculitis is an inflammatory process of the blood vessels in the brain, meninges, and spinal cord. It is called primary angiitis of the central nervous system when the process is limited to the brain and, rarely, the spinal cord. In other circumstances, central nervous system vasculitis can be secondary to a systemic inflammatory syndrome or infectious process.
A 75-Year-Old Man With 5 Days of Progressive Gait Difficulties and Confusion
Authors: Hammack Julie E.
Published: November 2021

A 75-year-old man with a history of chronic obstructive pulmonary disease and ischemic cardiomyopathy was brought to the emergency department after a fall at home. He had a 5-day history of progressive gait disturbance, right-sided weakness, and confusion. He had reported floaters in the right eye for the past month. He was previously well with no history of trauma, fever, anorexia, or change in body weight. Cerebrospinal fluid evaluation showed an increased protein concentration, normal glucose level, no red blood cells, and 4 white blood cells/µL. Cytologic and flow cytometry evaluations were negative. Computed tomograph of the chest, abdomen, and pelvis indicated no adenopathy or visceral lesions. Slitlamp examination of the right eye showed clumps of cells in the vitreous. Vitrectomy was performed, and analysis showed atypical monoclonal B cells consistent with large B-cell lymphoma. The patient was diagnosed with primary central nervous system lymphoma. The patient had an excellent initial clinical response to intravenous corticosteroids (dexamethasone) administered after vitrectomy. Subsequent staging showed no systemic lymphoma. He had hematology-oncology evaluations and was treated with chemotherapy (high-dose intravenous methotrexate, temozolomide, and rituximab) together with intravitreal rituximab for 1 year. He had an excellent clinical and radiographic response to treatment. He remained in complete remission until his death 6 years later (age 81 years) of pneumonia. Primary central nervous system lymphoma accounts for approximately 4% of primary brain tumors and occurs more commonly in persons older than 60 years and those with compromised immune systems. The tumor represents an extranodal form of non-Hodgkin lymphoma and is typically of the diffuse large B-cell type.
Behavioral Change, Seizures, and Temporal Lobe Lesion
Authors: McCarter Stuart J. , McKeon Andrew
Published: November 2021

A 56-year-old man with a history of type 2 diabetes, hypertension, hyperlipidemia, sleep apnea, alcohol use disorder in remission, renal cell carcinoma, and mucinous adenocarcinoma of the lung sought care for evaluation of presumed limbic encephalitis. Six months before evaluation, he had development of anxiety, fatigue, and blurry vision. He was diagnosed with renal cell carcinoma, which was resected. Subsequently, worsening depression developed, which required self-admitted psychiatric hospitalization for suicidal ideation. After discharge he had subacute development of aphasia, inability to recognize family members, and delusions for which he was hospitalized. Brain magnetic resonance imaging demonstrated a large, partly expansile, T2/fluid-attenuated inversion recovery–hyperintense lesion involving the left hippocampus and parahippocampal gyrus, as well as temporal neocortex and white matter, which was interpreted as limbic encephalitis. Spinal fluid analysis showed 66 total nucleated cells/μ‎L with 93% lymphocytes, normal cytologic findings, protein concentration of 66 mg/dL, and 15 erythrocytes/μ‎L. The Kokmen short test of mental status indicated mainly an amnestic profile without delirium, with a total score of 31 of 38. Given the patient’s neuroimaging findings for limbic encephalitis and lack of clear encephalopathy, the initial focus was confirming or ruling out the diagnosis of limbic encephalitis. He underwent repeated cerebrospinal fluid analysis, which showed 3 total nucleated cells/μ‎L with a protein concentration of 67 mg/dL. Serum autoantibody testing showed a low-titer glutamic acid decarboxylase 65-kDa isoform antibody value of 0.17 nmol/L. Brain magnetic resonance imaging 3 months after his initial magnetic resonance imaging showed slight progression of the expansile, left temporal lobe, T2-hyperintense lesion, further involving the left parietal lobe white matter, temporal lobe neocortex, and splenium of the corpus callosum, without clear gadolinium enhancement. A diagnosis of anaplastic astrocytoma (World Health Organization grade III) was made. He was treated with temozolomide and radiotherapy, with radiographic improvement. However, he had development of medically refractory focal seizures with secondary generalization. Approximately 3 years after his initial diagnosis, the patient experienced functional decline, with brain magnetic resonance imaging demonstrating multiple new, bihemispheric, T2-hyperintense lesions concerning for multifocal glioma. Given his poor prognosis and functional status, the patient was transitioned to comfort care. The presentation of disease in this patient highlights the importance of neuroimaging interpretation in the context of clinical history. Although this case patient had some features that could suggest a paraneoplastic limbic encephalitis—including behavioral changes, seizure, systemic malignancy, and apparent clinical response to immunosuppression—several features were inconsistent with this diagnosis.
Seizures and Enhancing Brain Lesions
Authors: Honorat Josephe Archie , McKeon Andrew
Published: November 2021

