Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation.
Collagen Type IV
/ genetics
Dantrolene
/ therapeutic use
Fluid Therapy
/ methods
Germ-Line Mutation
/ genetics
Humans
Hydrocephalus
/ drug therapy
Infant
Male
Malignant Hyperthermia
/ etiology
Muscle Relaxants, Central
/ therapeutic use
Postoperative Complications
/ etiology
Schizencephaly
/ genetics
Sinus Thrombosis, Intracranial
/ drug therapy
Ventriculoperitoneal Shunt
/ adverse effects
COL4A1
Cerebral venous thrombosis
Malignant hyperthermia
Schizencephaly
Ventriculoperitoneal shunt
Journal
World neurosurgery
ISSN: 1878-8769
Titre abrégé: World Neurosurg
Pays: United States
ID NLM: 101528275
Informations de publication
Date de publication:
Jul 2019
Jul 2019
Historique:
received:
21
02
2019
revised:
16
04
2019
accepted:
17
04
2019
pubmed:
29
4
2019
medline:
21
1
2020
entrez:
29
4
2019
Statut:
ppublish
Résumé
Schizencephaly is a rare congenital central nervous system malformation characterized by linear, thickened clefts of the cerebral mantle. Recently, germline mutations in collagen type IV alpha 1 (COL4A1) have been reported to be a genetic cause of schizencephaly as a result of prenatal stroke. Patients with COL4A1 mutation demonstrate a variety of disease phenotypes. However, little is known about the potential complications of patients with COL4A1 mutations before and after neurologic surgery. A 9-month-old boy with schizencephaly and a congenital cataract underwent a ventriculoperitoneal shunt for progressive hydrocephalus. Postoperatively, he developed malignant hyperthermia and cerebral venous thrombosis. Early treatment with dantrolene sodium and hydration was effective. Genetic testing revealed a germline COL4A1 mutation. To our knowledge, malignant hyperthermia and cerebral venous thrombosis have not been reported in the literature in patients with COL4A1 mutations after surgery. Schizencephaly arising from COL4A1 mutations might be a disease prone to these adverse effects because this mutation is known to be associated with venous tortuosity, venous vulnerability, and muscle spasms due to basement membrane protein abnormalities. We need to better understand the wide spectrum of clinical phenotypes of COL4A1 mutations and potential complications in order to better manage surgery of patients with schizencephaly.
Sections du résumé
BACKGROUND
BACKGROUND
Schizencephaly is a rare congenital central nervous system malformation characterized by linear, thickened clefts of the cerebral mantle. Recently, germline mutations in collagen type IV alpha 1 (COL4A1) have been reported to be a genetic cause of schizencephaly as a result of prenatal stroke. Patients with COL4A1 mutation demonstrate a variety of disease phenotypes. However, little is known about the potential complications of patients with COL4A1 mutations before and after neurologic surgery.
CASE DESCRIPTION
METHODS
A 9-month-old boy with schizencephaly and a congenital cataract underwent a ventriculoperitoneal shunt for progressive hydrocephalus. Postoperatively, he developed malignant hyperthermia and cerebral venous thrombosis. Early treatment with dantrolene sodium and hydration was effective. Genetic testing revealed a germline COL4A1 mutation.
CONCLUSIONS
CONCLUSIONS
To our knowledge, malignant hyperthermia and cerebral venous thrombosis have not been reported in the literature in patients with COL4A1 mutations after surgery. Schizencephaly arising from COL4A1 mutations might be a disease prone to these adverse effects because this mutation is known to be associated with venous tortuosity, venous vulnerability, and muscle spasms due to basement membrane protein abnormalities. We need to better understand the wide spectrum of clinical phenotypes of COL4A1 mutations and potential complications in order to better manage surgery of patients with schizencephaly.
Identifiants
pubmed: 31029817
pii: S1878-8750(19)31151-9
doi: 10.1016/j.wneu.2019.04.156
pii:
doi:
Substances chimiques
COL4A1 protein, human
0
Collagen Type IV
0
Muscle Relaxants, Central
0
Dantrolene
F64QU97QCR
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
446-450Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.