OpenMed/multicare-articles huggingface dataset:
Decompressive Hemicraniectomy and Favorable Outcome in a Pediatric Patient with Malignant Middle Cerebral Artery Infarction
Authors: Ricardo Barrientos, Carlos Sisniega, Samanta Catueno, Robin Hougen, Ashley Hanna, Utpal Bhalala
Journal: Case Rep Pediatr (2022)
MeSH terms: Case Reports

We report a rare case of middle cerebral artery (MCA) stroke in a teenage girl with initial improvement, followed by progression to malignant MCA infarction, requiring an urgent decompressive hemicraniectomy (DHC). Additionally, we report improvement in all areas, including language, comprehension, and motor skills at discharge and the 4-month follow-up. This rare presentation highlights the importance of monitoring the neurological status of a patient with an MCA infarct for progression to a life-threatening malignant MCA infarct. This case report also highlights the importance of consideration of DHC for a favorable outcome of the MMCA infarction.
Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series
Authors: Zhenchu Tang, Shan Gao, Miao He, Qihua Chen, Jia Fang, Yingying Luo, Weiqian Yan, Xiaoliu Shi, Hui Huang, Jianguang Tang
Journal: Front Neurol (2021)
Keywords: etfdh, late-onset madd, molecular analysis, mutation, riboflavin
MeSH terms: Case Reports

Background: Late-onset multiple acyl-CoA dehydrogenase deficiency (LO-MADD) describes a curable autosomal recessive genetic disease caused by ETFDH mutations that result in defects in ETF-ubiquinone oxidoreductase. Almost all patients are responsive to riboflavin. This study describes the clinical presentations and genetic characteristics of five LO-MADD patients. Methods: From 2018 to 2021, we collected clinical and genetic data on five patients diagnosed with LO-MADD at our hospital and retrospectively analyzed their clinical characteristics, laboratory examination, electromyography, muscle biopsy, genetic analysis, and outcome data. Results: This study included three males and two females with mean onset age of 37.8 years. Fluctuating exercise intolerance was the most common presentation. Serum creatine kinase (CK) levels were significantly elevated in all patients, and plasma acylcarnitine profiles revealed an increase in long-chain acylcarnitine species in three cases. The urinary organic acid study revealed a high level of hydroxyglutaric acid in all patients. Electrophysiology demonstrated myogenic impairment. Muscle biopsies revealed lipid storage myopathy. Molecular analysis identified nine mutations (three novels and six reported) in ETFDH. Exercise intolerance and muscle weakness were dramatically improved in all patients treated with riboflavin (100 mg) daily following diagnosis. Conclusions: LO-MADD is caused by ETFDH variants and responds well to riboflavin. Three novel ETFDH pathogenic variants were identified, expanding their spectrum in the Chinese population and facilitating future interpretation and analysis of ETFDH mutations.
Chronic Paronychia and Onychomadesis in Pemphigus Vegetans: An Unusual Presentation in a Rare Autoimmune Disease
Authors: Thanisorn Sukakul, Supenya Varothai
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Pemphigus vegetans is a rare variant of deep acantholytic pemphigus which usually presents with vesiculobullous rash and vegetative plaques on the folds. We report a case of pemphigus vegetans patient who presented with rashes on tips of fingers and toes resembling paronychia and onychomadesis that misled the diagnosis for months. The final diagnosis of Hallopeau-type pemphigus vegetans was made based on histopathology and direct immunofluorescence studies. Interestingly, not only the clinical presentation was atypical, but blood tests for anti-desmoglein 1 and 3 antibodies by ELISA technique were also negative. Thus, the rare unusual manifestation of pemphigus vegetans in this patient may associate with different autoantibodies to desmosomal proteins compared with those of classic pemphigus patients.
HIV-associated photodermatitis in African populations
Authors: Thuraya Isaacs, Rannakoe Lehloenya
Journal: Front Allergy (2023)
Keywords: hiv, actinic dermatitis, photodermatitis, photodermatoses, photosensitivity, pigmented skin
MeSH terms: Review

