OpenMed/multicare-articles huggingface dataset:
Diagnosis and management of intracranial tuberculomas: about 2 cases and a review of the literature
Authors: Farid Zahrou, Yassine Elallouchi, Houssine Ghannane, Said Ait Benali, Khalid Aniba
Journal: Pan Afr Med J (2019)
Keywords: cerebral tuberculoma, magnetic resonance imaging, prognosis, treatment
MeSH terms: Antitubercular Agents / administration & dosage, Brain Neoplasms / diagnosis, Tuberculoma, Intracranial / diagnosis, Case Reports, Review, Child, Combined Modality Therapy, Diagnosis, Differential, Female, Headache / etiology, Humans, Magnetic Resonance Imaging, Medulloblastoma / diagnosis, Seizures / etiology, Tuberculoma, Intracranial / therapy, Antitubercular Agents

Central nervous system tuberculosis is a major cause of morbidity and mortality in developing countries. Intracranial tuberculoma is rare and is one of the most severe cases of tuberculosis. We present two cases. The first one is about a girl of 7 years, followed for 5 months for lymph nodes tuberculosis on anti-TB treatment that presents generalized tonic-clonic seizures associated with progressive intracranial hypertension syndrome. Brain MRI has objectified necrotic nodules in left hemisphere. The surgical approach of the lesions was direct with complete excision. The diagnosis of tuberculoma was confirmed by anatomopathological examination. The second case is about a 6-year-old girl with no particular medical history, which presents for three months progressive and treatment-resistant cervico-occipital headaches associated with walking difficulties. The MRI objectified left cerebellar tumor process interpreted preoperatively as medulloblastoma. The patient was operated on intraoperative, appearance was that of a nodular lesion. Anatomopathological examination confirmed the diagnosis. The intracranial tuberculoma is an unusual variety of the central nervous system tuberculosis and remains a topical issue in Morocco. The prognosis depends on prompt diagnosis, quality of surgical resection and anti-TB treatment. The diagnostic confirmation is histological and should therefore be evoked infront of any intracranial process mimicking a brain tumor.
Paraneoplastic Pemphigus Involving the Respiratory and Gastrointestinal Mucosae
Authors: Kentaro Odani, Akane Itoh, Soshi Yanagita, Yasuhito Kaneko, Mitsuhiro Tachibana, Takashi Hashimoto, Yutaka Tsutsumi
Journal: Case Rep Pathol (2020)
MeSH terms: Case Reports

Paraneoplastic pemphigus (PNP), an autoimmune mucocutaneous disorder involving the oral and bronchial mucosae, is a rare complication of hematologic malignancy. Serologically, serum autoantibodies against varied desmosome-related proteins are of notice. PNP is often lethal due to bronchiolitis obliterans and opportunistic infection. A 70-year-old Japanese male complained of dry cough, stomatitis, and sore throat. The lips and oral mucosa were severely eroded, and skin eruptions were seen on the chest and abdomen. The biopsy features were consistent with PNP, and the deposition of IgG and IgM was shown on the plasma membrane of the involved keratinocytes. Serological studies demonstrated autoantibodies to desmoglein-3, desmocollins-2 and -3, bullous pemphigoid antigen-1, envoplakin and periplakin. Systemic evaluation disclosed mantle cell lymphoma, stage 4B. After chemotherapy, partial remission was reached. PNP was treated with methylprednisolone and intravenous immunoglobulins, and the oral lesion only temporarily responded. He died of respiratory failure two months after onset. Autopsy revealed residual indolent lymphoma and systemic opportunistic infections. Aspergillus colonized the eroded bronchial/bronchiolar mucosa, associated with extensive vascular invasion. Coinfection of cytomegalovirus (CMV) and Pneumocystis jirovecii caused interstitial pneumonia. The oropharyngeal, respiratory, esophageal, and gastrointestinal mucosae were diffusely infected by CMV. Bronchiolitis obliterans was observed in the peripheral lung. PNP-related acantholysis-like lesions were microscopically identified in the bronchial and gastrointestinal mucosa. IgG deposition and cleaved caspase-3-immunoreactive apoptotic cell death were proven in the involved mucosal columnar cells. Pathogenesis of the mucosal involvement is discussed.
Improvement of Chronic Rhinosinusitis and Reduction of the Myeloperoxidase-Antineutrophil Cytoplasmic Antibody Titer in a Patient with Eosinophilic Granulomatosis with Polyangiitis by Additional Mepolizumab
Authors: Shin-Ya Tamechika, Shuntaro Isogai, Shinji Maeda, Taio Naniwa, Akio Niimi
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