A 51-year-old man sought care for a 4-month history of generalized seizures. The description of his seizures was consistent with generalized tonic-clonic seizures with focal onset. The patient had no history of head trauma or central nervous system infection and no family history of seizures. The patient reported having visual disturbances for 2 years before the seizures. His medical and surgical history was unremarkable. Brain magnetic resonance imaging showed left temporo-occipital, white matter, T2-signal intensity with gadolinium-enhancing lesions. Brain magnetic resonance imaging showed patchy gadolinium enhancement with T2 hyperintensity in the left parietotemporal and occipital lobes. Brain biopsy of the left temporal lobe showed white matter lesions with necrosis and chronic infiltration with macrophages and CD3-positive T lymphocytes and a predominant perivascular distribution. Focal, secondary vasculitis was present. There was no evidence of lymphoma. A repeated brain biopsy of the parietal lobe after another inflammatory relapse showed pathologic findings identical to the first biopsy. The patient was diagnosed with inflammatory encephalitis without additional defining features on biopsy. The patient received levetiracetam for seizure control, but the seizures remained refractory. He then was treated with high doses of intravenous methylprednisolone and then oral prednisone. Simultaneously, mycophenolate mofetil was initiated. The patient was monitored every 3 months with complete blood cell counts and liver function tests. Three months later, the prednisone dose was slowly tapered. During that process, the patient had no new seizures, and brain magnetic resonance imaging showed no active inflammation. After discontinuation of corticosteroids, the patient had a relapse with a generalized seizure, and brain magnetic resonance imaging showed new gadolinium-enhancing lesions. Prednisone was resumed, with near-remission. He then reinitiated mycophenolate mofetil and continued levetiracetam. With this regimen he remained clinically and radiologically stable, with only occasional visual phenomena that were possibly epileptic, although follow-up electroencephalography when he was symptomatic was normal. Encephalitis of unknown origin represents approximately one-third of cases. This proportion is decreasing over time with the development of novel diagnostic technologies, such as sequencing techniques to identify causative infectious agents and advances in neural autoantibody diagnostics.
A Man With Recurrent Headache and Focal Neurologic Deficits
Authors: Duvall Jaclyn R. , Swanson Jerry W.
Published: November 2021

A 42-year-old healthy man sought care for transient episodes of neurologic deficits followed by severe headache. The first episode began with left hand weakness, numbness, and dysarthria, followed approximately 1 hour later by a right temporal headache. His symptoms spontaneously resolved after 8 hours. He had a second episode 2 days later manifested by confusion and bilateral lower extremity numbness, again followed by severe headache with symptoms resolving within 12 hours. A total of 8 episodes occurred over 3 weeks, each lasting 8 to 24 hours, with spontaneous resolution each time. His most recent episode occurred during cerebral angiography. Cerebrospinal fluid evaluation showed opening pressure, 190 mm H2O; white blood cells, 205/μ‎L, 97% lymphocytes; protein, 95 mg/dL; and glucose, 40 mg/dL. Electroencephalography demonstrated right greater than left generalized slowing, with increased-voltage rhythmic delta wave activity, in the frontal regions predominantly. Conventional cerebral angiography findings were normal, but the test appeared to provoke the patient’s previous episode. Neurologic examination was normal after his most recent episode resolved, and no further episodes were reported. This case highlights a typical presentation of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis. Because the disorder was self-limited, treatment was aimed at symptomatic management of headache. In this case patient with a secure diagnosis of headache and neurologic deficits with cerebrospinal fluid lymphocytosis and stereotypical episodes limited to 3 months after the initial presentation, additional testing was not indicated. Headache and neurologic deficits with cerebrospinal fluid lymphocytosis is a rare, self-limited, benign condition with migrainelike headache episodes accompanied by transient neurologic deficits usually lasting more than 4 hours, with some deficits lasting more than 24 hours.
Headache, Radicular Pain, and Enhancing Lesions
Authors: Tobin W. Oliver
Published: November 2021

