The adult manifestation of GM1-Gangliosidosis – a case report

Introduction: The GM1-gangliosidosis is a lysosomal storage disease caused by a defect of beta galactosidase. Due to the enzyme defect, an accumulation of GM1 gangliosid occurs preferably in the central nervous system (CNS). Whereas the disease manifestation is typically seen in childhood, there are only few case reports of adult manifestation.

Casuistics: We present the clinical course of a 47-years-old woman with an adult onset of GM1 gangliosidosis. In early 2009 the patient came with suspected stroke. She showed symptoms of a central paresis of the left leg. Medical history revealed a complete regredient brachiofacial hemiparesis during 2008. Now, over the last months a progressive left side spastic hemiparesis, hemiataxia, occular palsy and cognitive disturbances developed. Cerebrospinal fluid and laboratory analysis, especially coagulation screening and vasculitis diagnostics were unremarkable. Cranial MRI showed a symetric T2w hyperintense pyramidal tract sign and progredient fronto-parietal white matter lesions. Because of a potential lysosomal storage disease, we examined the corresponding enzymes and detected the absence of beta-galactosidase.

Conclusion: In case of patients with primary or secondary chronic progressive neurological deficits with missing signs of chronic inflammatory CNS-disease activity or ischemic lesions, a storage disease should be considered.