A case of eosinophilic granulomatosis with polyangiitis (EGPA) in which chronic rhinosinusitis (CRS) was improved with a reduction in the myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA) titer after the addition of mepolizumab is reported. A 55-year-old woman with EGPA receiving prednisolone 5 mg/day developed CRS with increases in the eosinophil count and the MPO-ANCA titer. Although it improved with prednisolone 15 mg/day in addition to mizoribine 150 mg/day, because azathioprine could not be taken orally due to side effects, it relapsed after prednisolone was tapered to 5 mg/day. There was no exacerbation of other vasculitis symptoms such as mononeuropathy multiplex. The patient was treated with additional mepolizumab 300 mg every 4 weeks, which resulted in the improvement of CRS and marked reductions of the eosinophil count and MPO-ANCA titer, and the reduction of prednisolone to 2 mg/day. Furthermore, even after tapering mepolizumab to 200 mg every 4 weeks, her condition remained stable without relapse of EGPA and without increases in the eosinophil count and MPO-ANCA titer. The clinical course of mepolizumab treatment in this patient suggests that the IL5-dependent inflammatory cascade is one of the factors contributing to the increase in MPO-ANCA in EGPA.
Limb Amputation after Multiple Treatments of Tenosynovial Giant Cell Tumour: Series of 4 Dutch Cases
Authors: Monique J L Mastboom, Floortje G M Verspoor, Hans Gelderblom, Michiel A J van de Sande
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

In Tenosynovial Giant Cell Tumours (TGCT), previously named Pigmented Villonodular Synovitis (PVNS), a distinction is made between a single nodule (localized-type) and multiple nodules (diffuse-type). Diffuse-type is considered locally aggressive. Onset and extermination of this orphan disease remain unclear. Surgical resection is the most commonly performed treatment. Unfortunately, recurrences often occur (up to 92%), necessitating reoperations and adjuvant treatments. Once all treatments fail or if severe complications occur, limb amputation may become unavoidable. We describe four cases of above-knee amputation after TGCT diagnosis.
Cervical epidural hematoma post-trauma: a case report
Authors: Abderrahmane Housni, Nourou Dine Adeniran Bankole, Abdessamad El Ouahabi
Journal: Pan Afr Med J (2022)
Keywords: spinal epidural hematoma, case report, cervical spine, cord compression, trauma
MeSH terms: Accidents, Traffic, Neck, Case Reports, Hematoma / diagnostic imaging, Hematoma / etiology, Hospitalization, Humans, Intensive Care Units, Middle Aged

Post-traumatic spinal epidural cervical hematoma is defined as a collection of blood at the level of the epidural space following a trauma. It remains a rare presentation. We report here the case of a cervical epidural hematoma extending from C3 to C5, in a 55-year-old patient victim of a public traffic accident admitted one hour after trauma. Computed Tomography (CT) scan found a compressive epidural hematoma extending C3 to C5; the patient underwent a posterior surgical approach, which allowed to evacuate the hematoma. This rare clinical entity is an emergency diagnosis and management, which needs collaboration between, Intensive Care Unit (ICU) specialists, neurosurgeons, neuroradiologists, and physiotherapists for good outcomes and follow-up.
Direct Anterior Tracks: Early and Functional Management of Class III Malocclusions-Case Report and Literature Review
Authors: Echeverry Juan Carlos, Barbosa-Liz Diana
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

