Rethinking the role of endoscopic third ventriculostomy in the treatment of hydrocephalus in achondroplasia

The treatment of hydrocephalus in achondroplasia, a genetic disorder characterized by abnormal bone growth, has traditionally relied on ventriculoperitoneal (VP) shunting. However, emerging evidence challenges the notion that hydrocephalus in achondroplasia is of the communicating type, instead suggesting a triventricular configuration. This has led to a re-evaluation of treatment approaches, with endoscopic third ventriculostomy (ETV) gaining attention as a potential alternative. A case-based review of an 8-month-old child with achondroplasia and hydrocephalus treated successfully with ETV is presented. The review explores the literature supporting ETV as a successful mode of cerebrospinal fluid (CSF) diversion in children with achondroplasia and hydrocephalus. The pathophysiology of hydrocephalus in achondroplasia emphasizes the importance of distinguishing between clinically significant hydrocephalus and compensated hydrocephalus. Diagnostic modalities, such as magnetic resonance imaging with CSF flow studies, help in accurate assessment. In addition, the limitations of VP shunting, including high revision rates, are addressed. Based on the available literature and the presented case study, ETV emerges as a potential treatment option with favorable outcomes in achondroplasia patients with hydrocephalus. However, further research and prospective clinical trials are needed to establish the definitive efficacy and safety of ETV in this specific population.