OpenMed/multicare-articles huggingface dataset:
Physiotherapy and Rehabilitation in a Child with Joubert Syndrome
Authors: Özge İpek, Özge Akyolcu, Banu Bayar
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Objective:
Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS.
Materials and methods:
Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM). The case was included in the rehabilitation program by the physiotherapist for one hour for five days a week throughout the period of 13 months in accordance with the neurodevelopmental treatment principles.
Results:
The case was able to turn around from the supine position to the reverse direction by oneself, and she was able to rise on her forearms facedown and was able to sit, crawl, and walk independently. The GMFM score was 210, whereas WeeFIM score was 65.
Discussion:
In the direction of those findings, in Joubert Syndrome, physiotherapy and rehabilitation can be effective in coping with the symptoms causing developmental delay.
Childhood Cogan syndrome with aortitis and anti-neutrophil cytoplasmic antibody-associated glomerulonephritis
Authors: Keisuke Sugimoto, Tomoki Miyazawa, Hitomi Nishi, Akane Izu, Takuji Enya, Mitsuru Okada, Tsukasa Takemura
Journal: Pediatr Rheumatol Online J (2014)
Keywords: childhood onset, proteinuria, sensorineural hearing loss, steroid therapy, tubulointerstitial nephropathy, vertigo
MeSH terms: Aortitis / diagnosis, Aortitis / drug therapy, Aortitis / physiopathology, Aspirin / administration & dosage, Cataract / diagnosis, Cogan Syndrome / blood, Cogan Syndrome / diagnosis, Cogan Syndrome / drug therapy, Cogan Syndrome / physiopathology, Cyclosporine / administration & dosage, Glomerulonephritis / diagnosis, Glomerulonephritis / drug therapy, Glomerulonephritis / physiopathology, Hearing Loss, Sensorineural / diagnosis, Prednisolone / administration & dosage, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adult, Antibodies, Antineutrophil Cytoplasmic / blood, Antirheumatic Agents / administration & dosage, Disease Progression, Humans, Kidney / pathology, Kidney Function Tests, Magnetic Resonance Angiography, Male, Antibodies, Antineutrophil Cytoplasmic, Antirheumatic Agents, Cyclosporine, Prednisolone, Aspirin

Cogan syndrome is a systemic disease manifesting interstitial keratitis, sensorineural hearing loss, tinnitus, and rotatory vertigo. Renal complications of this syndrome are very rare. We encountered an adolescent with Cogan syndrome complicated by aortitis and anti-neutrophil cytoplasmic antibody (ANCA)-associated glomerulonephritis. At the age of 14, the patient showed proteinuria in a screening urinalysis at school and was found to lack a right radial pulse. Magnetic resonance angiography disclosed right subclavian artery stenosis. Examination of a renal biopsy specimen showed ANCA-positive crescentic glomerulonephritis. Steroid and immunosuppressant treatment improved renal function and histopathology, but repeated recurrences followed. At 18, the patient developed rotatory vertigo, a sense of ear fullness, and sensorineural hearing loss. The patient was diagnosed with Cogan syndrome. We know of no previous description of ANCA-positive crescentic glomerulonephritis in children with Cogan syndrome. Accordingly, evaluation of aortitis in childhood should include not only otolaryngologic and ophthalmologic examinations, but also periodic urine examination and renal function tests.
A Rare Case of Secondary Bacterial Peritonitis from Clostridium perfringens in an Adult Patient with Noncirrhotic Ascites and a Krukenberg Tumor: Report of a Case
Authors: Scott R Kelley, George M Kerlakian
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Secondary bacterial peritonitis, in comparison to spontaneous, presents with a surgically treatable intraabdominal source for infection such as a gastrointestinal perforation or abscess and is nearly always polymicrobial. We present a rare case of secondary bacterial peritonitis from Clostridium perfringens in an adult patient with noncirrhotic ascites and a Krukenberg tumor.
Multiple Myeloma-Like Spinal MRI Findings in Skeletal Fluorosis: An Unusual Presentation of Fluoride Toxicity in Human
Authors: Javed Ahsan Quadri, Mohd Meraj Alam, Saba Sarwar, Ashraf Ghanai, A Shariff, Taposh K Das
Journal: Front Oncol (2016)
Keywords: m-protein electrophoresis, mri, dual-energy x-ray absorptiometry, fluorotic myelopathy, neoplastic bone marrow infiltration, spinal fluorosis
MeSH terms: Case Reports

