Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report.

Abstract

The authors report a case of neuronal ceroid lipofuscinosis (Kufs' disease) confirmed by stereotactically obtained brain biopsy findings and initially diagnosed as a butterfly glioma. The presenting symptoms in the 64-year-old patient were mental alterations with progressive dementia, followed by muscular atrophy and myoclonia with distal preponderance. The mild initial disturbances of coordination increased, and the patient developed a markedly ataxic gait. Computerized tomography (CT) scanning and magnetic resonance imaging revealed generalized cerebral atrophy and a bifrontal space-occupying lesion involving the callosum. The original "clearcut" diagnosis of glioblastoma multiforme, based on CT scans, was unexpectedly disproved by examination of stereotactically obtained brain biopsy specimens, which revealed a neuronal ceroid lipofuscinosis (Kufs' disease). To the authors' knowledge, this is the first report of a case presenting with both diffuse brain atrophy and localized accumulation of neuronal lipofuscin, mimicking a mass lesion on radiological studies.

• Authors: S Hammersen, M Brock, J Cervós-Navarro
• Journal: Journal of neurosurgery (J Neurosurg) Vol. 88 Issue 2 Pg. 314-8 (Feb 1998) ISSN: 0022-3085 [Print] United States
• PMID: 9452242 (Publication Type: Case Reports, Journal Article)

Topics

• Atrophy
• Biopsy
• Brain (diagnostic imaging, pathology)
• Brain Neoplasms (diagnosis)
• Diagnosis, Differential
• Female
• Glioblastoma (diagnosis)
• Humans
• Magnetic Resonance Imaging
• Middle Aged
• Neuronal Ceroid-Lipofuscinoses (diagnosis)
• Tomography, X-Ray Computed