BACKGROUND & AIMS:
:Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is occasionally associated with hyperinsulinemic hypoglycemia (HH) in the neonatal period. Sotos syndrome (SS) and Kabuki syndrome (KS) are other malformation syndromes that may be complicated with HH, however, the detailed clinical characteristics of HH accompanied with these syndromes remain unclear. We herein conducted a nationwide questionnaire survey in Japan. We sent a primary questionnaire concerning the clinical experience for these syndromes to 347 perinatal care institutions. As a result, 222 departments or hospitals returned the questionnaires and the total numbers of BWS, SS, and KS patients were 113, 88, and 51, respectively. We sent a secondary questionnaire to 31 institutions where patients with these syndromes presented with HH during infancy. The secondary questionnaires were returned from the institutions and the numbers of patients were 16 for BWS, 9 for SS, and 3 for KS, respectively. Then, we compared the clinical characteristics of infants suffering from transient HH with and without these dysmorphic syndromes. As a result, BWS, SS, and KS patients showed significantly larger body size, lower Apgar scores, higher insulin levels at HH, and shorter durations of HH than non-dysmorphic infants with transient HH. We propose that a careful observation for the signs of HH, even if not specific to the syndromes, is important for the diagnosis of patients with BWS, SS, and KS in the postnatal period. © 2016 Wiley Periodicals, Inc.
背景与目标:
:Beckwith-Wiedemann综合征(BWS)是一种先天性过度生长综合征,在新生儿期有时与高胰岛素血症性低血糖症(HH)相关。 Sotos综合征(SS)和Kabuki综合征(KS)是可能与HH并发的其他畸形综合征,但是,尚不清楚HH伴有这些综合征的详细临床特征。在此,我们在日本进行了全国范围的问卷调查。我们向347个围产期护理机构发送了有关这些综合征临床经验的主要问卷。结果,有222个部门或医院返回了问卷,BWS,SS和KS患者的总数分别为113、88和51。我们向31所机构中的这些综合症患者在婴儿期出现HH的情况下发送了第二份调查表。从机构返回的二次调查表中,BWS的患者人数分别为16名,SS的患者人数为9名,KS的患者人数为3名。然后,我们比较了患有和不患有这些畸形综合征的短暂性HH婴儿的临床特征。结果,与短暂性HH的非畸形婴儿相比,BWS,SS和KS患者显示出明显更大的体型,更低的Apgar评分,更高的HH胰岛素水平和更短的HH持续时间。我们建议,仔细观察HH的体征,即使不是特定于该综合征,对于产后BWS,SS和KS患者的诊断也很重要。 ©2016 Wiley Periodicals,Inc.