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Journal of Medical Case Reports

Maria Manuel Costa, César Esteves, José Luís Castedo, Josué Pereira, Davide Carvalho
BACKGROUND: Combined central diabetes insipidus and cerebral salt wasting syndrome is a rare clinical finding. However, when this happens, mortality is high due to delayed diagnosis and/or inadequate treatment. CASE PRESENTATION: A 42-year-old white man was referred to neurosurgery due to a non-functional pituitary macroadenoma. He underwent a partial resection of the tumor on July 2, 2015. On the day following surgery he presented polyuria with sodium 149 mEq/L, plasma osmolality 301 mOsm/kg, and urine osmolality 293 mOsm/kg...
July 17, 2018: Journal of Medical Case Reports
Eva Gatzweiler, Bernd Hoppe, Oliver Dewald, Christoph Berg, Andreas Müller, Heiko Reutter, Florian Kipfmueller
BACKGROUND: Survival of neonates with intrauterine renal insufficiency and oligo- or anhydramnios correlates with the severity of secondary pulmonary hypoplasia. Early prenatal diagnosis together with repetitive amnioinfusions and modern intensive care treatment have improved the prognosis of these neonates. Extracorporeal membrane oxygenation is an established treatment option, mainly applied to neonates with pulmonary hypoplasia caused by congenital diaphragmatic hernia. However, a few case reports of extracorporeal membrane oxygenation in neonates with lower urinary tract obstruction have been published...
July 17, 2018: Journal of Medical Case Reports
Bilal Aoun, Mohammad Alali, Jad A Degheili, Sami Sanjad, Claudine Vaquin, Jean Donadieu, Tim Ulinski, Salah Termos
BACKGROUND: Levamisole belongs to the antihelminthic class of drugs that are sometimes administered to patients with frequently relapsing or steroid-dependent nephrotic syndrome, owing to its steroid-sparing effects. Neutropenia and skin lesions, compatible with vasculitis, have been reported as drug complications, but they are rarely associated with any systemic involvement. CASE PRESENTATION: We report a case of a 9-year-old Arab boy with steroid-dependent nephrotic syndrome who was treated with levamisole after his third relapse...
July 16, 2018: Journal of Medical Case Reports
Furene Sijia Wang, Denise Li Meng Goh, Hian Tat Ong
BACKGROUND: Urea cycle disorders are secondary to defects in the system converting ammonia into urea, causing accumulation of ammonia and other byproducts which are neurotoxic. Ornithine transcarbamylase deficiency is the most common of the urea cycle disorders and frequently presents with coma or seizures during hyperammonemia. However, seizures can also occur without metabolic decompensation. CASE PRESENTATION: We describe a 23-year-old Chinese woman with urea cycle disorder who presented with confusion due to focal seizures arising from the left frontotemporal region...
July 15, 2018: Journal of Medical Case Reports
Jiaojiao Liu, Qian Shen, Guomin Li, Hong Xu
BACKGROUND: The p.R63W mutation in hepatocyte nuclear factor-4 alpha (HNF4A) leads to a heterogeneous group of disorders with various clinical presentations. Recently, patients with congenital hyperinsulinism and Fanconi syndrome due to the p.R63W mutation in HNF4A have been described. Although other clinical variations such as liver dysfunction have been associated with HNF4A mutations, hearing impairment has not previously been associated. We report the case of a patient with Fanconi syndrome and hyperinsulinemic hypoglycemia caused by the mutation of HNF4A presenting with additional auditory phenotypes...
July 14, 2018: Journal of Medical Case Reports
Kenta Furutani, Mari Matsuhashi, Hiroyuki Deguchi, Yusuke Mitsuma, Nobuko Ohashi, Hiroshi Baba
BACKGROUND: It is believed that ketamine does not affect motor-evoked potential amplitude, whereas various anesthetic drugs attenuate the amplitude of transcranial motor-evoked potential. However, we encountered a patient with marked attenuation of motor-evoked potential amplitude after intravenous bolus administration of ketamine. CASE PRESENTATION: A 15-year-old Japanese girl with a diagnosis of adolescent idiopathic scoliosis was admitted to our hospital to undergo posterior spinal fusion at T4-L3...
July 13, 2018: Journal of Medical Case Reports
Stefanie Geith, Julia Walochnik, Franz Prantl, Stefan Sack, Florian Eyer
BACKGROUND: Acanthamoeba species can cause disseminating infections in immunocompromised individuals. CASE PRESENTATION: Here, we report a case of granulomatous acanthamoebic encephalitis with a lethal outcome in a 54-year-old German man who was human immunodeficiency virus-positive. The diagnosis was based on symptoms of progressive neurological deficits, including sensorimotor paralysis of his right leg and deteriorating alertness. Due to the rapid course and rather late diagnosis of the infection, effective treatment could not be applied and he died 12 days after hospital admission...
