Chronic GM1 Gangliosidosis Presenting as Dystonia: Clinical and Biochemical Studies in a New Case

N. Nardocci; Barbara Bertagnolio; Viviana Rumi; Marialuisa Combi; Patrizia Bardelli; Lucia Angelini

doi:10.1055/s-2008-1071535

Neuropediatrics, Inhaltsverzeichnis

Neuropediatrics 1993; 24(3): 164-166
DOI: 10.1055/s-2008-1071535

Short communication

Chronic GM1 Gangliosidosis Presenting as Dystonia: Clinical and Biochemical Studies in a New Case

N. Nardocci¹ , Barbara Bertagnolio² , Viviana Rumi¹ , Marialuisa Combi¹ , Patrizia Bardelli¹ , Lucia Angelini¹

¹Department of Child Neurology, Istituto Nazionale Neurologico "C. Besta", Milano, Italy
²Department of Biochemistry and Genetics of Nervous System, Istituto Nazionale Neurologico "C. Besta", Milano, Italy

Abstract

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Abstract

Clinical and biochemical findings in a patient affected by chronic GM1 gangliosidosis, presenting as progressive dystonia and mental deterioration, are reported. The patient, a 13-year-old male, showed, at the age of 3 years, an impairment of gait with frequent falls, dysarthria and stuttering. At the age of 6, writing dystonia appeared and subsequently mental deterioration and dystonic postures of arms and legs became evident. The clinical features presented by this patient are similar to those shown by the cases of adult/chronic GM1 gangliosidosis previously reported, except for the early onset. This observation emphasizes the occurrence of dystonia as prominent symptom in chronic GM1 gangliosidosis, underlining that this disease must be considered in the diagnostic approach to the progressive dystonias of the early infancy.

Key words

Chronic GM1 - Gangliosidosis - Dystonia

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