Author(s):
1. Muhammad Mohsin Sajjad:
Royal College of Physicians, Ireland
2. Sidra Yousaf:
College of Physicians & Surgeons, Karachi, Pakistan
Abstract:
Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination. We report a case of a 15-year-old girl with 6 months history of progressive muscular weakness, poor school performance, gradual memory loss and gait disturbance. Neurological examination was grossly normal, except mild muscle wastage in both upper and lower limbs and slight reduction of power globally in all limbs. Routine bloods including a lumbar puncture was normal and the diagnosis of metachromatic leukodystrophy was made on the findings of magnetic resonance imaging (MRI) brain.
Page(s):
2255-2256
Published:
Journal: Pakistan Armed Forces Medical Journal, Volume: 71, Issue: 6, Year: 2021
Keywords:
Leukodystrophy
,
Demyelination
,
Arylsulphatase
References:
References are not available for this document.
Citations
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