July 12, 2018: Journal of Medical Case Reports
Pedro José Palacios Argueta, Guillermo Francisco Sánchez Rosenberg, Alvaro Pineda
BACKGROUND: Severe hyponatremia is rare when carbamazepine is used as monotherapy. It is common to encounter this imbalance in the hospital setting, but rare in the ambulatory one. Here, we present a case of hyponatremia secondary to carbamazepine use in an otherwise asymptomatic patient. CASE PRESENTATION: A 44-year-old Guatemalan woman presented to our outpatient clinic with a chief complaint of left knee pain. One month prior, our patient had previously consulted with an outside physician, who prescribed her with 300 mg of carbamazepine, 5 mg of prednisone every 24 hours, and ibuprofen every 8 hours as needed...
July 11, 2018: Journal of Medical Case Reports
Daisuke Usuda, Yoshiki Furumura, Kento Takeshima, Ryusho Sangen, Yasuhiro Kawai, Yuji Kasamaki, Yoshitsugu Iinuma, Tsugiyasu Kanda
BACKGROUND: Adult onset Still's disease is a systemic auto-inflammatory condition of unknown etiology characterized by intermittent spiking high fever, an evanescent salmon-pink or erythematous maculopapular skin rash, arthralgia or arthritis, and leukocytosis. Recently, a high level of interleukin-18 has been reported as a new characteristic marker. On the other hand no reports have been published on high interleukin-18 as a marker in older patients. We report a case of adult onset Still's disease in an older patient successfully treated with steroids in which interleukin-18 was a useful marker of disease activity...
July 10, 2018: Journal of Medical Case Reports
Muhammad Usman Janjua, Xiao-Dan Long, Zhao-Hui Mo, Chang-Sheng Dong, Ping Jin
BACKGROUND: Medullary sponge kidney is a rare renal malformation, which usually manifests as nephrocalcinosis, renal tubular acidosis, and recurrent urinary tract infections. Medullary sponge kidney is often associated with renal developmental anomalies and tumors, and its exact pathogenesis is not yet clearly explained. Given the key role of the interaction of glial cell line-derived neurotrophic factor gene, GDNF, and the "rearranged during transfection" proto-oncogene, RET, in kidney and urinary tract development, variations in these genes are proposed to be candidates for medullary sponge kidney...
July 9, 2018: Journal of Medical Case Reports
Ghita Senhaji, Salim Gallouj, Ouiame El Jouari, Amina Lamouaffaq, Mouna Rimani, Fatima Zahra Mernissi
BACKGROUND: Glomus tumors are rare, benign, vascular neoplasms arising from the glomus body. Although they can develop in any part of the body, they commonly do so in the upper extremities, most frequently subungual areas. They can be either solitary or multiple. Most typically they present as a small, round, bluish nodule visible through the nail plate with a classic triad of symptoms: hypersensitivity to cold, heightened pinprick sensitivity, and paroxysmal pain. Several tests can help in diagnosing these tumors with multiple imaging tools such as X-ray, magnetic resonance imaging, and ultrasonography...
July 8, 2018: Journal of Medical Case Reports
Bamidele Johnson Alegbeleye
BACKGROUND: We report two cases of innocuous dentoalveolar infections which rapidly progressed to deep neck abscesses complicated by descending mediastinitis in a resource-constrained rural mission hospital in the Cameroon. CASE PRESENTATION: The clinical presentations of a 35-year-old man and a 32-year-old woman both of Fulani origin in the Northern region of Cameroon were similar with submandibular fluctuant and tender swelling and differential warmth to palpation...
July 7, 2018: Journal of Medical Case Reports
Ahmed Amdihun Essa, Lakachew Asrade Feleke, Dawed Muhammed Ahmed
BACKGROUND: The term holoprosencephaly was proposed by DeMyer and Zeman. It is a developmental defect of the embryonic forebrain with heterogeneous etiology including genetic and environmental factors. It is commonly associated with midfacial defects and has a spectrum of presentations. There are four types: alobar, semilobar, lobar, and variant. Holoprosencephaly is relatively rare. The overall prevalence in a multicenter study was 1 in 13,000 to 18,000 live births. However, the presentation of holoprosencephaly with cebocephaly, micropenis, agenesis of middle phalanges of the fifth finger, and postaxial polydactyly in association with early onset preeclampsia is extremely rare...
July 7, 2018: Journal of Medical Case Reports
Elisabeth Doran, John D Sheehan
BACKGROUND: Catatonia is a behavioral syndrome which presents with an inability to move normally. It is associated with mood disorders and schizophrenia, as well as with medical and neurological conditions. It is an expression of the severity of the underlying condition. The awareness of catatonia among general medical doctors and even psychiatrists is poor. It is often seen as an historical diagnosis. Because of this, catatonia is often not recognized. If patients in catatonic states are not diagnosed, their condition is likely to progress with a risk of increased morbidity and potentially fatal outcomes...
