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Abstract：
BACKGROUND: We present a unique case of monozygotic female twins with virtually identical clinical and radiological presentations of supratentorial hydrocephalus and cystic formations from the suprasellar cistern.
CONCLUSIONS: Evaluating genetic predispositions and prenatal exposures is crucial for hydrocephalus in twins. Familial cases imply a genetic contribution to the development of these anomalies, including chromosomal abnormalities and specific variants linked to arachnoid cyst formation in various syndromes. Extensive genetic analyses found no pathogenic variants in the twins. Prenatal exposure to anti-epileptic medication was known during pregnancy and may be associated with fetal abnormalities, but not central nervous system (CNS) malformations, and was therefore not considered the cause of the condition in the twins. The twins presenting simultaneously with hydrocephalus caused by suprasellar cysts (SAC) underwent a two-step surgical management: initial ventriculoperitoneal shunt (VPS) placement followed by fenestration. Postoperative imaging showed cyst reduction, but a secondary VPS was necessary in both cases.
CONCLUSIONS: Genetic analysis is less likely to identify a monogenic etiology in non-syndromic cases of SACs, which are assumed to be multifactorial. There is no established evidence linking a teratogenic effect of anti-epileptic drugs to CNS malformations. Moreover, the surgical treatment of this complex condition constitutes a point of discussion.
CONCLUSIONS: Evaluating genetic predispositions and prenatal exposures is crucial for hydrocephalus in twins. Familial cases imply a genetic contribution to the development of these anomalies, including chromosomal abnormalities and specific variants linked to arachnoid cyst formation in various syndromes. Extensive genetic analyses found no pathogenic variants in the twins. Prenatal exposure to anti-epileptic medication was known during pregnancy and may be associated with fetal abnormalities, but not central nervous system (CNS) malformations, and was therefore not considered the cause of the condition in the twins. The twins presenting simultaneously with hydrocephalus caused by suprasellar cysts (SAC) underwent a two-step surgical management: initial ventriculoperitoneal shunt (VPS) placement followed by fenestration. Postoperative imaging showed cyst reduction, but a secondary VPS was necessary in both cases.
CONCLUSIONS: Genetic analysis is less likely to identify a monogenic etiology in non-syndromic cases of SACs, which are assumed to be multifactorial. There is no established evidence linking a teratogenic effect of anti-epileptic drugs to CNS malformations. Moreover, the surgical treatment of this complex condition constitutes a point of discussion.
摘要：
背景：我们介绍了一个独特的单卵女性双胞胎病例，其临床和放射学表现几乎相同，为幕上脑积水和鞍上池囊性形成。
结论：评估遗传易感性和产前暴露对双胞胎脑积水至关重要。家族性病例意味着遗传对这些异常的发展有贡献，包括染色体异常和与各种综合征中蛛网膜囊肿形成相关的特定变异。广泛的遗传分析发现双胞胎中没有致病变异。怀孕期间已知产前暴露于抗癫痫药物，可能与胎儿异常有关。但不是中枢神经系统（CNS）畸形，因此不被认为是双胞胎病情的原因。由鞍上囊肿（SAC）引起的同时出现脑积水的双胞胎接受了两步手术治疗：最初的脑室-腹膜分流术（VPS）放置，然后开窗。术后影像学显示囊肿减少，但在这两种情况下都需要进行二次VPS。
结论：在非综合征性SAC病例中，遗传分析不太可能确定单基因病因，它们被认为是多因素的。没有确定的证据将抗癫痫药物的致畸作用与CNS畸形联系起来。此外，这种复杂情况的手术治疗构成了讨论的重点。
结论：评估遗传易感性和产前暴露对双胞胎脑积水至关重要。家族性病例意味着遗传对这些异常的发展有贡献，包括染色体异常和与各种综合征中蛛网膜囊肿形成相关的特定变异。广泛的遗传分析发现双胞胎中没有致病变异。怀孕期间已知产前暴露于抗癫痫药物，可能与胎儿异常有关。但不是中枢神经系统（CNS）畸形，因此不被认为是双胞胎病情的原因。由鞍上囊肿（SAC）引起的同时出现脑积水的双胞胎接受了两步手术治疗：最初的脑室-腹膜分流术（VPS）放置，然后开窗。术后影像学显示囊肿减少，但在这两种情况下都需要进行二次VPS。
结论：在非综合征性SAC病例中，遗传分析不太可能确定单基因病因，它们被认为是多因素的。没有确定的证据将抗癫痫药物的致畸作用与CNS畸形联系起来。此外，这种复杂情况的手术治疗构成了讨论的重点。