Endemic fluorosis is a worldwide environmental problem due to excessive fluoride, commonly due to increased drinking water fluoride levels but sometimes due to other sources such as food with high fluoride content. In India, 21 of the 35 states are known to have health problems associated with fluoride toxicity. The present report is a case of a 50-year-old female who was seen with progressive spinal complications and a MRI of the spine suggestive of multiple myeloma. The MRI of the lumbosacral spine showed a diffuse and heterogeneous marrow signal of the lower dorsal and lumbosacral vertebrae. The MRI was also suggestive of coarse trabeculation and appeared predominantly hypointense on the T1W image and had mixed signal intensity on the T2W image. These findings were suggestive of neoplastic bone marrow infiltration and the presence of a proliferative disorder, with multiple myeloma being the most likely. During the patient workup, it was found that other family members were also having similar complications and, after investigation of these family members, it was found that they are suffering from systemic fluorosis. The patient was then evaluated for skeletal fluorosis, and this condition was found to be present. Multiple myeloma was ruled out by the finding of a negative serum protein electrophoresis. The spinal complications appeared to be mainly due to the compression of the spinal cord and nerve roots by protruding osteophytes, thickening of the posterior longitudinal ligament, and thickening of the ligamentum flavum resulting in a compressive myeloradiculopathy and compressive myelopathy. The finding of multiple myeloma-like findings on the spinal MRI in association with skeletal fluorosis was considered to be a very rare event. This case report underlines the need to consider the presence of spinal skeletal fluorosis when evaluating spinal complications with unusual pseudo-multiple myeloma-like changes on the spinal MRI.
Case Report: Candida dubliniensis as a Cause of Chronic Meningitis
Authors: Madiha Tahir, Andrew M Peseski, Stephen J Jordan
Journal: Front Neurol (2020)
Keywords: candida dubliniensis, case report, chronic meningitis, fungal meningitis, hepatitis c, intravenous drug use
MeSH terms: Case Reports

Background: Candida dubliniensis is closely related to Candida albicans and rarely isolated in clinical specimens. C. dubliniensis is increasingly recognized as a pathogen in immunocompromised hosts. We present the third known case of Candida dubliniensis meningitis in a young immunocompetent host. Case Presentation: A 27-year-old female with a history of intravenous heroin use and chronic hepatitis C presented with a 10-month history of headaches and progressive bilateral vision loss. On physical examination, visual acuity was 20/20 in her right eye and grade II papilledema was noted. Examination of her left eye revealed complete loss of vision and grade IV papilledema. An MRI with and without contrast revealed increased leptomeningeal enhancement involving the posterior fossa and spinal cord. After multiple lumbar punctures, cerebrospinal fluid fungal cultures grew Candida dubliniensis. The patient was successfully treated with a combination of liposomal amphotericin and fluconazole for 6 weeks with complete resolution of her CNS symptoms, with the exception of irreversible vision loss. Conclusion: We report a case of chronic meningitis due to Candida dubliniensis in an immunocompetent woman with hepatitis C and a history of intravenous heroin use. Additional studies are needed to confirm risk factors for Candida dubliniensis colonization, which likely predisposes individuals to invasive candidiasis.
Ovarian Crohn's Disease: A Case Report and Review of the Literature
Authors: Hamza Mohammed, Rana Bokhary, Mohammed Nassif, Mahmoud Mosli
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

We present to you a rare case of Crohn's disease involving the ovary in a 28-year-old nulligravida Eritrean patient. This is considered a rare manifestation of Crohn's disease that is believed to be due to fistulization between the ovary and intestines.
The First Case Report of West Nile Virus-Induced Acute Flaccid Quadriplegia in Canada
Authors: Yahya Salim Yahya Al-Fifi, Kamran Kadkhoda, Mike Drebot, Beverly Wudel, E J Bow
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

The 1999 New York City outbreak of West Nile virus (WNV) was associated with a high incidence of West Nile virus neuroinvasive disease (WNVND) where the outcomes for these patients were very poor. We describe a case of West Nile virus neuroinvasive disease (WNVND) characterized by acute flaccid quadriplegia with a favorable outcome in Winnipeg, Manitoba, Canada.
Successful treatment of a pure red-cell aplasia patient with γδT cells and clonal TCR gene rearrangement: A case report
Authors: Xian Li, Xinyi Zhu, Xiaohong Zhang, Weiqin Wang
Journal: Front Immunol (2023)
Keywords: t-cell receptor gene rearrangement, case report, flow cytometry, pure red-cell aplasia, γδt cell
MeSH terms: Autoimmune Diseases / genetics, Red-Cell Aplasia, Pure / drug therapy, Red-Cell Aplasia, Pure / genetics, Case Reports, Aged, Cyclosporine / therapeutic use, Gene Rearrangement, Humans, Positron Emission Tomography Computed Tomography, Receptors, Antigen, T-Cell / genetics, Cyclosporine, Receptors, Antigen, T-Cell