July 6, 2018: Journal of Medical Case Reports
Jonathan Bourget-Murray, Mathew A Clarke, Sydney Gorzitza, Lisa A Phillips
BACKGROUND: Venous thromboembolism, specifically pulmonary embolism, is a rare complication following elective pediatric orthopedic surgery. Bilateral pulmonary embolism with associated pulmonary hemorrhage/infarct without concomitant deep vein thrombosis has never been reported following routine anterior cruciate ligament reconstruction in an adolescent. CASE PRESENTATION: A 16-year-old white girl presented with acute onset shortness of breath and pleuritic chest pain 6 days following elective anterior cruciate ligament reconstruction...
July 6, 2018: Journal of Medical Case Reports
Karim Masmoudi, Emna Elleuch, Rim Akrout, Afef Feki, Mariam Ezzeddine, Hela Fourati, Dorra Lahiani, Mounir Ben Jemaâ, Sofiène Baklouti
BACKGROUND: Septic arthritis is an infectious disease that commonly affects weight-bearing or proximal joints such as the knee and the hip. The sternoclavicular joint is an unusual site of this entity. It usually occurs in patients with diabetes mellitus, intravenous drug abusers, or those with rheumatoid arthritis. Analysis of the previous literature showed few articles and these described essentially cases of unilateral presentation. CASE PRESENTATION: We report a rare case of a bilateral septic arthritis of the sternoclavicular joint sustained by a 71-year-old Tunisian woman whose medical history was significant for methicillin-resistant Staphylococcus aureus infective endocarditis 6 months ago...
July 5, 2018: Journal of Medical Case Reports
Luma Haj Kassem, Mohamed Fares Ahmado, Majd Sheikh Alganameh
BACKGROUND: Waardenburg syndrome is a group of rare genetic conditions. It is determined by the absence of melanocytes from the eyes, hair, and skin. There are four types of Waardenburg syndrome with specific criteria to diagnosis the different types. The main clinical manifestations are facial abnormalities, pigmentary defects, and hearing loss with no specific predilection with regard to sex or race. CASE PRESENTATION: An Arabic Syrian family, consisting of 14 siblings from third-degree relative parents with a low income, living in the Syrian countryside, presented to our institute with their 8-year-old son who had congenital hearing loss that had led to his inability to speak...
July 5, 2018: Journal of Medical Case Reports
Feride Mehmetoğlu
BACKGROUND: In the current treatment of idiopathic ovarian torsion, the use of oophorectomy has declined in favor of preserving the ovary. This approach brings with it the question of how to reduce the possibility of retorsion of the detorsioned ovary. The aim of this study was to analyze how retorsion can be prevented. METHODS: Five patients (a 30-day-old Caucasian girl, a 55-day-old Caucasian girl, an 8-year-old Caucasian girl, a 10-year-old Caucasian girl, and a 16-year-old Caucasian girl) who underwent surgery due to non-neoplastic ovarian torsion were retrospectively analyzed for diagnosis and treatment in terms of reducing the possibility of retorsion...
July 4, 2018: Journal of Medical Case Reports
Ichiro Hirayama, Takahiro Hiruma, Yoshihiro Ueda, Kent Doi, Naoto Morimura
BACKGROUND: Although 0.8 mg/kg is considered a lethal dose of colchicine, fatal cases of patients who followed a critical disease course after an intake below this lethal dose have been reported. CASE PRESENTATION: An 18-year-old Japanese woman who had taken an overdose of prescription colchicine (15 mg; 0.2 mg/kg) was brought to our emergency out-patient department. Although her colchicine intake was below 0.8 mg/kg (considered the lethal dose), she reached a critical state and underwent three phases characterizing colchicine poisoning (gastrointestinal symptoms, multiple organ failure, and recovery)...
July 4, 2018: Journal of Medical Case Reports
Antoine Ponard, Nicole Ferreira-Maldent, Marjan Ertault, Martine Delain, Kamel Amraoui, Sandra Regina, Annie-Pierre Jonville-Béra, Olivier Hérault, Philippe Colombat, Emmanuel Gyan
BACKGROUND: Diabetes and myelodysplastic syndrome are two conditions that may coexist in a single patient, since both diseases are prevalent in the elderly. The pathophysiology of myelodysplastic syndrome involves recurrent genetic mutations, especially in genes controlling epigenetic regulation. Although the pathophysiology of diabetes is not well understood, several studies suggest a role of epigenetics in type 2 diabetes. CASE PRESENTATION: We report here for the first time the case of a 75-year-old Caucasian man who was treated for both diabetes and acute myeloid leukemia secondary to myelodysplastic syndrome, with a temporal association between glycemic dysregulation and the intake of 5-azacitidine...
July 3, 2018: Journal of Medical Case Reports
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