Bilateral arachnoid cysts of the sylvian region in female siblings with glutaric aciduria type I : report of two cases

• Published in: Journal of neurosurgery Vol. 82; no. 6; pp. 1078 - 1081
• Main Authors: JAMJOOM, Z. A. B, OKAMOTO, E, JAMJOOM, A.-H. B, AL-HAJERY, O, ABDULLAH ABU-MELHA
• Format: Journal Article
• Language: English
• Published: Park Ridge, IL American Association of Neurological Surgeons 01-06-1995
• Subjects: Arachnoid Cysts - complications; Arachnoid Cysts - diagnostic imaging; Arachnoid Cysts - genetics; Biological and medical sciences; Cerebral Aqueduct - diagnostic imaging; Cerebral Aqueduct - surgery; Child; Child, Preschool; Drainage; Errors of metabolism; Female; Glutarates - urine; Humans; Medical sciences; Metabolic diseases; Miscellaneous hereditary metabolic disorders; Tomography, X-Ray Computed; Human; Nervous system diseases; Aciduria; Metabolic diseases; Bilateral; Sibling; Arachnoid; Cerebral disorder; Genetic disease; Case study; Symptomatology; Glutaric acid; Central nervous system disease; Cyst; Female; Benign neoplasm; Child; Aminoacid disorder
• ISSN: 0022-3085; 1933-0693
• DOI: 10.3171/jns.1995.82.6.1078

Two sisters, aged 6 and 2 1/2 years, presented with macrocephaly and delayed motor development and were found on computerized tomography to have bilateral arachnoid cysts of the sylvian region. Cystoperitoneal shunting of the larger cysts resulted in considerable neurological improvement in both children. Subsequent screening of the patients' urine for organic acids showed that the two sisters were suffering from glutaric aciduria type I (GA-I). To the best of the authors' knowledge, this is the first report to provide clear radiological and surgical evidence of the association between GA-I and bilateral arachnoid cysts of the sylvian region. The role of the shunting procedure used in these cases is discussed.