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Child with Metachromatic Leukodystrophy

I am a medical officer from Sri Lanka.My child is 2 year old girl. She started regressing her mile stones of development since an ahe of 18 months; up to which she was developmentally healthy. She started to have frequent falls was ataxic and deteriorated rapidly. Now she cann't satnd with out support. She has a marked action tremor. And I find a difficulty in her verbalization and feeding due to incordination in the pharyngeal muscles.We have no familial neurological disorders and we are not consanguinous. She is hypertonic now all four limbs, withe brisk tendon rflexes. (Lower limbs more affected than the upper limbs). I noticed brief infrequent extensor spasms of her for last 2 weeks. Her MRI scan brain has been reported to have evidence of Metachomatic Leukodystrophy. My problems,
1. How can I get the diagnosis confirmed - Let me know the institutions with the facility.
2. What treatment modalities are available?
3. How effective is the stem cell Trans plantation  
1 Responses
Avatar universal
Hi there. I empathize with you and understand your predicament. The diagnosis can be confirmed by decreased arylsulfatase A enzyme activity in leukocytes or in cultured skin fibroblasts. Brain MRI to identify white matter lesions and atrophy, nerve conduction studies and neuropsychological testing. biopsy specimens from peripheral nerves, kidney and gall bladder show metachromatic granules . This is a terminal disease and no standard treatment is there. Pain and symptom management and for presymptomatic and mild to moderate symptoms, bone marrow transplantation including stem cell transplantation which may slow down disease progression or CNS progression. Certain options are still under investigation like gene therapy and enzyme replacement therapy etc. Take care and all the best.

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