University of Alberta, Alberta, Canada.
University of Nam Can Tho, Can Tho, Vietnam.
J Med Case Rep. 2024 Feb 13;18(1):90. doi: 10.1186/s13256-024-04361-1.
Chiari malformation is one of the most common Central nervous system (CNS) abnormalities that can be detected in routine fetal scanning. Chiari malformation type I (CMI) is a congenital defect characterized by a displacement of the cerebellar tonsils through the foramen magnum. The etiology of CMI has not been well established and suggested having multifactorial contributions, especially genetic deletion. Clinical characteristics of this anomaly may express in different symptoms from neurological dysfunction and/or skeletal abnormalities in the later age, but it is rarely reported in pregnancy.
We present a case in which the Chiari malformation type I was diagnosed with comorbidities of facial anomalies (flatting forehead and micrognathia) and muscular-skeletal dysmorphologies (clenched hands and clubfeet) at the 24 weeks of gestation in a 29-year-old Vietnamese pregnant woman. The couple refused an amniocentesis, and the pregnancy was followed up every 4 weeks until a spontaneous delivery occurred at 38 weeks. The newborn had a severe asphyxia and seizures at birth required to have an emergency resuscitation at delivery. He is currently being treated in the intensive neonatal care unit. He carries the novel heterozygous NFIA gene mutation confirmed after birth. No further postnatal malformation detected.
CMI may only represent with facial abnormalities and muscle-skeletal malformations at the early stage of pregnancy, which may also alert an adverse outcome. A novel heterozygous NFIA gene mutation identified after birth helps to confirm prenatal diagnosis of CMI and to provide an appropriate consultation.
Chiari 畸形是最常见的中枢神经系统（CNS）异常之一，可在常规胎儿扫描中检测到。Chiari 畸形 I 型（CMI）是一种先天性缺陷，其特征是小脑扁桃体通过枕骨大孔移位。CMI 的病因尚未得到很好的确立，并提示有多因素的贡献，特别是遗传缺失。这种异常的临床特征可能在以后的年龄表现为神经功能障碍和/或骨骼异常的不同症状，但在妊娠中很少报道。
我们报告了一例 Chiari 畸形 I 型病例，在 29 岁越南孕妇妊娠 24 周时，并发面部异常（扁平额头和小下颌）和肌肉骨骼发育不良（紧握双手和足内翻）。夫妇拒绝羊膜穿刺术，妊娠每 4 周随访一次，直到 38 周自然分娩。新生儿出生时严重窒息和抽搐，需要在分娩时进行紧急复苏。他目前正在新生儿重症监护室接受治疗。他携带出生后确认的新型杂合 NFIA 基因突变。未发现进一步的产后畸形。
CMI 仅在妊娠早期表现为面部异常和肌肉骨骼畸形，这也可能提示不良结局。出生后鉴定出的新型杂合 NFIA 基因突变有助于确认产前诊断 CMI，并提供适当的咨询。
