关键词: SIDS congenital disorders genetic screening / counselling neonatal intensive care pediatrics

Mesh : Humans Gastroesophageal Reflux / diagnosis complications Infant, Newborn Sotos Syndrome / diagnosis complications Male Female Muscle Hypotonia / etiology diagnosis

来  源:   DOI:10.1136/bcr-2024-261325

Abstract:
Sotos syndrome is a disorder characterised by distinctive facial features, excessive growth during childhood and intellectual disability. While these criteria apply to children and adults, they fall short when applied to neonates. Hyperbilirubinaemia, large for gestational age, hypotonia and seizures, along with cardiac and renal anomalies, are known to be common presentations in neonates. Reports have also added hyperinsulinaemic hypoglycaemia as a presenting feature of Sotos syndrome in neonates. Here, we report a case of Sotos syndrome in a neonate who presented in the neonatal period with recurrent apnoeic episodes with hypotonia, which were later attributed to severe gastro-oesophageal reflux.
摘要:
Sotos综合征是一种以独特的面部特征为特征的疾病,儿童时期的过度生长和智力残疾。虽然这些标准适用于儿童和成人,当应用于新生儿时,它们就不够了。高胆红素血症,大的胎龄,张力减退和癫痫发作,伴随着心脏和肾脏的异常,已知是新生儿的常见表现。报道还增加了高胰岛素血症性低血糖作为新生儿Sotos综合征的表现特征。这里,我们报告了一例Sotos综合征的新生儿,该新生儿在新生儿期出现反复的呼吸暂停发作伴张力减退,后来归因于严重的胃食管反流。
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