Immunodeficiency in a Child with Alström Syndrome
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To the Editor: Alström Syndrome (ALMS) is a very rare autosomal recessive genetic disorder characterized by childhood obesity, hearing loss, retinopathy, cardiomyopathy, recurrent pulmonary infections, diabetes, and progressive renal, hepatic and endocrinological dysfunction. It is caused by mutations in the ALMS1 gene . Here we present a case diagnosed as ALMS with additional findings including immunodeficiency.
A 4.5-y-old girl was born to nonconsanguineous parents at 32nd wk of gestation with birth weight 2180 g. She had hypothyroidism during neonatal period and required multiple hospitalizations due to recurrent pulmonary infections.
A physical examination was conducted and documented. The weight, height and head circumference were 5 kg (<3 percentile), 58 cm (<3 percentile) and 42 cm (<2 percentile) respectively, besides delayed developmental milestones.
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