Constipation as an Atypical Sign of ARC Syndrome - Case Report

Current Health Sciences Journal

Virtut Velmishi ; Ermira Dervishi ; Donjeta Bali ; Armand Shehu ; Paskal Cullufi

关键词: arthrogryposis;    renal tubular acidosis;    cholestasis;   

学科分类：医学（综合）

来源: Universitatea de Medicina si Farmacie din Craiova / University of Medicine and Pharmacy

【 摘 要 】

Background: Arthrogryposis- renal tubular dysfunction - cholestasis (ARC) syndrome is a rare multisystem disorder originally described in 1973 and recently ascribed to mutation in VPS33 B whose product acts in intracellular trafficking. It exhibits wide clinical variability but the constipation isn a characteristic clinical sign. Case: This girl presented after birth severe contractures of legs. She was admitted at 30 days of age with poor feeding, cholestatic jaundice with normal GGT and failure to thrive . Also we have noted a severe acidosis (pH=7.2) associated with aminoaciduria and glucosuria. At second month of age the girl presented a severe ichtyosis, recurrent fever and constipation. Apart from treatment the constipation has persisted. The baby died of sepsis at 12 weeks of age. Conclusion: ARC syndrome exhibits notable clinical variability. Constipation has not been reported previously on the contrary diarrhea is a frequent clinical sign. Knowledge of this rare condition can benefit the practitioner as well as the patient.

【 授权许可】

Unknown