Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?
We report on two sibs (of 4) with a syndrome of minor facial anomalies, proportionate IUGR, neonatal non-autoimmune diabetes mellitus (NDM), severe congenital hypothyroidism (CH), cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by large kidneys and multiple small cysts with deficient corticomedullary junction differentiation and normal kidney function. The phenotype observed in the two sibs was identical. Although a combination of liver, kidney, and pancreatic involvement has been described in Ivemark syndrome (hepato-renal-pancreatic syndrome), the coexistence of NDM, CH, and glaucoma in both sibs suggests the possibility that this combination of manifestations describes a new autosomal recessive syndrome. Mutation analysis for several candidate genes is warranted.
Taha
Doris
D
Division of Pediatric Endocrinology, King Faisal Specialist Hospital and Research Center, PO Box 40047, Jeddah 21499, Kingdom of Saudi Arabia. dtaha@hotmail.com
Barbar
Maha
M
Kanaan
Hassan
H
Williamson Balfe
John
J
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D003409:Congenital Hypothyroidism; D003920:Diabetes Mellitus / Q000473:pathology*; D005192:Family Health; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005901:Glaucoma / Q000151:congenital / Q000473:pathology*; D006801:Humans; D007037:Hypothyroidism / Q000473:pathology*; D007223:Infant; D008103:Liver Cirrhosis / Q000473:pathology*; D008297:Male; D009154:Mutation; D007690:Polycystic Kidney Diseases / Q000473:pathology*; D013577:Syndrome