Department of Neonatology, KK Women's & Children's Hospital, Singapore, Singapore.
Department of Paediatrics, Genetics Service, KK Women's & Children's Hospital, Singapore, Singapore.
Pediatr Pulmonol. 2022 Jul;57(7):1826-1829. doi: 10.1002/ppul.25966. Epub 2022 May 21.
HIDEA (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy and eye abnormalities) syndrome is a rare and novel disease. We describe a premature patient who required extensive work up for his hypoventilation with a diagnosis of HIDEA syndrome.
The patient was born to a pair of consanguineous parents at 32-week gestation. His intermittent bradypnoea requiring significant respiratory support during his postnatal clinical course was atypical for bronchopulmonary dysplasia and this required further extensive work up to look for a cause for his hypoventilation. A trio whole exon sequencing was done which identified homozygous variants in P4HTM, in keeping with the diagnosis of autosomal recessive HIDEA syndrome. He is currently doing well on BiPAP 18 cm H2O / 8 cm H2O, Rate 30 breaths per minute in room air and full nasogastric feeding. He also has cortical blindess and severe global developmental delay.
Early diagnosis is crucial to optimise adequate ventilatory management including early tracheostomy as many require lifelong continuous or intermittent ventilation. This minimises the complications of chronic hypoxia and reduces mortality risk.
HIDEA（低张力、通气不足、智力障碍、自主神经功能障碍、癫痫和眼部异常）综合征是一种罕见的新型疾病。我们描述了一名早产儿，因通气不足进行了广泛检查，最终诊断为 HIDEA 综合征。
患儿胎龄 32 周时经近亲父母顺产出生。他间歇性呼吸过缓，需要在出生后的临床过程中接受大量呼吸支持，这与支气管肺发育不良的情况不同，因此需要进一步进行广泛检查以寻找通气不足的原因。进行 trio 全外显子测序，发现 P4HTM 纯合变异，符合常染色体隐性遗传 HIDEA 综合征的诊断。目前，他使用 BiPAP（双水平气道正压通气）18cmH2O/8cmH2O、频率 30 次/分钟、空气条件下经鼻胃管全量喂养，情况良好。他还患有皮质盲和严重的全面发育迟缓。
早期诊断对于优化充足的通气管理至关重要，包括早期气管切开术，因为许多患者需要终身持续或间歇性通气。这可以最大限度地减少慢性缺氧的并发症，降低死亡率风险。