Pure red-cell aplasia (PRCA) is a syndrome associated with reduced erythroid precursors. This report presents the case of an elderly PRCA patient with significantly proliferated γδT cells and clonal T-cell receptor (TCR) gene rearrangement. The cause of this patient's PRCA was confirmed to be an autoimmune disorder rather than malignancy on the basis of flow cytometry, TCR gene rearrangement, and positron emission tomography/computed tomography (PET/CT) findings. Moreover, the γδT cell group identified in this case was captured for the first time under the microscope; this CD4+/CD8- (extremely high CD4/CD8 ratio) population is rare in PRCA patients. Our patient with a monoclonal and polyclonal hybrid of TCR gene rearrangement was sensitive to cyclosporin A (CsA), despite previous reports suggesting that patients with TCR clonal rearrangement may respond poorly to this drug. Overall, this case presents valuable clinical findings for the future diagnosis and management of PRCA caused by autoimmune conditions and further research on γδT cells' autoimmune pathophysiology and gene rearrangement.
Atypical presentation of thoracic disc herniation: case series and review of the literature
Authors: Ali Shirzadi, Doniel Drazin, Sunil Jeswani, Leah Lovely, John Liu
Journal: Case Rep Orthop (2013)

Modern imaging has revealed that thoracic disc herniation (TDH) has a prevalence of 11-37% in asymptomatic patients. Pain, sensory disturbances, myelopathy, and lower extremity weakness are the most common presenting symptoms, but other atypical extraspinal complaints, such as gastrointestinal or cardiopulmonary discomfort, may be reported. Our objective is to make providers familiar with TDH's atypical symptoms to help avoid potential serious consequences created by a delay in diagnosis. We report the cases of two patients who each presented with atypical extraspinal symptoms secondary to a TDH. One patient presented with a chronic history of nausea, emesis, and chest tightness and MRI showed a large right paramedian disc herniation at T7-8. A second patient reported chronic constipation, buttock and leg burning pain, gait instability, and urinary frequency; an MRI of his thoracic spine demonstrated a central disc herniation at T10-11. TDH can present with vague extraspinal symptoms and unfamiliarity with these symptoms can lead to misdiagnosis with progression of the disease and unnecessary diagnostic tests and medical procedures. Therefore, TDH should be included in the differential diagnosis of patients with negative gastrointestinal, genitourinary, and cardiopulmonary system basic studies.
Unusual placement of intrathecal baclofen pumps: report of two cases
Authors: Oliver Devine, Andrew Harborne, William B Lo, Daniel Weinberg, Mahesh Ciras, Rupert Price
Journal: Acta Neurochir (Wien) (2016)
Keywords: baclofen, cerebral palsy, intrathecal baclofen, intrathecal device, spastic diplegia, spasticity
MeSH terms: Baclofen / administration & dosage, Infusion Pumps, Implantable / adverse effects, Muscle Relaxants, Central / administration & dosage, Muscle Spasticity / drug therapy, Reoperation / methods, Case Reports, Adult, Humans, Male, Muscle Relaxants, Central, Baclofen

Intrathecal baclofen delivery via implantable pump represents an important modality for symptomatic relief in patients with chronic spasticity. Pumps are routinely implanted subcutaneously in the anterior abdominal wall. We describe two unusual cases where skin-related complications necessitated revision surgery in order to relocate the pump to alternative sites. The first patient was an international power canoeist, whose strenuous exercise programme interfered with his pump's original siting. The second patient was a cachectic university student with a history of cerebral palsy, who maintained low body mass despite attempted weight gain. The relocation of these two intrathecal devices to the medial compartment of the right thigh and right iliac fossa, respectively, is described.
Fourteen (14) months follow up of traumatic sciatic neuritis due to intramuscular injection: a case report
Authors: Ashish Ramesh Varma, Arjun Rajesh Jaiswal, Sushma Balkrishna Myadam, Anubhuti Sunil Dixit, Anuj Ramesh Varma, Sakshi Pritam Arora
Journal: Pan Afr Med J (2021)
Keywords: intramuscular, case report, injection, physiotherapy, sciatic nerve injury, traumatic
MeSH terms: Injections, Intramuscular / adverse effects, Sciatic Nerve / injuries, Sciatic Neuropathy / etiology, Case Reports, Buttocks, Child, Combined Modality Therapy, Follow-Up Studies, Humans, Male, Physical Therapy Modalities, Recovery of Function, Sciatic Neuropathy / therapy

