NISCH syndrome, a rare cause of neonatal cholestasis: A case report.

We report on the case of a 2-year-old boy from a consanguineous Moroccan family, presenting with NISCH syndrome and carrying the so-called Moroccan homozygous mutation (c.200-201delTT). The patient presented with the characteristic symptoms of the syndrome and a favorable progression with normalization of hepatic analyses under symptomatic treatment (vitamin supplementation and ursodeoxycholic acid). The currently limited availability of clinical and therapeutic data does not allow accurate prediction of the course of the disease and short- and long-term prognosis. Moreover, substantial interindividual variability has been reported. Description of new cases will provide new insights into the understanding and the overall management of this syndrome, the course of which remains elusive. PMID: 29146216 [PubMed - as supplied by publisher]
Source: Archives de Pediatrie - Category: Pediatrics Authors: Tags: Arch Pediatr Source Type: research

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Source: The Journal of Steroid Biochemistry and Molecular Biology - Category: Biochemistry Source Type: research
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Source: The Journal of Steroid Biochemistry and Molecular Biology - Category: Biochemistry Source Type: research
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Source: The Journal of Steroid Biochemistry and Molecular Biology - Category: Biochemistry Source Type: research
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Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: PM&R Source Type: forums
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Source: Journal of Medical Economics - Category: Health Management Tags: J Med Econ Source Type: research
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Source: Journal of Immunoassay and Immunochemistry - Category: Biochemistry Tags: J Immunoassay Immunochem Source Type: research
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Source: Best Practice and Research Clinical Gastroenterology - Category: Gastroenterology Source Type: research
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Source: Journal of Ethnopharmacology - Category: Drugs & Pharmacology Source Type: research
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