| CASE REPORT |
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| Year : 2022 | Volume
: 5
| Issue : 1 | Page : 43-45 |
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An infant with cholestasis and refractory electrolyte abnormalities
Hadel Alsubaie1, Yara S Kattan2, Turki A Alshareef3, Wajeeh Aldekhail3, Weiam Almaiman3
1 Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
2 Section of Pediatric Nephrology and Gastroenterology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
3 Department of Pediatrics, King Faisal Specialist Hospital and Research Center; Section of Pediatric Nephrology and Gastroenterology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
Correspondence Address:
Weiam Almaiman
Department of Pediatrics, King Faisal Specialist Hospital and Research Center, (MBC 58), P.O.B. 3354, Riyadh 11211
Saudi Arabia
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/ajpn.ajpn_36_21
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Arthrogryposis-renal dysfunction-cholestasis (ARC) is a rare multisystem disorder caused by mutations in the VPS33B gene, which in turn lead to a premature truncation of the gene product. This autosomal recessive disease has variations in phenotype. We report an infant girl who had severe presentation in the form of dysmorphic features, abnormal hearing assessment and refractory electrolytes disturbances. She was a product of consanguineous marriage with family history of similar presentation. The child passed away at age of 6 months due to aspiration pneumonia.
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