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Magnetic Resonance Imaging Findings and Novel Mutations in GM1 Gangliosidosis

Department of Paediatrics, United Arab Emirates University and Tawam Hospital, Al Ain, UAE, gururaja{at}uaeu.ac.ae.

László Sztriha, MD, PhD, DSc

Department of Paediatrics, United Arab Emirates University and Tawam Hospital, Al Ain, UAE

Josef Hertecant, MD

Department of Paediatrics, United Arab Emirates University and Tawam Hospital, Al Ain, UAE

Johan G. Johansen, MD, PhD

Department of Radiology, Faculty of Medicine and Health Sciences, United Arab Emirates University and Tawam Hospital, Al Ain, UAE

Theodoros Georgiou, PhD

Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

Yvan Campos, MD

Department of Genetics and Tumour Cell Biology, St. Jude Children's Research Hospital, Memphis, TN

Anthi Drousiotou, PhD

Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

Alessandra d'Azzo, PhD

Department of Genetics and Tumour Cell Biology, St. Jude Children's Research Hospital, Memphis, TN

Two unrelated children and their siblings of Arab origin were diagnosed as having G_M1 gangliosidosis on the basis of clinical features and markedly low levels of ß-galactosidase. The T₂-weighted magnetic resonance images of the brain revealed certain characteristic features, including delayed myelination and abnormal appearance of the subcortical white matter, internal capsule, and basal ganglia. Their mutation analysis showed two novel mutations, which have not been described in an Arabic population. (J Child Neurol 2005;20:57—60).

Journal of Child Neurology, Vol. 20, No. 1, 57-60 (2005)
DOI: 10.1177/08830738050200010901


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