title: Congenital myotonic dystrophy: ventriculomegaly and shunt considerations for the pediatric neurosurgeon.
abstract: OBJECTIVE
  Ventriculomegaly in infants with congenital myotonic dystrophy (CDM) is common, and the neurosurgical determination of shunting is complex. The natural history of CDM-associated ventriculomegaly from prenatal to natal to postnatal stages is poorly known. The relationship between macrocephaly and ventriculomegaly, incidence of shunt necessity, and early mortality outcomes lack pooled data analysis. This study aims to review clinical features and pathophysiology of CDM, with emphasis on ventriculomegaly progression, ventriculomegaly association with macrocephaly, and incidence of shunting.
  
  
  METHODS
  This is a literature review with pooled data analysis and case report.
  
  
  RESULTS
  One hundred four CDM patients were reviewed in 13 articles that mentioned CDM with ventriculomegaly and/or head circumference. Data was very limited: only 7 patients had data on the presence or absence of prenatal ventriculomegaly, 97 on ventriculomegaly at birth, and 32 on whether or not the ventricles enlarged post-natally. Three patients of 7 (43 %) had pre-natally diagnosed ventriculomegaly, 43 of 97 (44 %) had ventriculomegaly at birth, and only 5 of 32 (16 %) had progressive enlargement of ventricles post-natally. Only 5 of 104 patients had a documented shunt placement: 1 for obstructive, 1 for a post-hemorrhagic communicating, 2 for a communicating hydrocephalus without hemorrhage, and 1 with unknown indication. Of 13 macrocephalic patients with data about ventricular size, 12 had ventriculomegaly.
  
  
  CONCLUSIONS
  Ventriculomegaly occurs regularly with CDM but most often does not require CSF diversion. Decisions regarding neurosurgical intervention will necessarily be based on limited information, but shunting should only occur once dynamic data confirms hydrocephalus.
authors.affiliation: Division of Pediatric Neurosurgery, Norton Neuroscience Institute and Kosair Children's Hospital, 210 East Gray St., Suite 1102, Louisville, KY, 40202, USA. ianmutchnick@gmail.com.
authors.forename: Ian S
authors.identifier: http://orcid.org/0000-0001-6207-4230
authors.initials: IS
authors.lastname: Mutchnick
authors.affiliation: Department of Neurosurgery, University of Louisville Hospital, Louisville, KY, USA.
authors.forename: Meena A
authors.initials: MA
authors.lastname: Thatikunta
authors.affiliation: Division of Pediatric Neurosurgery, Norton Neuroscience Institute and Kosair Children's Hospital, 210 East Gray St., Suite 1102, Louisville, KY, 40202, USA.
authors.forename: William C
authors.initials: WC
authors.lastname: Gump
authors.affiliation: Department of Pediatrics, Neonatology, University of Louisville School of Medicine, Kosair Children's Hospital, Louisville, KY, USA.
authors.forename: Dan L
authors.initials: DL
authors.lastname: Stewart
authors.affiliation: Division of Pediatric Neurosurgery, Norton Neuroscience Institute and Kosair Children's Hospital, 210 East Gray St., Suite 1102, Louisville, KY, 40202, USA.
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Moriarty
mesh_terms: D002557:Cerebrospinal Fluid Shunts / Q000379:methods*; D006801:Humans; D006849:Hydrocephalus / Q000150:complications* / Q000601:surgery*; D009223:Myotonic Dystrophy / Q000150:complications* / Q000235:genetics / Q000601:surgery*; D010372:Pediatrics
keywords: Genetic; Hydrocephalus; Macrocephaly; Neonatal