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- Metachromatic Leukodystrophy
- Developmental regression
- degenerative brain disease
- stripe sign
- Arylsulfatase A
Case history
A three-and-half-year-old child presented with speech delay and recent onset falls. He walked at 14 months of age but speech was delayed with limited vocabulary.
He had become increasingly unsteady with weakness and pain in his legs in the past 6 months. The lower limb examination revealed no muscle wasting but hypertonia, hyper-reflexia, extensor plantar response and 4-beat ankle clonus bilaterally. He had bilateral foot-drop gait. The rest of the …
Footnotes
Contributors SG conceived the idea, obtained written informed consent from the parents and provided the initial draft of the manuscript. All authors contributed in arriving at the final version. ML provided expertise in the selection of the image.
Competing interests None declared.
Patient consent Guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.