A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY

  • Muhammad Mohsin Sajjad Royal College of Physicians Ireland
  • Sidra Yousaf College of Physicians & Surgeons, Karachi Pakistan
Keywords: Arylsulphatase, Demyelination, Leukodystrophy

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.

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Published
2022-01-01
How to Cite
Sajjad, M., & Yousaf, S. (2022). A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY. PAFMJ, 71(6), 2255-56. https://doi.org/10.51253/pafmj.v71i6.4362
Section
Case Reports