OpenMed/multicare-articles huggingface dataset:
Menkes disease presenting with epilepsia partialis continua
Authors: Tamer Rizk, Adel Mahmoud, Tahani Jamali, Salah Al-Mubarak
Journal: Case Rep Neurol Med (2014)

Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua. Case Presentation. Seventeen-months-old Saudi infant was presented with repetitive seizures and was diagnosed to have epilepsia partialis continua. Discussion. Menkes disease (OMIM: 309400) is considered a rare, X-linked recessive neurodegenerative disorder resulting from a mutation in the gene coding for the copper transporting ATPase (ATP7A). Affected individuals usually present with kinky hair, skeletal changes, prolonged jaundice, hypothermia, developmental regression, decreased tone, spasticity, weakness, and therapy resistant seizures. Conclusion. Raising awareness of abnormal presentation of this rare disease may help in the control of seizures through subcutaneous copper supplementation.
A case of true hermaphroditism presenting as a testicular tumour
Authors: Michelle Ceci, Edward Calleja, Edith Said, Noel Gatt
Journal: Case Rep Urol (2015)

True hermaphroditism represents only 5% cases of all of disorders of sexual differentiation (DSD) and usually present in early childhood with ambiguous genitalia. Occasionally, cases might present later on in adolescence with problems of sexual maturation. Our case report presents a true hermaphrodite with normal male phenotype that presented as a left testicular mass, two years after being diagnosed with Sertoli cell only syndrome in the contralateral testis. Histological examination of the left testis showed ovarian, fallopian tube, myometrial, endometrial, and epididymal tissue. This combination of findings is found in approximately one-third of true hermaphrodites, but it is very rare to present clinically as an inguinoscrotal mass.
Case report: Bullous pemphigoid arising in a patient with scleroderma and multiple sclerosis
Authors: Francesco Moro, Feliciana Mariotti, Anna Pira, Naomi De Luca, Biagio Didona, Gianluca Pagnanelli, Giovanni Di Zenzo
Journal: Front Med (Lausanne) (2022)
Keywords: bp180, bp230, bullous pemphigoid, multiple sclerosis, scleroderma
MeSH terms: Case Reports

Background:
Bullous pemphigoid (BP) is the most common autoimmune-blistering disease, clinically characterized by erythematous urticarial plaques, blisters, and intense pruritus, induced by autoantibodies against two proteins of the dermo-epidermal junction, BP180 and BP230. A large number of autoimmune diseases are reported in the literature as BP comorbidities, such as multiple sclerosis, but only a few cases are in association with scleroderma and none in association with both.
Case presentation:
We present the case of a 68-year-old woman affected by multiple sclerosis and scleroderma who developed severe bullous pemphigoid with a bullous pemphigoid disease area index of 60 and high titers of anti-BP180 and anti-BP230 autoantibodies by enzyme-linked immunosorbent assays. After 2 months of therapy with both intravenous and oral corticosteroids, the active lesions of bullous pemphigoid were remitted with no relapse.
Conclusion:
Autoimmune diseases affecting the skin or organs where BP180 and BP230 are present could trigger an immune response to these antigens through an epitope-spreading phenomenon and, over the years, induce bullous pemphigoid onset.
Successful Treatment of Lower Limb Complex Regional Pain Syndrome following Three Weeks of Hyperbaric Oxygen Therapy
Authors: Rita Katznelson, Shira C Segal, Hance Clarke
Journal: Pain Res Manag (2016)
MeSH terms: Complex Regional Pain Syndromes / pathology, Complex Regional Pain Syndromes / therapy, Hyperbaric Oxygenation / methods, Lower Extremity / physiopathology, Case Reports, Adult, Complex Regional Pain Syndromes / complications, Complex Regional Pain Syndromes / psychology, Follow-Up Studies, Humans, Male, Mood Disorders / diagnosis, Mood Disorders / etiology, Pain Measurement, Psychiatric Status Rating Scales

Hyperbaric oxygen therapy (HBOT) is a treatment that delivers 100% oxygen at increased atmospheric pressures. The efficacy of HBOT for treating pain has been described in various animal pain models and may have clinical efficacy in the treatment of human chronic pain syndromes. We present our experience with posttraumatic Complex Regional Pain Syndrome (CRPS) type 2 in a patient who underwent 15 sessions of HBOT. A 41-year-old male with one-year history of CRPS of left foot followed by left ankle fracture demonstrated less pain, decreased swelling, less allodynia, and improvement in skin color and range of motion of the lower limb after 3 weeks of HBOT. Patient was back to work for the first time in over a year. HBOT may be considered as a valuable therapeutic tool in the treatment of long-standing CRPS.
Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI
Authors: A Hakim, C Rozeik, M Fedorcak
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

