Arthrogryposis-renal Dysfunction-cholestasis Syndrome
Publish place: The Iranian Journal of Neonatology، Vol: 12، Issue: 2
Publish Year: 1400
نوع سند: مقاله ژورنالی
زبان: English
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JR_IRJN-12-2_017
تاریخ نمایه سازی: 18 اردیبهشت 1400
Abstract:
Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive disorder mostly affecting the liver, kidney, skin, as well as central nervous and musculoskeletal systems. This multisystemic disease results from mutations in the vacuolar protein sorting ۳۳B (VPS۳۳B) or VPS۳۳B- interacting protein, and apical-basolateral polarity regulator (VIPAR) genes. This is a lethal disorder from which few patients can survive at the first year of their life. This syndrome exhibits a wide range of phenotypes, such as ichthyosis, hypothyroidism, agenesis of the corpus callosum, and congenital cardiovascular anomalies. Case report: Here, we present the case of a ۳۲-day-old male neonate with respiratory distress admitted to Children's Medical Center Hospital in Tehran, Iran, in August ۲۰۱۹. He had ichthyosis, cholestasis with arthrogryposis as bilateral clubfeet, developmental dysplasia of the hip, and flexion contractures in upper limbs. During hospitalization, he received Shohl’s solution for metabolic acidosis, intravenous antibiotics, fat-soluble vitamins, and levothyroxine. Other presentations in our case included ichthyosis, failure to thrive, congenital heart disease, and hypothyroidism. Conclusion: Timely diagnosis, supportive care and genetic counseling should be provided for better outcome. Keywords:
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