gerstmann-straussler-scheinker disease/diarré

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Metronidazole-induced encephalopathy during treatment for refractory diarrhea after cord blood transplantation.

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A 56-year-old man underwent cord blood transplantation for angioimmunoblastic T-cell lymphoma. He developed severe diarrhea and abdominal pain that persisted for more than 4 months. We suspected that he might have cord colitis syndrome (CCS), so metronidazole (MNZ) was administered. The patient's

Thiamine-deficient optic neuropathy associated with Wernicke's encephalopathy in patients with chronic diarrhea.

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The deficiency of thiamine manifesting as Wernicke's encephalopathy (WE) and concurrent optic neuropathy is rare. Herein, we report the case of a 29-year-old patient who suffered from bilateral sudden blindness and a disturbance of consciousness after 2 months of chronic diarrhea and minimal food

Production and oxidation of short-chain fatty acids in the human colon: implications for antibiotic-associated diarrhea, ulcerative colitis, colonic cancer, and hepatic encephalopathy.

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Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies.

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A 14-year-old boy with mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease had a lifelong history of failure to thrive and gastrointestinal symptoms including vomiting, pain, and diarrhea, leading to progressive cachexia. At the age of 9 years, after an extensive workup, the diagnosis

Ethylmalonic encephalopathy. Another patient from Kuwait.

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We report a Kuwaiti girl with ethylmalonic encephalopathy. She presented at the age of 4 months with chronic mucoid diarrhea and delayed psychomotor development, and at 6 months she developed myoclonic epilepsy. She was found to have central hypotonia with pyramidal tract signs, acrocyanosis, and

[Mitochondrial DNA T to G mutation 8993 in Leigh encephalopathy and organic aciduria].

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We report a 10-month-old female infant with Leigh encephalopathy caused by a T to G mutation at nucleotide 8993 of mitochondrial DNA. Initial manifestations were diarrhea and pyrexia, followed by disturbance of consciousness. Blood chemistry showed lactic acidosis, and cranial T2 weighted magnetic

Ethylmalonic encephalopathy: clinical and biochemical observations.

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Ethylmalonic encephalopathy (EE) is a rare, recently defined inborn error of metabolism which affects the brain, gastrointestinal system and peripheral blood vessels and is characterized by a unique constellation of clinical and biochemical features. A 7-month-old male, who presented with

Treatment of chronic portal-systemic encephalopathy with lactose in lactase-deficient patients.

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A controlled cross-over clinical comparison of lactose (50 g twice a day) versus neomycin (3 g/day) plus milk of magnesia, was carried out in ten cirrhotic patients with chronic portal-systemic encephalopathy and documented lactase deficiency. Serial semiquantitative assessments were done including:

In vitro and in vivo lactose and lactulose effects on colonic fermentation and portal-systemic encephalopathy parameters.

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Lactose intolerance occurs in the majority of human groups, excluding people from Northern Europe. Because its effect is similar to that of lactulose, lactose seems to be an alternative treatment for patients with portal-systemic encephalopathy (PSE) and lactase deficiency. The mechanism of action

Wernicke`s encephalopathy manifesting with diplopia after ileojejunostomy: report of a pediatric case with Hirschsprung disease

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Background: Wernicke`s encephalopathy (WE) is a coenzyme-induced disease with acute neuropsychiatric symptoms leading to high mortality and morbidity due to thiamine deficiency. WE is mostly caused by alcoholism in adult populations;

Wernicke's encephalopathy in a child with acute lymphoblastic leukemia treated with polychemotherapy.

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We report on a 3 3/4-year-old girl with acute lymphoblastic leukemia. Polychemotherapy caused a complete remission of the tumor. Six months after treatment was started, the patient developed vomiting and diarrhea necessitating parenteral nutrition. Disturbance of eye movements appeared 4 weeks

Wernicke's encephalopathy. A case report with neurophysiologic and CT-scan studies.

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A case of Wernicke's encephalopathy with ataxia, confusion, memory loss, partial seizures of complex behavior and hypothermia, subsequent to thiamine depletion due to chronic malnourishment and triggered by an episode of acute vomiting and diarrhea, is reported, Computerized tomography (CT-scan)

A Case of Wernicke Encephalopathy Developing After Ileal Bypass Surgery.

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Wernicke encephalopathy is an acute neurological problem resulting from thiamine deficiency and manifesting with mental confusion, oculomotor dysfunction, and ataxia. It is associated with alcohol dependence in adults. Preparatory factors include hyperemesis gravidarum, prolonged diarrhea, prolonged

[Clinical and genetic analysis of a case with atypical ethyl malonate encephalopathy].

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OBJECTIVE To delineate the clinical and genetic characteristics of a girl featuring motor retardation, language retardation and regression, and light persisting diarrhea. METHODS The patient was clinically examined and tested by tandem mass spectrometry and next generation sequencing. RESULTS The

Ethylmalonic Encephalopathy in an Indian Boy.

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BACKGROUND Ethylmalonic encephalopathy is a rare inborn error of metabolism characterized by neurodevelopmental delay / regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. UNASSIGNED 4-year-old boy with developmental regression, chronic diarrhea, petechial spots and

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