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A Study of Two Boys Presumably Suffering From Lysosomal Disease

Jacobus L. Willemse, MD; Johan G. van Dorssen, MD; Gerrit de Haas, MD; Lydia F. Blikkendaal-Lieftinck, MD; Willem Straks, MD; Gerard E. J. Staal, PhD; Loti E. A. Kits van Waveren, MD

Arch Neurol. 1978;35(9):603-607.

Abstract
• Two unrelated boys, 12 and 9 years old, suffered from a diffuse cerebral disease that followed a parallel, subacute course. Mental regression, loss of hearing and vision, spastic-ataxic and pseudobulbar disturbances, and atrophy of the optic nerves occurred in both. Enzyme studies and the liver biopsy of one of the patients suggest a "lysosomal disease." The hallmark of both patients is the striking similarity of the cerebral scintigraphy and the computerized axial tomography (CT). Cerebral scintigraphy showed annular and crescent-shaped areas of increased radioactivity in the parietooccipital region. The CT indicated bilateral, symmetric bands of elevated density after contrast enhancement in the paraventricular white matter in the same region. These findings and the neurologic symptoms are compatible with leukodystrophy. Thus cerebral scintigraphy and CT appear to be useful aids in the diagnosis of metabolic brain disease. Computerized axial tomography is preferred for distinguishing whether lesions are in white or gray matter.

Author Affiliations
From the Departments of Child Neurology (Dr Willemse) and Neurosurgery (Dr van Waveren), State University, Utrecht, and the Institutes of Nuclear Medicine (Dr de Haas) and Pathology (Drs Blikkendaal-Lieftinck and Straks), State University, Utrecht; the Unit of Medical Enzymology, University Hospital, Utrecht (Dr Staal); and the Department of Radiology, Ursula Clinics, Wassenaar, The Netherlands (Dr van Dorssen).

Footnotes
Accepted for publication Sept 6, 1977.

Reprint requests to Department of Child Neurology, Academisch Ziekenhuis, Utrecht, The Netherlands (Dr Willemse).

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