Abstract
An 11-year-old boy presented with toe-walking, hyperkeratosis of the skin, dysarthric
speech, and mild mental retardation. On neurological examination, mild fasciculation
in the eyelids and bilateral end-point nystagmus were noted. Speech quality was dysarthric,
muscle tone, strength, and deep tendon reflexes increased tone, reflexes, and mild
weakness (4/5), and bilateral Babinski sign was noted in the lower extremities. Cranial
magnetic resonance imaging revealed a T2-signal increase in the right temporal lobe.
Sjögren–Larsson syndrome based on clinical and neurological findings was confirmed
with the identification of a homozygous c.983T˃C(p.Met328Thr) mutation in the ALDH3A2 gene; both parents were heterozygous for the same mutation.
Keywords
congenital ichthyosis - mental retardation - enzyme deficient