Endoscopic third ventriculostomy for diencephalosynapsis-related hydrocephalus in MPDZ gene syndrome: a case report and review of the literature.
Sergio Cavalheiro, Marcos Devanir Silva da Costa, Fernando Seiji Suzuki et al.
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Case in brief
A female infant with prenatally diagnosed obstructive ventriculomegaly was confirmed to have MPDZ syndrome through whole-exome sequencing. She underwent endoscopic third ventriculostomy (ETV) on day five of life, following fetal MRI that revealed diencephalosynapsis and third ventricle atresia. At 2 years and 5 months, she experienced late stoma occlusion, which was resolved with endoscopic revision. By 4 years and 5 months, she remained free of ventriculoperitoneal shunting and exhibited age-appropriate neurodevelopment.
Diagnostic / clinical pearl
Endoscopic third ventriculostomy can be an effective primary treatment for obstructive hydrocephalus in patients with MPDZ syndrome, potentially reducing the need for lifelong shunt dependency.
Why it matters
This case highlights the importance of individualized patient selection for ETV based on specific anatomical considerations in the context of rare genetic syndromes.