The prevalence of class III malocclusion ranged from 0 to 26% in different populations. Many types of treatments have been described in dental literature. The results of early treatment have been positive. The purpose of this report is to describe the case of a four-year-old patient with class III malocclusion who received an innovative treatment using direct anterior tracks. This therapy efficiently obtained immediate improvement of profile and occlusal relationships.
Abnormal 18F-FDG Uptake Detected with Positron Emission Tomography in a Patient with Breast Cancer: A Case of Sarcoidosis and Review of the Literature
Authors: Selmin Ataergin, Nuri Arslan, Ahmet Ozet, Mehmet Ali Ozguven
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

18F-FDG PET is a useful and sensitive imaging method for a variety of malignancies, however, the specificity is low in active infections and inflammatory diseases. We describe a female patient with stage IIIA breast cancer in first complete remission with combination chemotherapy who developed nodular formations in the lung and axilla 12 years later. Imaging studies as well as FDG PET showed nodular lesions and increased metabolic activity which was interpreted as the progression of the primary disease. She was first given combination chemotherapy and hormonal therapy but was proven thereafter to have sarcoidosis by pathologic examination and was successfully treated with corticosteroid treatment.
Implied functional crossed cerebello-cerebral diaschisis and interhemispheric compensation during hand grasping more than 20 years after unilateral cerebellar injury in early childhood
Authors: Takayuki Nakahachi, Ryouhei Ishii, Leonides Canuet, Masao Iwase
Journal: Cerebellum Ataxias (2015)
Keywords: brain injuries, cerebellar ataxia, cerebellum, magnetoencephalography, near-infrared spectroscopy, sensorimotor cortex
MeSH terms: Case Reports

Background:
Crossed cerebello-cerebral diaschisis (CCCD) conventionally refers to decreased resting cerebral activity caused by injury to the contralateral cerebellum. We investigated whether functional activation of a contralesional cerebral cortical region controlling a specific task is reduced during task performance in a patient with a unilateral cerebellar lesion. We also examined functional compensation by the corresponding ipsilesional cerebral cortex. It was hypothesized that dysfunction of the primary sensorimotor cortex (SM1) contralateral to the cerebellar lesion would be detected together with a compensatory increase in neural activity of the ipsilesional SM1. To test these possibilities, we conducted non-invasive functional neuroimaging techniques for bilateral SM1 during hand grasping, a task known to activate predominantly the SM1 contralateral to the grasping hand. Activity in SM1 during hand grasping was measured electrophysiologically by magnetoencephalography and hemodynamically by near-infrared spectroscopy in an adult with mild right hemiataxia associated with a large injury of the right cerebellum due to resection of a tumor in early childhood.
Results:
During left hand grasping, increased neural activity was detected predominantly in the right SM1, the typical developmental pattern. In contrast, neural activity increased in the bilateral SM1 with slight right-side dominance during right (ataxic) hand grasping.
Conclusions:
This study reported a case that implied functional CCCD and compensatory neural activity in the SM1 during performance of a simple hand motor task in an adult with unilateral cerebellar injury and mild hemiataxia 24 years prior to the study without rehabilitative interventions. This suggests that unilateral cerebellar injuries in early childhood may result in persistent functional abnormalities in the cerebrum into adulthood. Therapeutic treatments that target functional CCCD and interhemispheric compensation might be effective for treating ataxia due to unilateral cerebellar damage.
A Case of Cognitive Decline Resulting from Aging, Temporal Lobe Epilepsy, and Environmental Factors
Authors: Nikhila Veluri
Journal: Case Rep Psychiatry (2019)
MeSH terms: Case Reports

