Bayat Allan, Kirchhoff Maria, Madsen Camilla Gøbel, Kreiborg Sven
Department of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark.
Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Denmark.
Eur J Med Genet. 2018 Aug;61(8):473-477. doi: 10.1016/j.ejmg.2018.03.009. Epub 2018 Mar 27.
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.
我们报告了一名患有9p缺失综合征的小男孩的临床和神经放射学检查结果，包括丘脑梗死、生发基质出血和新生儿高胰岛素血症性低血糖等新发现。该患者出现的低血糖事件和脑室扩大此前仅在另外两名患者中报道过，而丘脑梗死和生发基质出血则是新特征。
