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Neonatal adrenoleukodystrophy

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Adrenoleukodystrophy

Alternative Names: X-linked adrenoleukodystrophy; Melanodermic leukodystrophy; Neonatal adrenoleukodyrstophy; NALD Symptoms: Neonatal type: seizures delayed neurological development frequent respiratory infections darkening of the skin color (increased skin pigmentation) Text Continues Below Childhood and adolescent type: hyperactivity decreasing school performance decreased understanding of verbal communication (aphasia) crossed eyes swallowing difficulties changes in muscle tone, especially muscle spasms and spasticity Progressive nervous system deterioration paralysis hearing loss visual impairment or blindness deteriorating fine motor control eventually may lead to a vegetative state  Symptoms of adrenal gland failure muscular weakness (asthenia) wasting (loss of weight, muscle mass) decreased appetite increased skin pigmentation Signs and tests: blood levels showing elevated long chain fatty acids skin biopsy and fibroblast culture showing elevated levels of long chain fatty acids MRI of the head showing damage to the white matter of the brain (white matter is a specific type of brain tissue) head CT shows damage to the white matter of the brain chromosome study (neolatal form - defects at chromosome 7q21-q22)

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