Cognitive functioning is imperative in our daily lives. It allows us to understand, process, and react appropriately to different situations. Aging has been linked to cognitive decline. The degree and rate of cognitive decline are crucial as they differentiate normal aging from dementia or memory loss secondary to medical conditions. A 63-year-old Caucasian woman with a 50-year history of temporal lobe epilepsy experienced memory difficulties in recent years. She was admitted voluntarily to the neuropsychiatry ward for a 3-day ambulatory electroencephalogram (EEG), which reported mild bitemporal structural or functional abnormality. The patient reported subjective seizure experiences that were not reflective of seizure activity on the EEG. Possible causes included panic attacks or other anxiety experiences. Routine laboratory test and magnetic resonance imaging results were unremarkable. During her hospital stay she showed improvement in cognitive functioning. However, anxiety continued to negatively impact her memory. We hypothesized that the memory impairments could have resulted from age, psychological factors, the patient's own expectations, pressure from the environment and history of TLE. We diagnosed the patient with mild cognitive impairment and adjustment disorder with anxiety. She was discharged with seizure and anxiety medication. This report highlights the importance of both age-related and disease-related variables when diagnosing patients with cognitive decline.
SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report
Authors: Muhammad Younus, Farooq Ahmad, Erum Malik, Muhammad Bilal, Mehran Kausar, Safdar Abbas, Shabnam Shaheen, Mohib Ullah Kakar, Majid Alfadhel, Muhammad Umair
Journal: Front Genet (2019)
Keywords: lgmd, lgmd2f, sgcd, homozygous variant, limb-girdle muscular dystrophies, nonsense mutation, targeted ngs

Background: Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inherited muscle diseases, mainly affecting the muscles of shoulder areas and the hip, segregating in both autosomal recessive and dominant manner. To-date, thirty-one loci have been identified for LGMD including seven autosomal dominant (LGMD type 1) and twenty four autosomal recessive (LGMD type 2) inherited loci. Methodology/Laboratory Examination: The present report describes a consanguineous family segregating LGMD2F in an autosomal recessive pattern. The affected individual is an 11-year-old boy having two brothers and a sister. Direct targeted next generation sequencing was performed for the single affected individual (VI-1) followed by Sanger sequencing. Results: Targeted next generation sequencing revealed a novel homozygous nonsense mutation (c.289C>T; p.Arg97∗) in the exon 3 of the delta-sarcoglycan (SGCD) gene, that introduces a premature stop codon (TCA), resulting in a nonsense mediated decay or a truncated protein product. Discussion and Conclusion: This is the first report of LGMD2F caused by an SGCD variant in a Pakistani population. The mutation identified in the present investigation extends the body of evidence implicating the gene SGCD in causing LGMD2F and might help in genetic counseling, which is more important to deliver the risk of carrier or affected in the future pregnancies.
The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family
Authors: Parvaneh Karimzadeh, Narjes Jafari, Habibe Nejad Biglari, Sayena Jabbehdari, Mehdi Alizadeh, Ghazal Alizadeh, Hamid Nejad Biglari, Sara Sanii
Journal: Iran J Child Neurol (2016)
Keywords: adrenoleukodystrophy, early detection, early intervention, neurometabolic disorder

Objective:
Adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath breakdown in the brain. In this study, we present 4 yr experience on this disorder.
Materials & methods:
The patients diagnosed as adrenoleukodystrophy in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from 2010 to 2014 were enrolled into the study. The disorder was confirmed by neuroimaging and clinical findings along with genetic and neurometabolic assessment at Reference Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of populous family with adrenoleukodystrophy.
Results:
All of the patients were one populous family with high rate of consanguineous marriages. This disorder was confirmed by genetic assessment, VLCFA and brain MRI. c.253_254insC, p.R85Pfs112* was found in heterozygote state and the VLCFA assessment showed the typical pattern for adrenoleukodystrophy/ adrenomyeloneuropathy. This diagnosis was in agreement with the family history and the clinical history of the patient. Since there have been a number of cases in patient's family in the past, so intensive follow-up on the family especially detection the female members of the family of childbearing age was recommended. The amount of C-26, C24/C22 and C26/C22 was elevated. All patients with the same genotype had wide ranges of clinical presentation.
Conclusion:
Early diagnose of this disease might help us for early intervention and prenatal diagnosis for the disease in next siblings.
Blowhole Colostomy for Clostridium difficile-Associated Toxic Megacolon
Authors: Jeroen Kerstens, Ian Diebels, Charles de Gheldere, Patrick Vanclooster
Journal: Case Rep Surg (2016)
MeSH terms: Case Reports

