engleski

A child with generalised hypotonia: and unusual variant of GM1 gangliosidosis

We describe a girl diagnosed with GM1 gangliosidosis based on clinical characteristics, and biochemical findings typical for the disease – a low level of beta-galactosidase in the leukocytes and increased excretion of urinary oligosaharides and keratane sulphate. Slight dysmorphic features and laryngeal stridor were already present at birth. At the age of 13 days she was hospitalized for pneumonia, followed by numerous respiratory infections in the subsequent months. Extreme hypotonia was noted, which is in contrast to the rigospasticity typical for the disease. She showed marked psychomotor delay. A CT-scan revealed significantly widened subarachnoidal spaces and ventricles. At the age of 11 months, lumbar kyphoscoliosis and hepatosplenomegaly were observed. She died at the age of 18 months due to the cardiomyopathy and cardiorespiratory failure.

GM1 gangliosidosis; generalised hypotonia

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