التفاصيل البيبلوغرافية
| العنوان: |
GM1 gangliosidosis: Case report |
| المؤلفون: |
Obradović Slobodan, Laban Olivera, Igrutinović Zoran, Vuletić Biljana, Vujić Ana, Đinđić Jasmina |
| سنة النشر: |
2010 |
| المجموعة: |
doiSerbia (National Library of Serbia / KoBSON) |
| مصطلحات موضوعية: |
Gangliosidosis, GM1, beta-Galactosidase, Signs and Symptoms, Diagnosis, Genetic Diseases, Inborn, Lysosomal Storage Diseases |
| الوصف: |
Introduction. Gangliosidoses occur due to inhereted deficiency of human β - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions. Case report. We present a patient with an early, infintile type of GM1 gangliosidosis. The facial features were coarse: hypertelorismus, wide nose, depressed nasal bridge with lingual protrusion. From the very first months of life she had severe generalized hypotonic, delayed development and hapatosplenomegaly. Before she died, when she was 13 months old, she had not had any spontaneus movements, she was deaf and blind, dispnoic, with apnoiccrises, with amimic face, but without seizures and decerebrate rigidity, which often accompanies the terminal stage of this illness. Conclusion. The absence of β-galaktosidase enzyme activaty at the skin fibroblasts confirmed the definitive diagnosis. There has been no successful treatment so far, but increasingly better results of the gene therapy for other lysosomal storage disorders can make us optimistic. |
| نوع الوثيقة: |
other/unknown material |
| اللغة: |
unknown |
| العلاقة: |
http://dx.doi.org/10.2298/MPNS1006427OTest |
| DOI: |
10.2298/MPNS1006427O |
| الإتاحة: |
https://doi.org/10.2298/MPNS1006427OTest |
| رقم الانضمام: |
edsbas.21EA584 |
| قاعدة البيانات: |
BASE |
