Journal
CLINICAL DYSMORPHOLOGY
Volume 22, Issue 1, Pages 7-12Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MCD.0b013e32835b9017
Keywords
ALMS1; Alstrom syndrome; hypogonadotropic hypogonadism; partial lipodystrophy; tonic-clonic epilepsy
Categories
Funding
- National Institutes of Health [HD036878]
- US Public Health Service (PHS), National Institutes of Health [CA034196]
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Alstrom syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, cardiomyopathy, progressive renal and hepatic dysfunction, and endocrinological features such as severe insulin resistance, type 2 diabetes, hyperlipidemia, and hypogonadism. Widespread fibrosis leads to multiple organ failure. Mutations in ALMS1 cause Alstrom syndrome. Two age-matched, unrelated adolescent males of Serbian descent with Alstrom syndrome underwent an extensive workup of blood chemistries, and ophthalmological, audiological, and genetic evaluations. Although both showed typical features of Alstrom syndrome in childhood, several differences were observed that have not been reported previously. Patient 1 was first studied at the age of 13 years for multisystemic disease and re-evaluated at the age of 15.5 years. Patient 2 is a 15-year-old boy who presented at birth with epilepsy and psychomotor developmental delay and generalized tonic-clonic seizures with severe cognitive impairment, features not documented previously in this syndrome. Sequencing analysis indicated two novel ALMS1 mutations in exon 8: p.E1055GfsX4 and p.T1386NfsX15. Metabolic and physiological similarities were observed in both patients, including severe insulin resistance, and truncal obesity with fat loss suggestive of partial lipodystrophy, supporting evidence for a role for ALMS1 in adipose tissue function. The unusual phenotypes of clonic-tonic seizures and severe cognitive abnormalities and lipodystrophy-like adiposity pattern have not been documented previously in Alstrom syndrome and may be an under-reported abnormality. Clin Dysmorphol 22:7-12 (C) 2012 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins. Clinical Dysmorphology 2013, 22:7-12
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