Division of Neurosurgery, Department of Surgery, Medical School, Federal University of Goiás, 1a Avenida, S/N - Setor Leste Universitário, Goiânia, Goiás, Brazil.
Department of Radiology, Medical School, Federal University of Goiás, Goiânia, Goiás, Brazil.
Childs Nerv Syst. 2021 Oct;37(10):3257-3260. doi: 10.1007/s00381-020-04989-6. Epub 2021 Jan 6.
Tectocerebellar dysraphia (TCD) is a rare sporadic malformation associated with severe neurodevelopmental morbidity and high infant mortality. The presence of other ciliopathies worsens the prognosis. Joubert syndrome (JS) is a ciliopathy associated with gene mutations, consisting of midbrain and cerebellum malformations, markedly lack fiber decussation at the level of the pontomesencephalic junction.
We report the case of a child who was born term with occipital encephalocele (OE), diagnosed with TCD and JS spectrum through computed tomography (CT), magnetic resonance (MR), diffuse tensor imaging (DTI), and clinical findings. She had the OE surgically corrected after spontaneous rupture on the second day after delivery. She developed postoperative ventriculitis, meningitis, and hydrocephalus, successfully treated with intravenous antibiotics and cysto-ventriculostomy, cysto-cisternostomy, third ventriculostomy, and choroid plexus coagulation. G-band karyotyping showed 47, XXX, in all analyzed cells (trisomy X). The infant was followed up for 18 months, presenting, so far, a relatively good outcome.
This is the first case reported in the literature of the association of TCD/OE/JS spectrum (JSS) with trisomy X (XXX).
脑桥小脑发育不良（TCD）是一种罕见的散发性畸形，与严重的神经发育发病率和高婴儿死亡率有关。其他纤毛病的存在会使预后恶化。Joubert 综合征（JS）是一种与基因突变相关的纤毛病，包括中脑和小脑畸形，明显缺乏桥脑被盖交界处的纤维交叉。
我们报告了一例足月出生的患儿，患有枕部脑膨出（OE），通过计算机断层扫描（CT）、磁共振（MR）、弥散张量成像（DTI）和临床发现，诊断为 TCD 和 JS 谱系。她在出生后第二天发生自发性破裂后，接受了 OE 的手术矫正。她术后并发了脑室炎、脑膜炎和脑积水，经静脉抗生素治疗和脑室造口术、脑室-蛛网膜下腔造口术、第三脑室造口术和脉络丛凝固术成功治愈。G 带核型分析显示所有分析细胞均为 47，XXX（X 三体）。该婴儿随访了 18 个月，目前表现出相对较好的结果。
这是首例 TCD/OE/JS 谱系（JSS）与 X 三体（XXX）相关的病例报告。
