Extensive Mongolian spots as a clue in GM1 gangliosidosis: Report of two cases
| Autor: | Renu P. Kurup, Amith Kumar Iv, Sheela Nampoothiri, Sunitha Vaidyanathan |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Pregnancy
Pathology medicine.medical_specialty business.industry Coarse facial features GM1 Gangliosidosis Hepatosplenomegaly Prenatal diagnosis medicine.disease Pediatrics Perinatology and Child Health Cardiac valve cardiovascular system Medicine Neurology (clinical) Global developmental delay medicine.symptom business Mongolian spots |
| Zdroj: | Journal of Pediatric Neurology. :411-414 |
| ISSN: | 1875-9041 1304-2580 |
| Popis: | Two unrelated infants who presented with global developmental delay, coarse facial features, and cardiac valve involvement were evaluated. Presence of extensive Mongolian spots along with hepatosplenomegaly and cardiac valvular involvement helped to narrow down the diagnosis as beta-galactosidase deficiency. The parents could be offered prenatal diagnosis in future pregnancy. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|