A child with generalised hypotonia: and unusual variant of GM1 gangliosidosis (CROSBI ID 502167)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa
Podaci o odgovornosti
Barišić, Ingeborg ; Tokić, Višnja ; Petković, Giorgie ; Fumić, Ksenija
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 gangliosidodis; generalised hypotonia
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
32-33-x.
2004.
objavljeno
Podaci o matičnoj publikaciji
Abstracts. 8th International Symposium on Mucopolysaccharide and Related Diseases. New therapeutic strategies - what can we hopefully expect?
Mainz:
Podaci o skupu
8th International Symposium on Mucopolysaccharide and Related Diseases. New therapeutic strategies - what can we hopefully expect?
poster
10.06.2004-13.06.2004
Mainz, Njemačka