Introduction

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.

Case report

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.

Conclusion

This is the first case reported in the literature of the association of TCD/OE/JS spectrum (JSS) with trisomy X (XXX).

中文翻译：

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X三体相关的Tectocerebellar营养不良和枕部脑膨出：病例报告和文献复习

介绍

Tectocerebellardysraphia (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相关。其他纤毛病的存在使预后恶化。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，脑桥中脑连接处明显缺乏纤维交叉。

案例报告

我们报告了一个出生时患有枕部脑膨出 (OE) 的婴儿的病例，通过计算机断层扫描 (CT)、磁共振 (MR)、弥散张量成像 (DTI) 和临床发现诊断出患有 TCD 和 JS 谱。她在分娩后第二天自发性破裂后手术矫正了 OE。她出现术后脑室炎、脑膜炎和脑积水，通过静脉注射抗生素和膀胱脑室造口术、膀胱脑池造口术、第三脑室造口术和脉络丛凝固术成功治疗。G 带核型分析在所有分析的细胞（X 三体）中显示 47, XXX。对婴儿进行了 18 个月的随访，到目前为止，结果相对较好。

结论

这是文献中报道的 TCD/OE/JS 谱 (JSS) 与 X 三体 (XXX) 关联的首例病例。