Sjogren-larsson syndrome: A rare case report
Sjogren–Larsson syndrome (SLS), an autosomal recessive neurocutaneous disorder, is an inborn error of lipid metabolism characterized by a triad of congenital ichthyosis, intellectual disability, and spastic diplegia or quadriplegia.

Published in the Indian Journal of Dermatology, the authors report the case of a 3-year-old female child who presented to our outpatient department with congenital ichthyosis, intellectual disability, and spastic diplegia and was diagnosed as SLS.

A 3-year-old full-term female child, born out of non consanguineous marriage, presented to the skin department with complaints of dryness of the skin since birth. Her parents complained of delay in development of milestones. History of collodion membrane was present at birth. No history of seizures was present.

Clinical examination revealed generalized ichthyosis. Ichthyosis over the bilateral lower limbs was of the lamellar type. Accentuated skin markings, lichenification of the flexural areas, and periumbilical hyperkeratosis with radiating furrows were seen. The patient's nose was flattened and wide at the root and her eyes were hyperteloric. Neurological examination revealed intellectual disability, increased tone in lower limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic diplegia.

The upper limbs did not show any tone or deep tendon reflex abnormalities. The patient was unable to speak any meaningful words. Ophthalmological examination did not reveal any abnormality. Magnetic resonance imaging (MRI) of the brain revealed bilateral symmetrical confluent T2/fluid-attenuated inversion recovery (FLAIR) hyperintensity involving bilateral periventricular parietal white matter. Based on the above clinical and MRI findings, a diagnosis of SLS was made.

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