症はみられなかった．姉妹のうち， 9 p- 症候群と遺伝学
的に診断した本症例及び同胞第 3 子のみに高インスリン
性低血糖症がみられ，本姉妹例の先天性高インスリン性
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2009．
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えられた．9p- 症候群に先天性高インスリン血症の合併し
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た報告は稀で，これまでに11例の報告がされている ．
features of the 9p deletion syndrome. Childs Nerv Syst‚
4）
このうち，本例のように 9 p- 症候群の兄弟例でともに先
32：327-335‚ 2016.
天性高インスリン性低血糖症を呈した症例が 1 例報告さ
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型であることを支持するものと考えられた．
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また， 9 p- 症候群に伴う高インスリン性低血糖症は，
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ジアゾキシド反応性が良好である可能性が示唆された．
of the critical genomic region for congenital
本姉妹例では，先天性高インスリン性低血糖症の治療の
hyperinsulinism in the Chromosome 9p deletion
ためにジアゾキシドを投与し，それぞれ加療への反応は
syndrome. Wellcome Open Res‚ 4：149‚ 2020.
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practice guidelines for congenital hyperinsulinism. Clin
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に対する反応は良く，日齢 2 からジアゾキシド 5 mg/kg/
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日で開始し7．5mg/kg/ 日まで増量して血糖は安定した．日
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齢52までに漸減中止し，その後に低血糖はみられなかっ
Metab‚ 101：815-826‚ 2016.
19
松 澤 崇，他
Abstract
A SIBLING CASE OF CHROMOSOME 9P- DELETION
SYNDROME WITH CONGENITAL HYPERINSULINEMIC
HYPOGLYCEMIA
Takashi MATSUZAWA 1 ）, Hiromasa WAKITA 1 ）, Genki EHARA 2 ）, Kota AO 1 ）
1）
Department of Pediatrics, Yamato municipal Hospital
2）
Department of Neonatology, Kanagawa Children’s Medical Center
A female 22-day-old infant, the fourth child born to the parents, was born by emergency cesarean section because
of non-reassuring fetal status at 37 weeks and 5 days of gestation, with a birth weight of 2487 g. The infant presented
with hypoglycemia that persisted after birth and that co-presented with high serum insulin levels; therefore, the
infant was diagnosed with congenital hyperinsulinemic hypoglycemia. Diazoxide was started at the age of 8 days
and terminated at age 18 days, following the confirmation of an improvement in hypoglycemia, and the infant was
transferred to our hospital at age 22 days. However, hypoglycemia was observed again after the cessation of
diazoxide, and therefore diazoxide was resumed from the age of 33 days. Following the stabilization of blood
glucose, diazoxide was terminated at age 62 days, and hypoglycemia was not observed thereafter. The infant's
sibling, the third child born to the parents, was diagnosed with chromosome 9p deletion syndrome. Congenital
hyperinsulinemic hypoglycemia was also observed in this child and treatment with diazoxide was very effective.
Because the facial features and clinical course of the infant were similar to those of the sibling, genetic testing was
performed and the infant was genetically diagnosed with chromosome 9p deletion syndrome. Therefore, congenital
hyperinsulinemic hypoglycemia may be one of clinical signs of chromosome 9p syndrome. Moreover, we conclude
that hyperinsulinemic hypoglycemia associated with chromosome 9p syndrome may have good responsiveness to
diazoxide.
20
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