Clinical and cerebral FDG PET scan in a patient with Krabbe's disease

A 2-year, 6-month-old Saudi male with infantile Krabbe's disease was studie d with fluorine-18-labeled-2-fluoro-2-deoxyglucose positron emission tomogr aphy (FDG PET) scan. The patient presented with a gradual loss of developme ntal milestones, irritability, and crying, At the advanced stage of the dis ease, he developed tonic-clonic seizures and became a microcephalic, extrem ely irritable, blind, spastic quadriplegic child, with no deep tendon refle xes. Laboratory studies revealed normal blood chemistry, muscle enzymes, ve ry long chain fatty acids, and acylcarnitines. No abnormal urinary organic acids were detected, The cerebrospinal fluid protein concentration was incr eased. Magnetic resonance imaging of the brain revealed mild brain atrophy and white matter disease mainly in the centrum semiovale, Electroretinograp hy was normal; however, electroencephalography and visual-evoked potentials were abnormal. Peripheral nerve conduction studies documented a demyelinat ing neuropathic process, The FDG PET study of the brain demonstrated a mark ed decrease in the metabolism of the left cerebral cortex and no uptake in the caudate heads, Normal glucose uptake was observed in the thalami, lenti form nuclei, and cerebellum. The patient did not present for subsequent cli nic visits and is presumed dead. (C) 2000 by Elsevier Science Inc, All righ ts reserved.