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NEUROLOGY 1990;40:1876
© 1990 American Academy of Neurology

Infantile CNS spongy degeneration-14 cases

Clinical update

G. G. Gascon, MD, P. T. Ozand, MD, A. Mahdi, MD, A. Jamil, MD, A. Haider, MD, J. Brismar, MD and M. Al-Nasser, MD

From King Faisal Specialist Hospital & Research Centre (Drs. Gascon, Ozand, Haider, and Brismar); King Khalid University Hospital (Dr. Mahdi); and Maternity & Children's Hospital (Dr. Jamil), Riyadh; and King Fahad Hospital (Dr. Al-Nasser), Al-Baha, Saudi Arabia.

We studied 14 Arab infants with infantile spongy degeneration, 13 of whom were products of consanguineous marriages. They presented in infancy with macrocephaly, poor visual behavior or blindness, and axial hypotonia with appendicular spasticity. Brain CT and MRI showed diffuse symmetric leukoencephalopathy, even before neurologic symptoms. There were relatively normal EEGs. The visual evoked responses (P100) were either absent or delayed early in the course. The brainstem auditory evoked responses showed milder abnormalities, with loss of later components before the earlier ones. Deficient aspartoacylase activity in cultured fibroblasts or brain biopsy confirmed the diagnosis in all patients.

Address correspondence and reprint requests to Dr. Generoso G. Gascon, Section of Pediatric Neurology, Department of Pediatrics, MBC 58, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354 Riyadh 11211, Saudi Arabia.

Supported in part by a grant (RG # 85-0030) from Sheikh Rafiq Al-Hariri.

Received January 10, 1990. Accepted for publication in final form May 8, 1990.




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