Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism.

Abstract

Two sibs with an infantile onset of hyperglycemia, recurrent hepatitis, renal insufficiency, developmental delay, and skeletal epiphyseal dysplasia are described. Clinical presentation and radiological features are suggestive of Wolcott-Rallison syndrome, a rare autosomal recessive disease. In both of our cases we found evidence of central hypothyroidism, which appears to be an associated feature of this syndrome. Hypothyroidism should be suspected and screened for in all cases of Wolcott-Rallison syndrome.

• Authors: Bassam Bin-Abbas, Abdulmohsen Al-Mulhim, Abdullah Al-Ashwal
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 111 Issue 2 Pg. 187-90 (Aug 01 2002) ISSN: 0148-7299 [Print] United States
• PMID: 12210348 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2002 Wiley-Liss, Inc.

Topics

• Child, Preschool
• Developmental Disabilities (etiology, genetics)
• Diabetes Mellitus, Type 1 (complications, diagnosis)
• Epiphyses (abnormalities, diagnostic imaging)
• Female
• Hepatitis (etiology, genetics, pathology)
• Humans
• Hyperglycemia (etiology, genetics, pathology)
• Hypothyroidism (etiology, genetics)
• Male
• Osteochondrodysplasias (complications, diagnostic imaging)
• Radiography
• Renal Insufficiency (etiology, genetics)
• Syndrome