Neurodegeneration with brain iron accumulation (NBIA) is a subtype of inherited metabolic disorders. It includes pantothenate kinase-associated neurodegeneration (PKAN), which is a rare autosomal recessive disorder caused by the mutation of pantothenate kinase 2-gene (PANK2). It affects the deep grey matter nuclei causing progressive extrapyramidal motor impairment.1 We present a case of genetically proven PKAN in a child with mosaic trisomy 21 in which T2- hyperintensity of the basal ganglia was seen followed by the classic eye-of-the-tiger sign in a follow-up MRI.
A case report and literature review of immune checkpoint inhibitor-associated pneumonia caused by penpulimab
Authors: Rongmao Gao, Fuxun Yang, Chen Yang, Zhao Zhang, Mingzong Liu, Chunlin Xiang, Huan Hu, Xiaoxiu Luo, Jiajia Li, Rongan Liu
Journal: Front Immunol (2023)
Keywords: icu, checkpoint inhibitor pneumonitis, immune checkpoint inhibitor, metagenomic next-generation sequencing, severe infection
MeSH terms: Carcinoma, Non-Small-Cell Lung, Lung Neoplasms, Pneumonia / diagnosis, Pneumonia / drug therapy, Pneumonia / etiology, Review, Case Reports, Humans, Immune Checkpoint Inhibitors / adverse effects, penpulimab, Immune Checkpoint Inhibitors

Objective:
From the perspective of intensive care physicians, this paper reviews the diagnosis and treatment of CIP patients, analyzes and refines relevant literature on CIP. To summarize the characteristics of diagnosis and treatment of severe CIP provides the basis and reference for early identification, diagnosis and treatment.
Methods:
A case of severe CIP caused by piamprilizumab and ICI was reviewed and the literature was reviewed.
Results:
This was a patient with lung squamous cell carcinoma with lymphoma who had been treated with multiple chemoradiotherapy and immunotherapy with piamprizumab. The patient was admitted to the ICU with respiratory failure. The intensive care physician performs anti-infective, fluid management, hormonal anti-inflammatory, respiratory and nutritional support treatment, and relies on mNGS to exclude severe infection and CIP treatment, thus successfully saving the patient's life and improving discharge.
Conclusions:
The incidence of CIP is very low, and its diagnosis should be combined with clinical manifestations and previous drug use. mNGS can provide certain value in the exclusion of severe infections, so as to provide basis and reference for the early identification, diagnosis and treatment of severe CIP.
A Rare Case of Cardiac Recovery after Acute Myocarditis from West Nile Virus Infection: A Review of the Current Literature
Authors: KaChon Lei, Wilbur Ji, Bhavana Bhaya, Chowdhury Ahsan
Journal: Case Rep Cardiol (2022)
MeSH terms: Case Reports

West Nile Virus (WNV) myocarditis is nearly fatal, according to the current medical literature. We report a previously healthy 37-year-old Caucasian male who presented to our facility with two days of progressive lower extremity weakness, fever, edema, and shortness of breath found to have left ventricular global hypokinesis with an ejection fraction of less than 25%, consistent with acute viral myocarditis. He also has concomitant WNV meningoencephalitis due to his altered mentation. He was found to have a positive serum WNV IgM suggestive of a diagnosis of WNV myocarditis. He was intubated and was placed on vasoactive pressors for supportive care due to evidence of mixed cardiogenic and septic shock. After two weeks of hemodynamic support, we discovered a near-complete cardiac recovery, as shown on a repeat transthoracic echocardiography (TTE) and a normalized mean arterial blood pressure. This is a unique case report because near fatality is often associated with WNV myocarditis secondary to tachyarrhythmia, and there are currently no documented cases that are suggestive of cardiac recovery from the current literature.
The Clinical Features of FLAIR-Hyperintense Lesions in Anti-MOG Antibody Associated Cerebral Cortical Encephalitis with Seizures: Case Reports and Literature Review
Authors: Yun-Feng Wang, Xue-Wu Liu, Jian-Ming Lin, Ji-Ye Liang, Xiu-He Zhao, Sheng-Jun Wang
Journal: Front Immunol (2021)
Keywords: cortical, encephalitis, fluid attenuated inversion recovery, myelin oligodendrocyte glycoprotein, seizure
MeSH terms: Autoantibodies / metabolism, Cerebral Cortex / pathology, Cerebrospinal Fluid / immunology, Encephalitis / diagnosis, Immune Complex Diseases / diagnosis, Case Reports, Research Support, Non-U.S. Gov't, Adrenal Cortex Hormones / therapeutic use, Adult, Anticonvulsants / therapeutic use, Cerebral Cortex / immunology, Encephalitis / drug therapy, Female, Headache, Humans, Immune Complex Diseases / drug therapy, Leukocytosis, Magnetic Resonance Imaging, Male, Middle Aged, Myelin-Oligodendrocyte Glycoprotein, Seizures, Young Adult, Adrenal Cortex Hormones, Anticonvulsants, Autoantibodies, Myelin-Oligodendrocyte Glycoprotein

