Citation

Sharawat IK, Dawman L, Panda PK. J. Pediatr. Neurosci. 2020; 15(3): 332-333.

Copyright

(Copyright © 2020, Medknow Publications)

DOI

10.4103/jpn.JPN_6_20

PMID

33531963

Abstract

Late infantile metachromatic leukodystrophy is an autosomal recessive disorder caused by a deficiency in the enzyme activity of Aryl sulfatase-A. The classical presentation is characterized by gait disturbance, frequent fall, toe walking, impaired swallowing and feeding, seizures, progressive neuroregression, decorticate posture and early death. Here we report a toddler who presented with frequent falls and cognitive regression. Magnetic resonance imaging (MRI) showed a striking leopard skin pattern. Recognition of this pattern on MRI in proper clinical context can serve as a clue to the diagnosis.

Language: en

Keywords

Aryl sulfatase A; leopard skin pattern; metachromatic leukodystrophy; neuroregression; tigroid skin pattern