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

Autori
Barišić, Ingeborg ; Tokić, Višnja ; Petković, Giorgie ; Fumić, Ksenija

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Zbornik sažetaka postera znanstvenih novaka izlaganih u inozemstvu 2002., 2003. i 2004. godine - II. dio - biomedicinske, društvene i humanističke znanosti / - Zagreb : Ministarstvo znanosti, obrazovanja i sporta Republike Hrvatske, 2004, P-513

Skup
Prvi kongres hrvatskih znanstvenika iz domovine i inozemstva

Mjesto i datum
Vukovar, Hrvatska; Zagreb, Hrvatska, 15.11.2004. - 19.11.2004

Vrsta sudjelovanja
Ostalo

Vrsta recenzije
Nije recenziran

Ključne riječi
GM1 gangliosidosis; generalised hypotonia

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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