Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report

Introduction Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B whose product acts in intracellular trafficking. It exhibits wide clinical variability. Arthrogryposis, spillage of various subs...

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Bibliographic Details
Published in:European journal of pediatrics 2009-08, Vol.168 (8), p.995-998
Main Authors: Arhan, Ebru, Yusufoğlu, Arzu Meltem, Şayli, Tülin Revide
Format: Article
Language:English
Subjects:
Abnormalities, Multiple
Arthrogryposis
Biological and medical sciences
Diseases of the osteoarticular system
Fatal Outcome
Female
Fractures, Spontaneous - congenital
Gastroenterology. Liver. Pancreas. Abdomen
General aspects
Hip Dislocation, Congenital
Humans
Hyperbilirubinemia, Neonatal
Infant, Newborn
Kidney Diseases, Cystic - pathology
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Medicine
Medicine & Public Health
Other diseases. Semiology
Pediatrics
Renal Tubular Transport, Inborn Errors - pathology
Short Report
Syndrome
Turkey
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Summary:Introduction Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B whose product acts in intracellular trafficking. It exhibits wide clinical variability. Arthrogryposis, spillage of various substances in the urine, and conjugated hyperbilirubinemia define an ARC core phenotype, in some patients associated with ichthyosis, central nervous system malformation, deafness, and platelet abnormalities. Many patients with different associations of cholestasis, renal tubular acidosis, and dysmorphic morphology may be underdiagnosed. Case report We report the third patient of ARC syndrome from Turkey with an incomplete form with renal tubular dysfunction and cholestasis in the absence of arthrogryposis but exhibiting other rare features. Conclusion Our case highlights that the variability of involvement of different systems in ARC syndrome is well described; however, the renal glomerulocystic appearance has not been reported previously. Knowledge of this rare condition can benefit the practitioner as well as the patient.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-008-0860-5