Assessment of the very young child with seizures is hampered by the very limited repertoire of which the nervous system is capable. Nevertheless, one can acquire a good estimate of the child’s capabilities by observing his or her level of alertness and interaction with the surroundings and the child’s vocalization, feeding habits, motor activity, and muscle tone. Severe hypotonia at birth and progressive spasticity are common to many neurodegenerative diseases.
Vision loss accompanies several neurodegenerative diseases, including:
Findings in the retina may include:
Cortical blindness as an early sign prompts consideration of adrenoleukodystrophy or juvenile globoid cell leukodystrophy and often is part of the clinical picture of MELAS.
Disturbances in ocular motility with gaze initiation failure occur in type 2 Gaucher’s disease and Niemann-Pick disease type C. Supranuclear palsies of conjugate gaze are also a feature of Leigh disease and Huntington’s disease.
Cerebellar ataxia may be noted after the child begins to reach for objects, to sit, and to stand. It may be progressive, as in the sphingolipidoses and in cerebrotendinous xanthomatosis, or episodic, as in the aminoacidopathies and organic acidopathies.
Useful extrapyramidal signs of metabolic disease include:
Among the metabolic diseases that should be considered when these signs occur are:
The involvement of peripheral nerves can assist in making a diagnosis of neurometabolic disease:
A peripheral neuropathy may also occur in:
Reviewed and revised May 2004 by Steven C. Schachter, MD, epilepsy.com Editorial Board.
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