Arthrogryposis, renal dysfunction and cholestasis syndrome.
We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and renal tubular dysfunction from a Saudi family with 2 other siblings and 3 cousins who possibly died with a similar clinical picture. We also document for the second time in literature other findings in this syndrome including cerebral abnormalities (hypoplastic corpus callosum), congenital heart disease and nerve deafness. We suggest that some of these cases might benefit from ursodeoxycholic acid therapy. We believe that this autosomal recessive disorder is possibly under-diagnosed in this region with a high consanguineous marriage rate.
Abdullah
M A
MA
Endocrinology & Metabolism Unit, Deparment of Pediatrics, Box 9, Security Forces Hospital, PO Box 3643, Riyadh 11481, Kingdom of Saudi Arabia. mohamedabdullah@hotmail.com
Al-Hasnan
Z
Z
Okamoto
E
E
Abomelha
A M
AM
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D000141:Acidosis, Renal Tubular / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D001176:Arthrogryposis / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D001284:Atrophy; D002779:Cholestasis / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D003241:Consanguinity; D003337:Corpus Callosum / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D012189:Retrospective Studies; D012529:Saudi Arabia / Q000453:epidemiology; D013577:Syndrome; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use
D014580:Ursodeoxycholic Acid