Sjögren-Larsson syndrome in two brothers: a case report

Abstract

Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. Magnetic resonance imaging showed demyelinating disease in one of these cases. Electrodiagnostic studies were normal in all cases.

Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome

“…However, the ocular defects and preterm delivery which is mentioned in some other reports of SLS were not detected. Although ocular symptoms were not found in this patient probably because of her young age (glistening white dots and photophobia usually appear after 4 years old), in the other few reports of SLS in Iran, these two signs were not also detected . So far, systematic genotype–phenotype correlations in SLS have not been available due to remarkable heterogeneity and the broad distribution of most mutations throughout patients from small families .…”

Sjogern - Larsson Syndrome: A Case Report

“…Over 200 cases worldwide have been reported. 4 Here we are reporting one case in a Bangladeshi family.…”

“…They consist of the accumulation of lipid substrates, delayed myelination, periventricular gliosis, and a permanent myelin deficit. 4 Skin biopsy demonstrated a lamellar ichthyosis. 8 This finding was present in this case.…”

“…The diagnosis was made later when neurologic signs appeared. 4 Neurologic signs usually appear between 4 and 30 months of age and the main neurological features are spastic diplegia or quadriplegia, developmental delays, mental retardation and conduction aphasia. About 30-60% of patients have convulsion during infancy.…”

“…If a person with SLS has seizures, these usually can be controlled with anti-seizure medication. 4 So management should be multidisciplinary with input from physiotherapy, occupational therapy, dermatology, speech therapy, neurology, ophthalmology and orthopedic services.…”