Background:
The presence of fluid attenuated inversion recovery (FLAIR)-hyperintense lesions in anti-myelin oligodendrocyte glycoprotein (MOG) antibody-associated cerebral cortical encephalitis with seizures (FLAMCES) was recently reported. However, the clinical characteristics and outcome of this rare clinico-radiographic syndrome remain unclear.
Methods:
The present study reported two new cases. In addition, cases in the literature were systematically reviewed to investigate the clinical symptoms, magnetic resonance imaging (MRI) abnormalities, treatments and prognosis for this rare clinico-radiographic syndrome.
Results:
A total of 21 cases were identified during a literature review, with a mean patient age at onset of 26.8 years. The primary clinicopathological characteristics included seizures (100%), headache (71.4%), fever (52.3%) and other cortical symptoms associated with the encephalitis location (61.9%). The common seizure types were focal to bilateral tonic-clonic seizures (28.6%) and unknown-onset tonic-clonic seizures (38.1%). The cortical abnormalities on MRI FLAIR imaging were commonly located in the frontal (58.8%), parietal (70.6%) and temporal (64.7%) lobes. In addition, pleocytosis in the cerebrospinal fluid was reported in the majority of the patients (95.2%). All patients received a treatment regimen of corticosteroids and 9 patients received anti-epileptic drugs. Clinical improvement was achieved in all patients; however, one-third of the patients reported relapse following recovery from cortical encephalitis.
Conclusions:
FLAMCES is a rare phenotype of MOG-associated disease. Thus, the wider recognition of this rare syndrome may enable timely diagnosis and the development of suitable treatment regimens.
Clinical management of acute interstitial pneumonia: a case report
Authors: Yang Xia, Zhenyu Liang, Zhenzhen Fu, Laiyu Liu, Omkar Paudel, Shaoxi Cai
Journal: Case Rep Pulmonol (2012)

We describe a 51-year-old woman who was admitted to hospital because of cough and expectoration accompanied with general fatigue and progressive dyspnea. Chest HRCT scan showed areas of ground glass attenuation, consolidation, and traction bronchiectasis in bilateral bases of lungs. BAL fluid test and transbronchial lung biopsy failed to offer insightful evidence for diagnosis. She was clinically diagnosed with acute interstitial pneumonia (AIP). Treatment with mechanical ventilation and intravenous application of methylprednisolone (80 mg/day) showed poor clinical response and thus was followed by steroid pulse therapy (500 mg/day, 3 days). However, she died of respiratory dysfunction eventually. Autopsy showed diffuse alveolar damage associated with hyaline membrane formation, pulmonary interstitial, immature collagen edema, and focal type II pneumocyte hyperplasia.
Brucella bacteremia in a recipient of an allogeneic hematopoietic stem cell transplant: a case report
Authors: Khalid A Al-Anazi, Saleh Abu Jafar, Asma M Al-Jasser, Hamad Al-Omar, Fahad I Al-Mohareb
Journal: Cases J (2009)

