Endoscopic Third Ventriculostomy with Choroid Plexus Coagulation for Treatment of Hydrocephalus in X-linked Myotubular Myopathy: A Novel Approach

摘要

X-linked myotubular myopathy (XLMTM) is a rare x-linked disease. It manifests?in male new-borns with multiple comorbidities including severe hypotonia, absent deep-tendon reflexes, and respiratory weakness leading to ventilator dependence. The affected individuals usually die in early infancy but some individuals have survived into the second decade of life.?Macrocephaly and hydrocephalus are common in XLMTM with some reporting it in up to 70% and 50% of cases, respectively.?Hydrocephalus is usually communicating in nature and may require surgical intervention if it is progressive.?Prior cases have also used ventriculoperitoneal shunts as the primary hydrocephalus treatment modality.?Here we have described a case of treating XLMTM associated communicating hydrocephalus via endoscopic third ventriculostomy with choroid plexus coagulation. A 23-month-old male with XLMTM presented with macrocephaly and hydrocephalus.?Previous cases of hydrocephalus in XLMTM were treated with the placement of a ventriculoperitoneal shunt. However,?in this case, it was contraindicated due to extensive multisystem?comorbities which restricted treatment options.?Due to the lack of another feasible compartment for the placement of the cerebrospinal fluid (CSF) diversion, it was decided that an endoscopic third ventriculostomy with choroid plexus coagulation?will be performed.?During the patient’s postoperative course, his head circumference stabilized at 50 cm and serial brain imaging indicated the decreasing size of the ventricular system.?He also became more awake and interactive.?His family withdrew care when he was 33-months-old, due to complications not related to the neurosurgery procedure. This case was the first time endoscopic third ventriculostomy with choroid plexus coagulation was successfully performed for the treatment of hydrocephalus in X-linked myotubular myopathy.