The injury caused due to the intramuscular (IM) mode of drug administration are still affecting population in rural area more than urban area. The IM injection given in any quadrant except the upper outer quadrant of buttock most commonly damages the sciatic nerve because of its course and extent in the injection prone site. The iatrogenic sciatic nerve injury because of IM injection in dorsogluteal site is a matter of concern all over the world covering the undeveloped, developing and developed countries. The iatrogenic sciatic neuritis causes severe neurological or motor deficits leading to the medico-legal consequences. An 8-year-old male child, post dorsogluteal IM injection for mild fever and cold, presented left lower limb weakness and pain in left gluteal region. The patient underwent the medical and physiotherapeutic management for 14 months. The medical management included the initial dose of steroids and ox carbamazepine along with methylcobalamine and folic acid. The physiotherapeutic intervention concentrated on the functional independency of child. The patient attended complete physiological and functional recovery by the end of 14th month concluding that sometimes waiting for lesion to resolve is better than intervention. The iatrogenic sciatic neuritis is a complication that needs attention for prevention following intramuscular drug administration technique.
A Case of Histiocytic Sarcoma Arising from Mycosis Fungoides
Authors: Ethan A Burns, Cesar Gentille, Saro Kasparian, Sai Ravi Pingali
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Histiocytic sarcoma (HS) is an uncommon malignant neoplasm arising from mature histiocytes and most commonly characterized by the immunophenotypic expression of CD68, CD163, or lysozyme. Although rare, HS arising as a second primary malignancy following hematolymphoid neoplasms has been reported. To our knowledge, this is the first reported case of HS occurring as a second primary malignancy in a patient with mycosis fungoides (MF), with the retained immunophenotype markers CD30 and CD4.
Vim line technique thalamotomy for Parkinson tremor: Case series
Authors: Achmad Fahmi, Heri Subianto, Priya Nugraha, Muhammad Hamdan, Asra Al Fauzi, Anggraini Dwi Sensusiati, Budi Utomo, Riyanarto Sarno, Agus Turchan, Mohammad Hasan Macfoed, Takaomi Taira, Abdul Hafid Bajamal
Journal: Int J Surg Case Rep (2020)
Keywords: parkinson tremor, thalamotomy, vim line technique

Introduction:
The ventral intermediate (Vim) nucleus of the thalamus is difficult to identify even with 3 T magnetic resonance imaging. Stereotactic Vim thalamotomy is a usual procedure to control Parkinson tremor. Successful relieving of the tremor depends on the accuracy of defining the Vim location.
Presentation of cases:
Three patients with Parkinson tremor were subjected to stereotactic thalamotomy using the Vim line technique (VLT) so as to precisely determine the Vim location. All patients showed good results, with improved tremors, as indicated by the UPDRS score, without any complications.
Discussion:
The precise targeting of the Vim nucleus is crucial importance for the successful Vim thalamotomy. Various method has been developed to determine Vim location. Atlas based and Guiot's technique routinely used by neurosurgeon. VLT is a new technique that has been developed to determine the Vim location on MRI.
Conclusion:
VLT is useful for the determination of the Vim location. However, further research is warranted to prove its effectiveness.
Vitamin D Toxicity Managed with Peritoneal Dialysis
Authors: Krystel Feghali, Kostas Papamarkakis, Jackson Clark, Neha Malhotra, Lanu Stoddart, Ibitoro Osakwe
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

