Home Archive Vol.42, No.2, 2016 Constipation as an Atypical Sign of ARC Syndrome - Case Report

Constipation as an Atypical Sign of ARC Syndrome - Case Report

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

DOI 10.12865/CHSJ.42.02.13 


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Volume 42 Issue 2 2016