Background:
Brucellosis is an important cause of morbidity and mortality in patients living in areas that are endemic for the infection.
Case presentation:
A 20 years old Saudi male was diagnosed to have severe aplastic anemia at King Faisal Specialist Hospital and Research Centre in Riyadh in April 2006. One hundred and twelve days following his successful allogeneic hematopoietic stem cell transplant, he presented with pyrexia in addition to neutropenia and mild thrombocytopenia. Brucella serology was strongly positive and blood cultures grew Brucella melitensis. The bacteremic episode of brucellosis was successfully treated with streptomycin, doxycyclin and ciprofloxacin at the outpatient clinic. To our knowledge, this is the first case of a naturally occurring Brucella infection complicated by Brucella bacteremia in a recipient of hematopoietic stem cell transplant.
Conclusion:
Brucellosis may cause systemic infections, complicated bacteremias and serious morbidity in immunocompromised patients living in countries that are endemic for the infection. It should be considered as a possible cause of fever and pancytopenia in hematopoietic stem cell transplant recipients living in these geographical locations. Nevertheless, the infection is curable provided the diagnosis is made early and an appropriate antimicrobial therapy is promptly initiated.
Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease
Authors: Zhechi He, Ke Wu, Wenqing Xie, Jianghua Chen
Journal: Front Pediatr (2022)
Keywords: actn4, de novo, end-stage renal disease, focal segmental glomerulosclerosis, proteinuria
MeSH terms: Case Reports

Background:
Focal segmental glomerulosclerosis (FSGS) is a histopathological diagnosis of the sclerosis of glomeruli and the damage to renal podocytes. FSGS affects the filtration function of the kidneys and results in nephrotic syndrome (NS) in children and adults. FSGS is a clinically and genetically heterogeneous disorder. FSGS-1 [OMIM #603278] is one of the progressive hereditary renal diseases. It is caused by heterozygous variants of the actinin alpha 4 (ACTN4) [OMIM*604638] gene on chromosome 19q13.2 in a dominant inheritance (AD) manner. With the recent development of whole-exome sequencing (WES), 22 (including our case) pathogenic or likely pathogenic variants have been identified in ACTN4 gene.
Case presentation:
We reported a 17-year-old Chinese girl who was hospitalized with foamy urine, nausea and vomiting. Laboratory tests revealed increased levels of serum creatinine and urea nitrogen. Ultrasonography demonstrated bilaterally reduced size of kidneys. The primary diagnoses were NS and chronic kidney disease stage 5 (CKD5). The hemodialysis was initiated in 48 h after admission. After 4 months of treatment, the patient received an allogeneic kidney transplantation from her father. A novel heterozygous missense variant c.494C > T (p.A165V) in the ACTN4 gene was found by WES in the patient. This variant was confirmed by Sanger sequencing. The computational simulation of the stability of mutant protein (p.A165V) was decreased. Interatomic interactions of the p.A165V site were increased, and it might be associated with the increased ubiquitylation in the vicinity of the mutant site.
Conclusion:
As per the guidelines of the American College of Medical Genetics and Genomics for interpreting sequence variants, the novel heterozygous missense variant was pathogenic (PS2 + PM1 + PM2 + PP3 + PP4). It should be noted that the early onset of severe proteinuria with a poor prognosis is an important and universal symptom for most genetic FSGS. If necessary, genetic screening is recommended.
Case Report: Cetuximab use in advanced cutaneous squamous cell carcinoma resistant to chemotherapy
Authors: Alvise Sernicola, Salvatore Lampitelli, Federica Marraffa, Patrizia Maddalena, Sara Grassi, Antonio Giovanni Richetta, Stefano Calvieri
Journal: F1000Res (2019)
Keywords: egfr, cetuximab, cutaneous squamous cell carcinoma, non-melanoma skin cancer
MeSH terms: Antineoplastic Agents, Immunological / therapeutic use, Carcinoma, Squamous Cell / drug therapy, Cetuximab / therapeutic use, Skin Neoplasms / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Humans, Male, Middle Aged, Antineoplastic Agents, Immunological, Cetuximab