A 37-year-old right-handed woman sought care for a dull headache present for 6 months, which was followed by the development of radicular pain in the left leg radiating down the back of her leg into her foot, with associated left foot numbness. Magnetic resonance imaging of the lumbar spine showed an enhancing lesion within the conus. She was referred for neurosurgical evaluation and underwent magnetic resonance imaging of the entire neuraxis, which showed an enhancing lesion in the left cerebellum. She underwent a left cerebellar debulking surgical procedure. Postoperative diplopia developed for approximately 1 month and then subsequently resolved. She walked with a walker after surgery, with progressive deterioration in gait. Two months after surgery a postural tremor developed in the left arm and leg. She was referred for neurologic evaluation. Pathologic evaluation of cerebellar tissue showed foamy histiocytes and xanthomatous cells that stained positive for CD68 (KP1). Staining for CD1a was negative. Tissue immunohistochemistry for the BRAF V600E sequence variation was negative. No hyponatremia was detected. Positron emission tomography/computed tomography of the body from vertex to toes indicated hypermetabolism in the distal femur and proximal tibia. Examination and imaging findings were consistent with a diagnosis of multifocal Erdheim-Chester disease. The patient was initially treated with pegylated interferon, with clinical and radiographic progression. She was subsequently treated with vemurafenib and dexamethasone, with continued radiologic progression. Treatment with radiotherapy and cladribine were also unsuccessful. At that point, next-generation sequencing of cerebellar tissue showed a BRAF V471F sequence variation. She was then treated with trametinib, which resulted in a decrease in size of the cerebellar lesion and growth stabilization of the conus lesion. Histiocytic neoplasms are a heterogeneous group of multisystem disorders, primarily including Erdheim-Chester disease, Langerhans cell histiocytosis, and Rosai-Dorfman disease. Although initially thought to represent inflammatory processes, recent insights into their genomic architecture have shown that they are derived from macrophage-lineage neoplasms.
Progressive Imbalance and Visual Impairment in a Patient With Diabetes
Authors: Kumar Neeraj
Published: November 2021

A 72-year-old man with hypothyroidism and type 2 diabetes sought care for a 3-year history of slowly progressive, ascending lower limb paresthesias and imbalance. Three months earlier, he noted subacute onset of finger numbness and substantial worsening of imbalance with infrequent falls. He also had a 1-year history of progressive visual decline that persisted despite cataract surgery. Additional symptoms included intermittent light-headedness and confusion.

Laboratory evaluations showed a decreased hemoglobin value and an increased mean corpuscular volume. Macrocytic red blood cells were noted on a peripheral blood smear. Serum vitamin B12 level was less than 70 ng/L. Levels of plasma homocysteine and serum methylmalonic acid were markedly increased to 375 µmol/L and 143 nmol/L, respectively. Serum copper level was normal. Serum parietal cell antibodies were increased to 46 U, and intrinsic factor antibodies were absent. Serum gastrin was markedly increased.

The clinical presentation in this patient suggested a myeloneuropathy. His vitamin B12 level was undetectable and accompanied by a macrocytic anemia and increased methylmalonic acid and homocysteine levels. Even though intrinsic factor antibodies were negative, the clinical picture was supportive of subacute combined degeneration in the setting of pernicious anemia.

The patient was started on vitamin B12 replacement. At 6-month follow-up he had striking improvement in gait and vision. The light-headedness and confusion were no longer present. His examination was remarkable only for mild impairment, with tandem gait and a slightly positive Romberg sign. The lower limb reflexes were reduced. Impaired position perception at the toes persisted, but vibration perception in the lower limbs improved. Laboratory investigations showed normalization of the hemoglobin, vitamin B12, methylmalonic acid, and homocysteine levels. The serum gastrin level had improved but was still increased at 742 pg/mL.

