Metachromatic leukodystrophy

Alternative names:

MLD

Symptoms:

• irritability
• decreased muscle tone
• falls frequently
• decreased intellectual functioning
• speech difficulties, slurring
• feeding difficulties
• swallowing difficulty

Signs and tests:

• decreased or absent deep tendon reflexes
• nystagmus (abnormal eye movements)
• poor visual fixation
• optic nerve atrophy
• decorticate posturing
• coma

Tests:

• nerve velocity conduction studies
• MRI
• CT scan
• lumbar puncture and examination of the cerebrospinal fluid showing increased CSF total protein
• nerve biopsy (usually performed on the sural nerve) showing metachromatic deposits
• urine chemistry showing sulfatide levels
• urinalysis showing metachromatic granules in the urine sediment
• culture of skin fibroblasts or white blood cells for decreased arylsulfatase A activity