We present the case of a 60-year-old man with unresectable cutaneous squamous cell carcinoma (cSCC) of the sternal area, which was not amenable to radiation therapy. The treatment history of this patient is remarkable as the disease had progressed through all lines of conventional therapy established in the literature. We decided to initiate treatment with epidermal growth factor receptor (EGFR) inhibitor cetuximab and we reassessed the patient after 12 weeks with a whole-body CT scan, documenting stability in the size and radiologic features of the disease. Cetuximab, like all current treatments for advanced cSCC, is administered off-label and proved effective in preventing further progression of disease in our patient.
Diagnostic challenges and management of choledochal cyst in an 11-year-old child: a delayed diagnosis (a case report)
Authors: Novath Julius Ngowi, Kaitila Murusuri, Ally Mwanga, Yona Ringo
Journal: Pan Afr Med J (2021)
Keywords: choledochal cyst, case report, cholangioenterostomy, hepatojejunostomy
MeSH terms: Choledochal Cyst / diagnostic imaging, Choledochal Cyst / surgery, Case Reports, Adult, Child, Child, Preschool, Cholangiography, Cholangiopancreatography, Endoscopic Retrograde, Delayed Diagnosis, Female, Humans, Ultrasonography

Choledochal cyst are rare congenital disease of the biliary tree. It presenting as cystic dilatations of the biliary tree can involve the extrahepatic biliary radicles, the intrahepatic biliary radicles or both. They are typically a surgical problem of infancy and childhood, but less than a quarter of the patients the diagnosis is delayed until adulthood as it presenting with vague and nonspecific signs and symptoms. In a case with biliary symptoms, abdominal ultrasound scan is the initial imaging modality of choice. Precise and accurate delineation of the biliary system mandates cholangiography with the advantage of non-invasive magnetic resonance cholangiopancreatography (MRCP) over endoscopic retrograde cholangiopancreatography. A case report of 11-year-old Tanzania girl with abdominal swelling and jaundice presented to a health facility for evaluation. She complained of abdominal swelling that her mother noticed when she was 3 years old, located above the umbilicus and since then it was not changed its size until 8 years later when it rapidly increased in size associated with non-specific dull pain. Abdominal computed tomography (CT) scan was done showed A well-defined hypo-attenuated non-enhancing retro-gastric cyst. Percutaneous transhepatic cholangiopancreatography (PTC) was performed due to inconclusive findings from CT-scan showed extrahepatic huge cystic dilatation, dilated central right hepatic ducts, left intrahepatic ducts failed to be visualize. Diagnosis of choledochal cyst type isovaleric acidaemia (IVA) was made. Explorative laparotomy was done, huge cystic mass occupying common bile duct was seen below the liver with distended gallbladder covered with visceral peritoneum. Second part of duodenum, pancreases and transverse colon was adhered to the inferior surface of the mass that further make difficult for cyst excision and reconstruction. Cyst was decongested and cholangioenterostomy with Roue-en-Y reconstruction was made. Cholecystectomy was done, hemostasis archived abdomen closed and patient sent to Intensive care units (ICU). Despite of advanced diagnostic modalities, delayed diagnosis of choledochal cyst can be a challenge due to its vague and nonspecific signs and symptoms. Excision of the cyst and reconstruction by hepatojejunostomy as the standard therapy could be difficult due to its biliary complications such as adhesion and infection and hence cyst-enterostomy drainage procedure can be done as option for relief of patient discomfort and prevent further complications.
Non-puerperal uterine inversion due to submucous myoma in a young woman: a case report
Authors: Marjolijn de Vries, Denise Arlette Maria Perquin
Journal: J Med Case Rep (2010)

Introduction:
Inversion of the uterus is an uncommon complication of the puerperium and it is an even rarer complication of the non-puerperal period. A submucous myoma is mostly the cause of the non-puerperal inversion but diagnosis can be difficult. In young women, non-puerperal uterine inversion is likely associated with a malignancy.
Case presentation:
A 19-year-old nulliparous woman presented with abnormal vaginal bleeding, dysmenorrhoea, and a large mass protruding from her cervix. The mass was interpreted as a prolapsed pedunculated submucosal myoma. After extirpation of the mass by clamping and twisting its pedicle, a laparotomy was required under suspicion of a uterine rupture. The diagnosis was confirmed and the patient's uterus could be preserved. Pathological examination revealed a submucous myoma. The uterine inversion happened when the uterus retracted to expel the submucous myoma with fundal attachment. By extirpating the stalk the fundus was also resected, causing a uterine rupture.
Conclusion:
We report a case of non-puerperal uterine inversion associated with a benign submucous myoma. Non-puerperal uterine inversion is very uncommon in women of reproductive age and is usually caused by a malignant tumour. However, uterine-sparing surgery should be attempted in young women until the final pathology is known.