Photosensitive dermatoses are seen in 5% of HIV-infected persons. These include drug- and chemical-induced photoallergic and phototoxic reactions, chronic actinic dermatitis of HIV, photo lichenoid drug eruptions, and porphyria. Data on photodermatitis in HIV are limited to case reports and series. The pathogenesis is not completely understood and includes a th2 phenotype in HIV which results in impaired barrier function and resultant allergen sensitisation as well as immune dysregulation. The objective of this manuscript is to review the literature on the clinical phenotype, pathogenesis, role of photo and patch testing, outcomes, and treatment of photodermatitis in HIV in an African population.
Primary extra-nodal non-Hodgkin's lymphoma affecting mandibular bone: a case report
Authors: Julie Gante, Ségolène Georg, Jean-Michel Gabriel Robez, Antoine Dubuc, Frédéric Lauwers
Journal: Pan Afr Med J (2022)
Keywords: non-hodgkin’s lymphoma, case report, mandible, neoplasm
MeSH terms: Lymphoma, Large B-Cell, Diffuse / drug therapy, Lymphoma, Large B-Cell, Diffuse / therapy, Lymphoma, Non-Hodgkin / drug therapy, Lymphoma, Non-Hodgkin / therapy, Case Reports, Cyclophosphamide / therapeutic use, Humans, Rituximab / therapeutic use, Vincristine / therapeutic use, Rituximab, Vincristine, Cyclophosphamide

Non-Hodgkin's lymphoma (NHL) is the second most common non-epithelial malignant tumor in the cervicofacial region. Among aggressive NHL, the most common histological type is diffuse large B cell lymphoma (DLBCL). A 44-year-old man presented himself at the oral surgery consultation for the development of isolated dental mobilities associated with mandibular osteolytic lesion. The extraoral examination showed nothing. The neurological examination did not reveal dysesthesia or hypoesthesia. The endo-buccal examination showed an erythematous gum, mobility stage 3 of teeth #42 to 35 with positive pulp sensitivity tests on teeth #34 to 47 and no increased probing depth. The X-rays found homogeneous rounded monogeodic osteolytic lesion extending from teeth #42 to 35 with thinning of the cortical layer. The anatomopathological results of a partial biopsy of the parasymphyseal region found a diffuse large B cell lymphoma of GC phenotype. The patient was referred to the department of oncohematology and treatment was only medical with R-CHOP 21 type immunochemotherapy for 6 cycles. Primary intraosseous localization of non-Hodgkin's lymphoma is rare. The clinical and radiological signs of this malignant tumor pathology are not specific and make its positive diagnosis particularly difficult. In case of uncertainty, an appropriate radiological examination combined with a partial biopsy is essential.
Ekbom Syndrome associated with Lewy Body Dementia: A case report
Authors: Felippe José Pontes de Mendonça, Ivan Abdalla Teixeira, Valeska Marinho
Journal: Dement Neuropsychol (2020)
Keywords: ekbom syndrome, lewy body dementia, acarophobia, delusional disorders, dementias, parasitosis delusion, psychogenic parasitosis, self-harm
MeSH terms: Case Reports

Ekbom Syndrome, also known as parasitosis delusion or psychogenic parasitosis, is a rare condition in which patients present with a fixed belief of being infested by parasites, vermin or small insects, along with tactile hallucinations (such as pruritus or sensations of the parasites crawling over or under the skin). The syndrome may occur idiopathically or be associated with other medical conditions and drug use. This case report describes the occurrence of Ekbom syndrome in a patient diagnosed with Lewy Body Dementia (LBD), a neurodegenerative disease that commonly presents with sensory perception and thought disorders and other neuropsychiatric symptoms. Although visual hallucination is considered a core diagnostic criterion, other modalities of psychiatric symptoms can also occur posing a further challenge for correct diagnosis. Proper recognition allows early diagnosis and adequate treatment, preventing hazardous antipsychotic use in these patients.
A Persistent Primitive Hypoglossal Artery As the Sole Supply to the Brain Associated with a Basilar Bifurcation Aneurysm
Authors: Ming Wang, Jun Gu, Ping Lan, Shu Wan, Yongqing Zhou, Xiujue Zheng, Renya Zhan
Journal: Front Neurol (2017)
Keywords: aneurysm, basilar bifurcation, clip, intraoperative neurophysiologic monitoring, persistent primitive hypoglossal artery
MeSH terms: Case Reports

