Adult onset Krabbe disease may mimic motor neurone disease

• Published in: Journal of clinical neuroscience Vol. 10; no. 5; pp. 638 - 639
• Main Authors: Henderson, R.D, MacMillan, J.C, Bradfield, J.M
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier Ltd 01.09.2003; Elsevier
• Subjects: Age of Onset; Aged; Biological and medical sciences; Cerebrospinal Fluid Proteins - analysis; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Diagnosis, Differential; Fasciculation - etiology; Gait Apraxia - etiology; Galactocerebrosidase; Globoid cell leukodystrophy; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Krabbe disease; Leukodystrophy, Globoid Cell - diagnosis; Leukodystrophy, Globoid Cell - physiopathology; Medical sciences; Middle Aged; Motor Neuron Disease - diagnosis; Motor Neuron Disease - physiopathology; Motor neurone disease; Motor Neurons - physiology; Nervous system (semeiology, syndromes); Neural Conduction - physiology; Neurology; Walking; Motor neurone disease; Galactocerebrosidase; Krabbe disease; Globoid cell leukodystrophy; Human; Nervous system diseases; Motor neuron disease; Metabolic diseases; Lipids; Sphingolipidosis; Conduction velocity; Enzymopathy; Cerebral disorder; Genetic disease; Case study; Nerve conduction; Central nervous system disease; Degenerative disease; Diagnosis; Lipoidosis; Spinal cord disease
• ISSN: 0967-5868; 1532-2653
• DOI: 10.1016/S0967-5868(02)00302-8

Krabbe’s disease (galactocerebrosidase deficiency) rarely presents in adults, usually with predominantly upper motor neurone clinical features. We report a case in whom the clinical features were similar to motor neurone disease. Nerve conduction studies and neuroimaging were important in leading to the correct diagnosis. Differences in adult-onset presentations are described.