Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature

Abstract

Purpose: We describe our series of 4 patients with megalencephaly-capillary malformation syndrome (MCAP) and review the literature in order to assess the optimal treatment for the associated hydrocephalus.

Methods: We review our institutional series of hydrocephalus associated with MCAP and review the literature, analyzing the causes that could originate the hydrocephalus and the different types of treatments proposed for them.

Results: Of our patients treated with ventriculoperitoneal (VP) shunt, one suffered a surgical revision of the shunt and died due to a cranial trauma unrelated to her syndrome or the previous shunt surgery, and the other did not undergo surgical revisions until the end of her follow-up. Our patients treated with endoscopic third ventriculostomy (ETV) have improved their symptomatology and have not suffered of any complications related to the hydrocephalus after the ETV surgery.

Conclusions: We update the treatment of MCAP-associated hydrocephalus and propose ETV as a valid treatment, as it seems a safe procedure with a low rate of complications.

Keywords: Endoscopic third ventriculostomy (ETV); Hydrocephalus; Macrocephaly-capillary malformation (M-CM); Megalencephaly-capillary malformation (MCAP); Ventriculoperitoneal shunt (VP shunt).