Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.
Document Type
Article
Publication Date
1-2013
JAX Location
Reprint Collection
JAX Source
Clin Dysmorphol 2013 Jan; 22(1):7-12.
Volume
22
Issue
1
First Page
7
Last Page
12
ISSN
1473-5717
PMID
23188138
Abstract
Alström 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 Alström syndrome. Two age-matched, unrelated adolescent males of Serbian descent with Alström syndrome underwent an extensive workup of blood chemistries, and ophthalmological, audiological, and genetic evaluations. Although both showed typical features of Alström 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 Alström syndrome and may be an under-reported abnormality.
Recommended Citation
Kuburović V,
Marshall JD,
Collin GB,
Nykamp K,
Kuburović N,
Milenković T,
Rakić S,
Djuric M,
Ječmenica J,
Milenković S,
Naggert JK.
Differences in the clinical spectrum of two adolescent male patients with Alström syndrome. Clin Dysmorphol 2013 Jan; 22(1):7-12.