The best-characterized neurologic manifestations of vitamin B12 deficiency include myelopathy and myeloneuropathy. Autonomic neuropathy, optic neuropathy, and neuropsychiatric manifestations have also been reported. Neurologic manifestations may occur without evidence of the characteristic hematologic derangement, megaloblastic anemia. Macrocytosis or hypersegmented neutrophils on peripheral blood smear may be clues.
The basics
Authors: Gupta Sunanda , Holloway Debra , Chrimes Jenny
Published: November 2021

This chapter covers the basic knowledge required for good care of the woman. It explains the reproductive anatomy, the menstrual cycle, and the physiology of conception. It then describes history taking and physical examinations associated with women’s health, diagnostic tests, consent and confidentiality, and taking good records. General processes, including infection control, health and safety control of hazardous substances, adult safeguarding, disability, and domestic abuse are all covered. Finally risk management and clinical governance are explained.
Menstrual and bleeding disorders
Authors: Gale Katherine , Kubba Ali , Holloway Debra
Published: November 2021

This chapter covers disorders of the menstrual cycle and associated bleeding disorders. It starts with the definitions, assessment, and diagnosis of menorrhagia, its causes, and different medical and surgical treatments. It also covers the assessment and treatment of dysmenorrhoea, pre-menstrual syndrome (PMS), and inter-menstrual bleeding. Subsequently post-coital bleeding assessment and investigations are detailed, along with post-menopausal bleeding.
Other disorders of women’s health
Authors: Gale Katherine , Tye Claudia , Kubba Ali , Gupta Sunanda
Published: November 2021

This chapter covers other disorders that are not covered elsewhere in this book. It includes fibroids, endometriosis, chronic pelvic pain, benign ovarian tumours, vulval disorders (cysts, dermatosis, intraepithelial neoplasia, and vulval pain), and female genital mutilation. For each diagnosis it gives definitions, assessment, diagnosis, and treatment regimes. For endometriosis, both surgical and medical treatments are discussed.
Sexual health
Authors: Mckenzie Victoria , Frodsham Leila , Holloway Debra
Published: November 2021

This chapter covers problems that can occur with sexual health in women. It starts with the definition, assessment, diagnosis, investigations, and treatment of different sorts of vaginal discharge. It provides information about sexual health in context, including its links with other forms of disease and psychological well-being. Protocols for partner notification in the cases of diagnosis with a sexually transmitted disease are explained. The signs, symptoms, and treatment for gonorrhea, chlamydia, and Mycoplasma genitalium are all covered. It also covers the definition, causes, diagnosis, and treatment of pelvic inflammatory disease. Hepatitis B and C are described, along with anogenital warts, genital herpes, and genital lumps and ulcers. Finally HIV and new developments such as PrEP and PEP are covered.
Bladder and urogenital prolapse
Authors: Stewart Ellie
Published: November 2021

This chapter covers problems that can occur with the bladder, and then pelvic organ prolapse. It provides an assessment of urinary incontinence, and associated investigations, followed by an overview and treatment for overactive bladder (OAB). An overview of urinary stress incontinence is covered, along with both specialist and conservative treatments. Uroflowmetry and urodynamics are described. Pelvic organ prolapse and its treatment is covered, along with vaginal pessaries and surgical treatment. Cystitis, continence products, and all aspects of urinary catheters including trouble-shooting are covered.
Nursing care of gynaecological patients in hospital
Authors: Chrimes Jenny
Published: November 2021

This chapter looks at the care of the gynaecological patient within the hospital setting. It starts with pre-operative care, principles of enhanced recovery, the admissions process, post-operative complications and wound infections. The psychological impact of patients in gynaecological settings, the practical care of the patient, and long-stay and outpatient advice is given. It then covers the diagnosis, operative and post-operative care of hysterscopy, laparoscopic surgery, and major gynaecological surgery. Finally, different types of hysterectomy, their indications, and post-operative care are explained, and the chapter concludes with other surgical procedures.
Unwanted fertility
Authors: Fletcher Joanne
Published: November 2021

This chapter covers unwanted fertility, or abortion. It provides an overview of abortion and the legal aspects surrounding it in the United Kingdom, followed by the nurse’s role in abortion provision. It outlines the pre-abortion assessment process, and then both the methods and timings for the surgical termination of pregnancy (STOP) and the medical termination of pregnancy (MTOP). Finally, complications and risks - including both physical and psychological - associated with abortion are discussed.
Early pregnancy problems
Authors: Phillips Fiona
Published: November 2021

