Abstract
Wolcott-Rallison syndrome is a rare autosomal recessive condition characterized by diabetes mellitus arising in early infancy and multiple epiphyseal dysplasia. To date, nine cases have been described in the world literature. We report an affected girl who died at the age of 4 years and on whom a full autopsy was performed. In addition to neonatal diabetes mellitus and epiphyseal dysplasia, this child had mental retardation and recurrent episodes of self-limiting hepatic failure. Autopsy revealed severe pancreatic hypoplasia and markedly abnormal pancreatic histology, while histology of the bone was consistent with epiphyseal dysplasia. There was laryngeal stenosis and pulmonary hypoplasia. The heart was enlarged with mitral value dysplasia and stenosis, left atrial dilatation, left ventricular hypertrophy, and endocardial fibroelastosis. Examination of the central nervous system showed arrhinencephaly and cerebellar cortical dysplasia. The liver showed minor histological abnormalities but no features were present to account for the recurrent hepatic failure. In addition to Wolcott-Rallison syndrome this child had a deletion at 15q11-12 in 65% of her cells.
Citations
May 27, 2008·Journal of Inherited Metabolic Disease·O SøvikA Molven
Jun 1, 2005·Archives of Medical Research·María Teresa Tusié Luna
Nov 5, 2010·Diabetes, Obesity & Metabolism·R J KaufmanJ Hassler
Nov 6, 2010·Orphanet Journal of Rare Diseases·Cécile Julier, Marc Nicolino
Feb 21, 2002·The Journal of Clinical Investigation·Seiichi OyadomariMasataka Mori
Aug 5, 2003·Molecular and Cellular Biology·Hao-Yuan JiangRonald C Wek
Jan 20, 2004·Molecular and Cellular Biology·Hao-Yuan JiangRonald C Wek
Apr 26, 2008·Endocrine Reviews·Donalyn Scheuner, Randal J Kaufman
Apr 26, 2008·Endocrine Reviews·Lydia Aguilar-Bryan, Joseph Bryan
Sep 15, 2011·Experimental Diabetes Research·Sung Hoon BackHun-Taeg Chung
Jun 6, 2009·Congenital Anomalies·Keitaro YamadaYoshinori Kohno
Apr 27, 2011·Pediatric Diabetes·André F ReisGilberto Velho
Aug 19, 2014·Pediatric Diabetes·Sophie Collardeau-FrachonMarc Nicolino
May 28, 2013·Neurobiology of Learning and Memory·Mimi A Trinh, Eric Klann
Jun 30, 2001·Molecular Cell·H P HardingD Ron
Jun 30, 2001·Molecular Cell·D ScheunerR J Kaufman
Jul 21, 2012·Cell Reports·Mimi A TrinhEric Klann
Sep 14, 2001·Best Practice & Research. Clinical Endocrinology & Metabolism·T G Barrett
Jul 10, 2010·Toxicological Sciences : an Official Journal of the Society of Toxicology·Ellen E CoddChristopher M Flores