The persistent primitive hypoglossal artery (PPHA) is the second most common persistent carotid-vertebrobasilar anastomosis, with an incidence of 0.027-0.26%. PPHAs change the hemodynamics of the carotid and vertebrobasilar system and may be associated with intracranial vascular anomalies, but basilar bifurcation aneurysms were rarely reported. We describe the first case of a PPHA as the sole supply to the brain associated with a basilar bifurcation aneurysm and review the literature. We reported a 34-year-old woman who presented with subarachnoid hemorrhage due to a ruptured basilar bifurcation aneurysm. Digital subtraction arteriogram revealed a right PPHA as the sole supply to the brain. The aneurysm was successfully clipped under intraoperative neurophysiology.
Extensive Aplasia Cutis Congenita Encircling the Trunk Associated with Fetus Papyraceus
Authors: Alexander K C Leung, Kin Fon Leong, Joseph M Lam
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Aplasia cutis congenita associated with fetus papyraceus, though rare, is well known. On the other hand, aplasia cutis congenita associated with fetus papyraceus presenting with symmetrical circumferential scarring encircling the trunk has not been previously reported. Herein, we report a 2-month-old girl with symmetrical circumferential scarring encircling the trunk associated with fetus papyraceus.
NXP-2 Positive Dermatomyositis: A Unique Clinical Presentation
Authors: Zeeshan Butt, Leeza Patel, Manash K Das, Christopher A Mecoli, Alim Ramji
Journal: Case Rep Rheumatol (2017)
MeSH terms: Case Reports

Dermatomyositis (DM), a myopathy associated with inflammation and muscle weakness, has historically been difficult to diagnose. Recently, nuclear matrix protein (NXP-2) antibodies have been described as a myositis-specific antibody that may aid in the diagnostic evaluation. We present the case of a 21-year-old, previously healthy, African American male with DM. He presented to our outpatient clinic with periorbital swelling and a rash, for which he was started on prednisone by an ophthalmologist. Towards the end of the prednisone taper, he began to experience muscle weakness, a worsening rash, and dysphagia to solids with a resultant loss of 60 pounds within a month. He was transferred to a tertiary care hospital where he was further evaluated and ultimately diagnosed with dermatomyositis, supported by skin and muscle biopsies, and was found to be positive for NXP-2. He was given intravenous immunoglobulin (IVIG) and high-dose steroids with improvement.
Middle cerebral artery infarction, A rare complication of intracranial cryptococcoma in an immunocompetent patient: A case report and literature review
Authors: Ying-Ching Li, Chun-Chia Tseng, Shuo-Chi Chien, Sheng-Han Huang, Tin-Wei Chang, Chun-Ting Chen, Po-Hsun Tu, Zhuo-Hao Liu, Yin-Cheng Huang
Journal: Front Surg (2023)
Keywords: mca infarction, cryptococcomas, immunocompetent adult infection, intracranial infection, rare complication
MeSH terms: Case Reports

Background:
This report presents the first case of intracranial cryptococcoma arising from the right frontal lobe causing right middle cerebral artery infarction. Intracranial cryptococcomas usually occur in the cerebral parenchyma, basal ganglia, cerebellum, pons, thalamus, and choroid plexus; they may mimic intracranial tumors, but seldom cause infarction. ﻿Of the 15 cases of pathology-confirmed intracranial cryptococcomas in the literature, no case has been complicated by middle cerebral artery (MCA) infarction. Here, we discuss a case of intracranial cryptococcoma with an ipsilateral middle cerebral artery infarction.
Case description:
A 40-year-old man was referred to our emergency room due to progressive headaches and acute left hemiplegia. The patient was a construction worker with no history of avian contact, recent travel, or human immunodeficiency virus (HIV) infection. Brain computed tomography (CT) showed an intra-axial mass, and subsequent magnetic resonance imaging (MRI) delineated a large mass of 53 mm in the right middle frontal lobe and a small lesion of 18 mm in the right caudate head, with marginal enhancement and central necrosis. A neurosurgeon was consulted in view of the intracranial lesion, and the patient underwent en-bloc excision of the solid mass. The pathology report later identified a Cryptococcus infection rather than malignancy. The patient underwent 4 weeks of postoperative treatment with amphotericin B plus flucytosine; he then received subsequent oral antifungal treatment for 6 months, and had neurologic sequelae that manifested as left side hemiplegia.
Conclusion:
Diagnosis of fungal infections in the CNS remains challenging. This is especially true of Cryptococcus CNS infections that present as a space-occupying lesion in an immunocompetent patient. A Cryptococcus infection should be considered in the differential diagnoses in patients with brain mass lesions, as this infection can be misdiagnosed as a brain tumor.
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations
Authors: Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza
Journal: Front Pediatr (2019)
Keywords: baller-gerold syndrome, esco2, recql4, roberts syndrome, differential diagnosis, genetic counseling, patient management
MeSH terms: Case Reports

Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM*603780) and ESCO2 (MIM*609353) genes. Common features are severe growth retardation, limbs shortening and craniofacial abnormalities which may include craniosynostosis. We aimed at unveiling the genetic lesions underpinning the phenotype of two unrelated children with a presumptive BGS diagnosis: patient 1 is a Turkish girl with short stature, microcephaly, craniosynostosis, seizures, intellectual disability, midface hemangioma, bilateral radial and thumb aplasia, tibial hypoplasia, and pes equinovarus. Patient 2 is an Iranian girl born to consanguineous parents with craniosynostosis, micrognathism, bilateral radial aplasia, thumbs, and foot deformity in the context of developmental delay. Upon negative RECQL4 test, whole exome sequencing (WES) analysis performed on the two trios led to the identification of two different ESCO2 homozygous inactivating variants: a previously described c.1131+1G>A transition in patient 1 and an unreported deletion, c.417del, in patient 2, thus turning the diagnosis into Roberts syndrome. The occurrence of a Baller-Gerold phenotype in two unrelated patients that were ultimately diagnosed with RBS demonstrates the strength of WES in redefining the nosological landscape of rare congenital malformation syndromes, a premise to yield optimized patients management and family counseling.
Progranulin-associated primary progressive aphasia: a distinct phenotype?
Authors: Jonathan D Rohrer, Sebastian J Crutch, Elizabeth K Warrington, Jason D Warren
Journal: Neuropsychologia (2010)
MeSH terms: Aphasia, Primary Progressive / genetics, Intercellular Signaling Peptides and Proteins / genetics, Phenotype, Case Reports, Research Support, Non-U.S. Gov't, Aphasia, Primary Progressive / complications, Aphasia, Primary Progressive / pathology, Cognition Disorders / etiology, Comprehension, Humans, Linguistics / methods, Magnetic Resonance Imaging / methods, Male, Memory, Short-Term / physiology, Middle Aged, Neuropsychological Tests, Progranulins, Reading, Speech Disorders / etiology, Verbal Behavior / physiology, Vocabulary, GRN protein, human, Intercellular Signaling Peptides and Proteins, Progranulins

The neuropsychological features of the primary progressive aphasia (PPA) syndromes continue to be defined. Here we describe a detailed neuropsychological case study of a patient with a mutation in the progranulin (GRN) gene who presented with progressive word-finding difficulty. Key neuropsychological features in this case included gravely impoverished propositional speech with anomia and prolonged word-finding pauses, impaired speech repetition most marked for sentences, and severely impaired verbal (with preserved spatial) short-term memory. There was a dissociated profile of performance on semantic processing tasks: visual semantic processing was intact, while within the verbal domain, verb comprehension was impaired and processing of nouns was intact on tasks requiring direct semantic processing but impaired on tasks requiring associative or inferential processing. Brain MRI showed asymmetric left cerebral atrophy particularly affecting the temporo-parietal junction, supero-lateral temporal and inferior frontal lobes. This case most closely resembles the PPA syndrome known as the logopenic/phonological aphasia variant (LPA) however there were also deficits of grammar and speech repetition suggesting an overlap with the progressive non-fluent aphasia (agrammatic) variant (PNFA). Certain prominent features of this case (in particular, the profile of semantic impairment) have not been emphasised in previous descriptions of LPA or PNFA, suggesting that GRN may cause an overlapping PPA syndrome but with a distinctive cognitive profile. This neuropsychological evidence suggests that GRN-PPA may result from damage involving the temporo-parietal junction and its functional connections in both the dorsal and ventral language networks, with implications for our understanding of language network pathophysiology.
Immune reconstitution inflammatory syndrome mimicking progressive multifocal leucoencephalopathy in a multiple sclerosis patient treated with natalizumab: a case report and review of the literature
Authors: Maria-Eleptheria Evangelopoulos, Vasilios Koutoulidis, Kostas Kilidireas, Dimitrios-Stergios Evangelopoulos, Georgios Nakas, Elisabeth Andreadou, Lia-Angela Moulopoulos
Journal: J Clin Med Res (2015)
Keywords: immune reconstitution inflammatory syndrome, leucoencephalopathy, natalizumab, sclerosis
MeSH terms: Case Reports