This chapter covers the role of the early pregnancy assessment unit, the care of women with bleeding or pain in early pregnancy, the definition, causes, assessment, and treatments for miscarriage, as well as caring for the patient who experiences recurrent miscarriage. The diagnosis, assessment, and both medical and surgical management of ectopic pregnancy is explained. Nausea, vomiting, hyperemesis gravidarum, and psychological care in early pregnancy are also all covered.
Care of the patient in emergency gynaecology units
Authors: Phillips Fiona
Published: November 2021

This chapter covers gynaecological emergencies. This includes heavy vaginal bleeding, both within and outside pregnancy, acute pain, and post-operative problems.
Colposcopy
Authors: Jokhan Aggie , Aburam Joyce , Sinfield Emma , Holloway Debra
Published: November 2021

This chapter begins with an overview of the NHS cervical screening programme, then describes ways of taking samples for liquid-based cytology. The colposcopy procedure is detailed, and indications for referral are listed. Subsequent treatment and follow-up are explained, and the role of the nurse in cervical screening in primary care is covered. The human papilloma virus, testing, and vaccines are included, along with the clinical features and management of cervical polyps, and cervical ectropion are explained.
Breast
Authors: Kubba Ali
Published: November 2021

This chapter begins with a short introduction to the role of the breast complaint in a gynaecological setting, and how nurses can encourage breast awareness and participation in screening programmes. It then goes on to cover breast pain (mastalgia), various benign breast conditions, and breast history and examination. It describes screening and diagnosis of breast disease, the current clinical picture and treatment options for breast cancer, alongside associated risk factors and prevention.
Lifestyle issues
Authors: Gupta Sunanda
Published: November 2021

This chapter covers general lifestyle issues in women’s health. It includes elements such as diet (the role of fruit and vegetables, red and/or processed meat, dairy, and alcohol), smoking, and obesity. It also covers transgender care and the gender identity clinic.
Adrenal
Authors: Tomlinson Jeremy
Published: November 2021

This chapter covers the adrenal gland. It begins with the anatomy and physiology of the adrenal gland, then continues with imaging techniques. It then covers adrenal disorders, including Conn’s syndrome, adrenal Cushing’s syndrome, Adrenal insufficiency, Addison’s disease, and multiple autoimmune disorders. The investigation, treatment, and long-term management of primary insufficiency is covered. Various adrenal tumours and associated disorders, along with their management, are described.
Transitional endocrinology
Authors: Gleeson Helena
Published: November 2021

This chapter covers endocrine concerns in the age group 10-24 years. It starts with an overview of transitional endocrinology and biopsychosocial development, aspects of developmentally appropriate healthcare, and how to perform a consultation for adolescents and young adults. It covers common clinical endocrine presentations of young people during adolescence, and how to approach a young person with an endocrine condition undergoing transition into adult care. The management of young people with hypopituitarism and growth hormone deficiency is outlined.
Endocrinology and ageing
Authors: Brooke Antonia , McGovern Andrew
Published: November 2021

Ageing causes changes in many hormonal areas. This chapter begins with an overview of these changes, and goes on to bone disease in the elderly, changes in growth hormones and IGF-1, differences in gonadal function and adrenal function, and then thyroid and pituitary disease in the ageing patient.
Endocrinology aspects of other clinical or physiological situations
Authors: Brooke Antonia , Hirwa Kagabo , Higham Claire , Lewis Alex
Published: November 2021

This chapter covers endocrine aspects of a variety of conditions and situations. It explains the symptoms and investigations of hypoglycaemia along with its management; mastocytosis, cancer and the associated endocrine sequalae of survivors of childhood cancer, syndromes of ectopic hormone production, and associated disorders. It then covers the effects on endocrinology on liver and renal diseases, and in the critically ill. Differential diagnosis of endocrine disorders is outlined, alongside the effects of stress and exercise on the endocrine system. Finally, alternative therapies are discussed.
Genetic testing in endocrinology
Authors: Korbonits Márta , Newey Paul
Published: November 2021

This chapter begins with describing the genetic basis of endocrine disease, and the potential utility for genetic testing (alongside consent). It then covers different types of genetic tests and their applications. There is a section on pituitary adenomas, MEN types 1 and 4, familial isolated pituitary adenoma, and various other genetic conditions related to the endocrine system.
Pitfalls in laboratory endocrinology
Authors: Trainer Peter , Monaghan Phillip
Published: November 2021