Vitamin D deficiency is a global health issue that afflicts more than one billion children and adults worldwide. Vitamin D supplementation has increased over the years, whether through medical prescriptions, over-the-counter, or online purchasing. This is driven by a more recognized association between vitamin D sufficiency status and lower risk of cancer. In addition, more recently, it is used as a potential prophylactic and treatment for COVID-19 infection. This can lead to toxicity from overingestion. While rare, it has been reported in the literature. In this case report, we present a 75-year-old man with severe hypercalcemia secondary to vitamin D toxicity managed with peritoneal dialysis. He presented with biochemical evidence of hypercalcemia, acute kidney injury, and pancreatitis. Workup for his hypercalcemia led to the diagnosis of vitamin D toxicity as shown by a level greater than 200 ng/dL (Ref: 20-50 ng/mL) was confirmed by liquid chromatography-mass spectroscopy. Cornerstone medical management of hypercalcemia was provided which included aggressive intravenous fluid hydration, intravenous diuretics, calcitonin, bisphosphonate, and corticosteroid therapy. At every interruption of therapy, calcium levels trended upward. A thorough literature review yielded the finding of a sole case report from 1966 presented at the Third International Congress of Nephrology, in which peritoneal dialysis was used in the management of vitamin D toxicity and hypercalcemia. This modality is established to cause vitamin D deficiency. In collaboration with the nephrology team, 10 sessions of peritoneal dialysis were undertaken with resolution of hypercalcemia and downtrend in 25-hydroxyvitamin D levels as measured by dilution.
Evacuation of a spontaneous massive spinal epidural hematoma by a minimally invasive surgical technique: a case report
Authors: Mouhssine Assamadi, Lamia Benantar, Hajar Hamadi, Bader Drai, Omar Ksiks, Tarik Belokda, Elmehdi Hamidi, Khalid Aniba
Journal: Pan Afr Med J (2022)
Keywords: spontaneous, anticoagulant therapy, case report, surgical evacuation, thoracolumbar
MeSH terms: Hematoma, Epidural, Spinal / diagnosis, Hematoma, Epidural, Spinal / surgery, Case Reports, Aged, 80 and over, Anticoagulants, Humans, Magnetic Resonance Imaging, Anticoagulants

Spontaneous spinal epidural hematomas are a rare consequence of long-term anticoagulant therapy. Their physiopathology remains poorly understood. This pathology carries a significant risk of morbidity. The purpose of this article is to report a case of a massive spontaneous spinal epidural hematoma extending on multiple levels, detailing the surgical technique used in its evacuation described for the first time in literature. This is a case report of an 80-year-old patient on anticoagulant therapy with a thoracolumbar spontaneous spinal epidural hematoma extending from T1 to L1 vertebrae. We share the clinical and radiological presentations, the surgical treatment, outcome and follow-up. The diagnosis of spontaneous spinal epidural hematoma has to be considered in patients with acute brutal onset radiculo-medullary compression. Medullary magnetic resonance imaging (MRI) remains the exam of choice. Medical and surgical treatment must be started immediately after the diagnosis is confirmed. The prognosis remains poor despite a proper management, with debilitating complications.
Meningeal Relapse of Nodular Lymphocyte Predominant Hodgkin Lymphoma Transformed to T-Cell/Histiocyte-Rich Large B-Cell Lymphoma: A Case Report
Authors: Paolo Salvioni Chiabotti, Bettina Bisig, Anne Cairoli, Steven D Hajdu, Pierre-Yves Lovey, Dina Milowich, Sonia Ziadi, Renaud Du Pasquier, Jean-Philippe Brouland, Laurence de Leval
Journal: Front Oncol (2020)
Keywords: central nervous system, t-cell/histiocyte-rich large b-cell lymphoma, autopsy, case report, cerebrospinal fluid, nodular lymphocyte predominant hodgkin lymphoma, transformation
MeSH terms: Case Reports

Central nervous system involvement in Hodgkin lymphoma is extremely rare, especially in nodular lymphocyte predominant Hodgkin lymphoma (NLPHL), which usually carries a favorable prognosis. Here we report a case of a young patient with NLPHL, who developed a progressive and fatal neurological deterioration requiring a very extensive work-up including two biopsies to obtain the diagnosis of T-cell/histiocyte-rich large B-cell lymphoma like transformation. This report, which includes post-mortem analysis, highlights the correlations between clinical, radiological, and biological data but also the difficulties encountered in reaching the correct diagnosis.
Liver injury secondary to chest tube placement: a case report of conservative management and review of literature
Authors: Badr Serji, Houda Mirali, Mohammed Chablou, Imane Kamaoui, Tijani El Harroudi
Journal: Clin Case Rep (2017)
Keywords: chest tube, complications, conservative management, liver injury
MeSH terms: Case Reports

Chest tube placement is a routine procedure performed in different medical departments. Liver injury is a very rare complication that can occur but can be life-threatening. Conservative management can be proposed in stable patient. Following guidelines and training physicians should decrease the incidence of such complications.