Jun Watanabe1, Kouichirou Okamoto2, Tsukasa Ohashi3, Manabu Natsumeda4, Hitoshi Hasegawa4, Makoto Oishi4, Satoko Miyatake5, Naomichi Matsumoto5, Yukihiko Fujii4. 1. Department of Neurosurgery, Brain Research Institute, Niigata University, Niigata, Japan. Electronic address: jwatanabe@bri.niigata-u.ac.jp. 2. Department of Translational Research, Brain Research Institute, Niigata University, Niigata, Japan. 3. Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. 4. Department of Neurosurgery, Brain Research Institute, Niigata University, Niigata, Japan. 5. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
Abstract
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: 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: 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.
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: 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: 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.
Authors: Nayara M Pereira; Luiz A Vieira Netto; Luís Felipe A Peres; Alice J Zaccariotti; Lígia G Ribeiro; Paulo Ronaldo Jubé Ribeiro Journal: Childs Nerv Syst Date: 2021-08-14 Impact factor: 1.532
Authors: Yasser Alsayed Tolibah; Chaza Kouchaji; Thuraya Lazkani; Mohammad Tamer Abbara; Saffana Jbara; Ziad D Baghdadi Journal: Int J Environ Res Public Health Date: 2021-01-29 Impact factor: 3.390