CHSJ

Curr Health Sci J, vol. 42, no. 2, 2016

Constipation as an Atypical Sign of ARC Syndrome - Case Report

[Case reports]

VIRTUT VELMISHI(1), ERMIRA DERVISHI(1), DONJETA BALI(2), ARMAND SHEHU(3), PASKAL CULLUFI(1)


(1)Service of Pediatric Gastrohepatology, University Hospital Center “Mother Teresa” Tirana-Albania,
(2)Service of Pediatric Hematology, University Hospital Center “Mother Teresa” Tirana-Albania,
(3)Service of Pediatric Neurology, University Hospital Center “Mother Teresa” Tirana-Albania


Abstract:

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’t 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.


Keywords: arthrogryposis, renal tubular acidosis, cholestasis



Corresponding: Virtut Velmishi, Mother Teresa Hospital; Dibra street nr 370, Tirana-Albania; e-mail: tutimodh@yahoo.com


DOI 10.12865/CHSJ.42.02.13 - Download PDF
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