Natalizumab (NTM) represents an effective drug for the treatment of relapsing-remitting multiple sclerosis (RRMS). Progressive multifocal leucoencephalopathy (PML) is a potential life-threatening complication of NTM treatment. A close follow-up and MRI monitoring of patients under NTM are required to avoid such devastating complications. The case of a 47-year-old woman with RRMS (EDSS 1.5) treated with NTM for 44 months is reported. The patient had a relapse with mild cerebellar symptomatology and visual complaints. MRI revealed a new area of abnormal signal intensity in the subcortical white matter of the right parietal lobe with mild peripheral enhancement. Visual fields showed scotomata mostly of the left eye. NTM was discontinued. JC virus (JCV) polymerase chain reaction (PCR) in cerebrospinal fluid was negative. The patient received IV corticosteroids for 5 days and then monthly for 2 months with subsequent clinical and MRI improvement. On month 4, she presented with a new relapse with severe ataxia, mild behavioral change, increase of cerebellar symptoms and internuclear opthalmoplegia (EDSS 3.5). MRI showed reappearance of the right parietal lobe lesion, with decreased size and less pronounced contrast enhancement. A new 2-cm lesion was noted in the left cerebellar hemisphere with a speckled pattern of contrast enhancement. JCV PCR was negative and the patient was treated with IV corticosteroids. On month 12, she demonstrated clinical and MRI improvement. Although initially PML was highly suspected in this patient, the clinical and MRI findings were supportive of the presence of immune reconstitution inflammatory syndrome (IRIS).
Ruptured Renal Artery Aneurysm in a Pregnant Woman: Case Report and Literature Review
Authors: Adriane Castro de Souza, Caio Henrique Yoshikatsu Ueda, Denise Hiromi Matsubara, João Raphael Zanlorensi Glir
Journal: Rev Bras Ginecol Obstet (2019)
MeSH terms: Aneurysm, Ruptured / diagnosis, Aneurysm, Ruptured / therapy, Pregnancy Complications, Cardiovascular / diagnosis, Pregnancy Complications, Cardiovascular / therapy, Renal Artery, Case Reports, Review, Adult, Female, Humans, Pregnancy

Renal artery aneurysms (RAAs) are rare and usually asymptomatic; ∼ 90% of them are unilateral. Once diagnosed during pregnancy, they may rupture, presenting a high maternal-fetal risk. The present study reports the case of a 32-year-old pregnant woman with a 30-week gestational age and a ruptured unilateral RAA.
Inflammatory Breast Cancer from Metastatic Ovarian Cancer
Authors: Vuthinun Achariyapota, Tuenjai Chuangsuwanich, Mongkol Benjapibal
Journal: Case Rep Obstet Gynecol (2016)

Metastases to the breast from tumors other than breast carcinomas are extremely rare and represent only 0.2-1.3% of all diagnosed malignant breast tumors. Furthermore, while the most common sites for advanced ovarian cancer metastases are the liver, lung, and pleura, metastasis to the breast from a primary ovarian cancer is uncommon and has only been reported in 0.03-0.6% of all breast cancers. Here we describe a case report of a 50-year-old female patient with a rare case of breast metastases from an advanced ovarian cancer, presenting as inflammatory breast cancer. Our observations emphasize the clinical importance of distinguishing between primary and metastatic breast cancer during diagnosis for the purpose of appropriate prognosis and treatment.
Fixation of a Proximal Humeral Fracture Using a Novel Intramedullary Cage Construct following a Failed Conservative Treatment
Authors: John Macy
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

A majority of proximal humeral fractures are preferably treated conservatively. However, surgical management may be beneficial in proximal humeral fractures with significant displacement or angulation. Unfortunately, the complication rates associated with current surgical procedures for fracture fixation, ORIF and IM devices, can be unacceptably high. A new technology, termed the PH Cage, addresses the technical limitations associated with current technologies available for fixation of proximal humeral fractures. It allows for intramedullary fixation of a PH fracture and provides direct load bearing support to the articular surface and buttresses the medial column during healing. We are presenting our first experience with the PH Cage for the fixation of a PH fracture, which had previously failed conservative management.