Spot Diagnosis

Neuroregrresion with spasticity

Question :
This 4 years old boy presented with frequent falls and regression of previously attained milestones. On examination, he had optic atrophy and spasticity.

What is the diagnosis?

Discussion :
Metachromatic leukodystrophy. Metachromatic leukodystrophy {MLD, also called Arylsulfatase A deficiency} is a lysosomal storage disease. Four types of MLD occur with varying ages of onset and courses {ie, late infantile, early juvenile, late juvenile, adult}. All forms of the disease involve a progressive deterioration of motor and neurocognitive function. Patients with the late infantile form are usually aged 4 years or younger and typically present initially with gait disturbances, loss of motor developmental milestones, optic atrophy, and diminished deep tendon reflexes. In addition, progressive loss of both motor and cognitive functions is fairly rapid, and death results within approximately 5 years after the onset of clinical symptoms.

Correct Answers : yes  20%

Last Shown : Mar 2010
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