Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome
| Autor: | Sven Kreiborg, Camilla Gøbel Madsen, Maria Kirchhoff, Allan Bayat |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Pathology medicine.medical_specialty Neonatal hyperinsulinemic hypoglycemia Thalamic infarction Chromosome Disorders 030105 genetics & heredity 03 medical and health sciences 0302 clinical medicine Hyperinsulinism Genetics Medicine Humans Deletion syndrome Abnormalities Multiple Genetics (clinical) business.industry Infant General Medicine medicine.disease Hypoglycemia Germinal matrix haemorrhage Chromosome Deletion business Chromosomes Human Pair 9 030217 neurology & neurosurgery Ventriculomegaly |
| Zdroj: | European journal of medical genetics. 61(8) |
| ISSN: | 1878-0849 |
| Popis: | We report the clinical and neuroradiological findings in a young boy harboring the 9p deletion syndrome including the novel findings of thalamic infarction and germinal matrix haemorrhage and neonatal hyperinsulinemic hypoglycemia. Both the hypoglycemic events and the ventriculomegaly found in this patient have previously only been reported in two patients, while the thalamic infarction and germinal matrix haemorrhage are novel features. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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