The utility of laboratory investigations in endocrinology depend on the selection of the appropriate test and careful interpretation. This chapter goes into common pitfalls, including pre-analytical and analytical factors influencing investigations, examples of within-person variation, common measures of hormone measurement, and post-analytical factors.
Preoperative considerations
Authors: Blincoe Tom , Densham Ian , Kotwinski David
Published: November 2021

This new chapter gives an overview of the management principles at the start of a patient’s perioperative journey. It includes preoperative assessment with detail on history, examination, investigations, consultation models, functional assessment (including CPET), risk assessment, outcomes, shared-decision making and consent. It also outlines preoptimisation with a focus on prehabilitation and lifestyle modifications. It gives up-to-date information on fasting, VTE prophylaxis, antibiotic prophylaxis, anaemia and iron deficiency, the perioperative management of patients’ usual medications and herbal medicines, and the use of premedicants. Finally, it outlines the principles of enhanced recovery and emphasizes the importance of postoperative planning.
Preoptimisation
Authors: Blincoe Tom , Kotwinski David , Densham Ian
Published: November 2021

This chapter focuses on the collaborative approach taken to get patients as fit for surgery as possible in the time frame available. It examines how the preoperative team work together with hospital specialists and GPs to identify and minimise risk factors for postoperative complications, focusing on prehabilitation, blood management, fasting, venous thromboembolism prophylaxis, antibiotic prophylaxis, perioperative medications, herbal medicines, and premedicants.
Renal disease
Authors: Milner Quentin
Published: November 2021

This chapter describes the anaesthetic management of the patient with renal disease. The topics include estimation of renal function; chronic kidney disease; renal replacement therapy (including haemodialysis); acute renal failure, and the patient with a transplanted kidney. For each topic, pre-operative investigation and optimisation, treatment, and anaesthetic management are described. The effects of impaired renal function on the elimination of anaesthetic drugs are discussed.
Bone, joint and connective tissue disorders
Authors: Howell David
Published: November 2021

This chapter describes the anaesthetic management of the patient with those musculoskeletal disorders which are relevant to anaesthetic practice. Topics covered include rheumatoid arthritis, ankylosing spondylitis, systemic lupus erythematosus (SLE); systemic sclerosis; scoliosis and achondroplasia. For each topic, pre-operative investigation and optimisation, treatment, and anaesthetic management are described.
Psychiatric disorders
Authors: O’Donnell Aidan
Published: November 2021

This chapter describes the anaesthetic management of the patient with those psychiatric disorders which are relevant to anaesthetic practice, including dementia, alcoholism and anorexia nervosa. Psychiatric medications which can affect anaesthetic practice are described, including monoamine oxidase inhibitors (MAOI), antipsychotic drugs and lithium. Anaesthesia for drug-misusing patients and electroconvulsive therapy (ECT) is described. Sedation of agitated patients on the ward is discussed.
Getting started
Authors: Marroquin-Harris Mincho
Published: November 2021

This chapter provides a basic overview of anaesthetic equipment and its safe use. Topics include the provision of anaesthetic gases, the basic components of the anaesthetic machine, breathing systems, positive-pressure ventilation, and airway equipment including laryngoscopes, endotracheal tubes and supraglottic airway devices. Methods of long-term venous access are discussed.
Blood products and fluid therapy
Authors: Eaddy Nicholas , Cardinal Alexandra
Published: November 2021

This chapter describes the blood products which are commonly required as part of anaesthetic practice, including red cells, plasma, cryoprecipitate, platelet concentrate, and concentrated coagulation factor preparations. The essential components of patient blood management, aiming to reduce the requirement for transfusion, are described. The principles and practice of massive blood transfusion are described. The specific management of Jehovah’s Witnesses, and other patients who decline blood transfusion, is discussed. The chapter finishes with a discussion of the common intravenous fluid preparations which are used in practice, and how to use them appropriately.
Neurosurgery
Authors: Nickols Gemma , Goswami Amit
Published: November 2021

This chapter discusses the anaesthetic management of neurosurgery. It begins with general principles of neurosurgery, including management of intracranial pressure. Surgical procedures covered include craniotomy (including awake craniotomy); insertion of ventriculo-peritoneal (VP) shunt; evacuation of traumatic intracranial haematoma; pituitary surgery; posterior fossa surgery; and interventional radiology treatment of intracranial vascular lesions (with particular attention to subarachnoid haemorrhage (SAH)). The management of venous air embolism is described, along with a discussion of the particular circumstance of resuscitation during neurosurgery.