We present the case of a 58-year-old man who underwent urgent blowhole colostomy for toxic megacolon (TM) secondary to Clostridium difficile infection (CDI). This infection occurred under antibiotic coverage with amoxicillin-clavulanic acid, four days after laparoscopic sigmoidectomy in our hospital. Although prospective clinical research regarding the surgical management of TM is lacking, decompressive procedures like blowhole colostomy are reported to carry a high risk of postoperative morbidity and mortality and are widely regarded as obsolete. Subtotal or total colectomy with end ileostomy is currently considered the procedure of choice. After presenting our case, we discuss the literature available on the subject to argue that the scarce evidence on the optimal surgical treatment for TM is primarily based on TM associated with inflammatory bowel diseases (IBD) and that there might be a rationale for considering minimally invasive procedures like blowhole colostomy for CDI-associated TM.
Infantile Myofibroma Presenting as a Large Ulcerative Nodule in a Newborn
Authors: Farooq Shahzad, Ava G Chappell, Chad A Purnell, Monica Aldulescu, Sarah Chamlin
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

The differential diagnosis of a congenital cutaneous vascular-appearing mass in a newborn is broad and includes both benign and malignant tumors. We report the case of a newborn who presented with an erythematous exophytic skin nodule on the right upper leg. Excision was performed due to ulceration, concern for bleeding, and for diagnosis. Pathology revealed the mass to be an infantile myofibroma. This case highlights the importance of considering a broad differential diagnosis in a newborn with a cutaneous mass. While history, physical exam, and imaging can help diagnose some cases, a biopsy or excision is often needed to distinguish benign lesions from more concerning lesions.
Case Report: Hypothalamic Amenorrhea Following COVID-19 Infection and Review of Literatures
Authors: Paolo Facondo, Virginia Maltese, Andrea Delbarba, Ilenia Pirola, Mario Rotondi, Alberto Ferlin, Carlo Cappelli
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: covid-19, central amenorrhea, female hypogonadotropic hypogonadism, hypothalamic amenorrhea, hypothalamic–pituitary dysfunction
MeSH terms: COVID-19 / complications, Hypogonadism / complications, Pituitary Diseases / complications, Case Reports, Review, Adult, Amenorrhea / etiology, Female, Humans, SARS-CoV-2

SARS-CoV-2 infection, responsible for the coronavirus disease 2019 (COVID-19), can impair any organ system including endocrine glands. However, hypothalamic-pituitary dysfunctions following SARS-CoV-2 infection remain largely unexplored. We described a case of hypothalamic amenorrhea following SARS-CoV-2 infection in a 36-year-old healthy woman. The diagnostic workup excluded all the causes of secondary amenorrhea, in agreement to the current guidelines, whereas the gonadotropin increase in response to GnRH analogue tests was suggestive for hypothalamic impairment. Therefore, since our patient did not present any organic cause of hypothalamic-pituitary disorder, we hypothesized that her hypothalamic deficiency may have been a consequence of SARS-CoV-2 infection. This assumption, besides on the temporal consecutio, is strengthened by the fact that SARS-CoV-2 infection can impair the hypothalamic circuits, altering the endocrine axes, given that angiotensin-converting enzyme 2 receptors have also been observed in the hypothalamus. We reviewed the literature regarding hypothalamic-pituitary dysfunction in patients with SARS-CoV-2 infection. No study has previously described female hypogonadotropic hypogonadism with secondary amenorrhea following COVID-19. We suggest clinicians focusing greater attention on this possible endocrine disorder.
Isolated Hypoglossal Nerve Palsy due to Infected Impacted Tooth
Authors: Farhan Durrani, Royana Singh
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Case of isolated hypoglossal nerve palsy is an extremely rare condition. There are several causes that can be attributed to it. We present a case where a patient presented herself with swelling on the right side of her cheek extending to the floor of the mouth, with unilateral right hypoglossal nerve palsy. Removal of the impacted tooth resulted in the improvement of function of the hypoglossal nerve. The transient isolated hypoglossal nerve palsy could have been due to the infected impacted tooth. Therefore, the dentist or doctors coming across with isolated hypoglossal nerve palsy should consider the infected impacted tooth as the differential diagnosis.