Congenital anomalies such as neural tube defects (NTD), microcephaly, Chiari malformation, premature skull fusion, and syringomyelia are associated with 15-20% of occipital encephaloceles. NTDs are thought to develop as a result of environmental or genetic factors, or a combination of the two, and the onset of encephaloceles in siblings is uncommon. We present a case study of occipital encephalocele with hydrocephalus and syringomyelia in a patient with a sibling-onset encephalocele. A newborn girl with an occipital encephalocele is the patient. Her sister was born with an occipital encephalocele as well. Prenatal ultrasound confirmed both frontal bone depression and posterior cervical mass at 27 weeks pregnant. At 32 weeks pregnant, fetal magnetic resonance imaging revealed a posterior cervical encephalocele. The neural tissue had escaped from the cranium. It also revealed the herniation of the hindbrain. Syringomyelia was discovered between the lower cervical cord and the thoraco-lumbar spinal cord junction. At 38 weeks pregnant, the baby was delivered via scheduled cesarean section. A 4 cm diameter mass was discovered in the midline suboccipital to upper cervical vertebrae. She was diagnosed with syringomyelia and an occipital encephalocele. On the first day of her life, the child underwent encephalocele repair surgery. On the ninth day, however, the patient required another repair surgery for a cerebrospinal fluid leak. Following that, the encephalocele vanished and the syringomyelia improved, but the child required a VP shunt for progressive hydrocephalus at 3 months of age. The mechanisms of progressive hydrocephalus in a child with occipital encephalocele will be discussed. Hyperthermia, genetic background, maternal nutritional deficiency, aflatoxin, and other environmental factors are all risk factors for encephalocele. Concerning genetic factors, the incidence of NTDs among siblings is only about 2-5%, and there are still many unknowns in the encephalocele of genetic factors. Hydrocephalus has been reported in 60-90% of patients with occipital encephalocele, with 63% developing hydrocephalus after surgery. The causes of hydrocephalus include stenosis or torsion of the cerebrospinal fluid tract and venous sinus obstruction. After the encephalocele was repaired, subcutaneous fluid retention, which was thought to be CSF leak, was also observed. In this case, we can say that the changes in cerebrospinal fluid circulation and infection caused the hydrocephalus. In contrast to children with an encephalocele that did not have hydrocephalus or brain tissue, the presence of hydrocephalus resulted in a worse prognosis. We will keep a close eye on her future development.
"},{"@language":"ja","@value":"症例は0生日女児．妊娠27週に前頭骨の変形と後頚部腫瘤を指摘された．32週の胎児Magnetic Resonance Imaging（MRI）で後頚部脳瘤を認め，38週に予定帝王切開で出生した．後頚部に長径4 cmの腫瘤を認め，MRIで腫瘤内に頭蓋内から逸脱した組織を認めたことから後頭部脳瘤と診断した．1生日に脳瘤修復術，9生日に髄液漏修復術を施行した．さらに術後3か月後に水頭症に対して脳室-腹腔シャント術を施行した．同胞の姉も脳瘤にて手術歴がある．同胞間脳瘤発症例は少なく，多彩な奇形を呈する本例はまれである．今回，同胞間発症と水頭症併発の2点に着目して考察を加える．
"}],"abstractLicenseFlag":"disallow"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1410860919505617408","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Kuroki Shinichi"},{"@language":"ja","@value":"黒木 伸一"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University"},{"@language":"ja","@value":"鹿児島大学大学院医歯学総合研究科脳神経外科"}]},{"@id":"https://cir.nii.ac.jp/crid/1410860919505617413","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Oyoshi Tatsuki"},{"@language":"ja","@value":"大吉 達樹"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"鹿児島市立病院脳神経外科"},{"@language":"en","@value":"Department of Neurosurgery, Kagoshima City Hospital"}]},{"@id":"https://cir.nii.ac.jp/crid/1410860919505617409","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Higa Nayuta"},{"@language":"ja","@value":"比嘉 那優大"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University"},{"@language":"ja","@value":"鹿児島大学大学院医歯学総合研究科脳神経外科"}]},{"@id":"https://cir.nii.ac.jp/crid/1410860919505617412","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Sato Masanori"},{"@language":"ja","@value":"佐藤 雅紀"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"鹿児島市立病院脳神経外科"},{"@language":"en","@value":"Department of Neurosurgery, Kagoshima City Hospital"}]},{"@id":"https://cir.nii.ac.jp/crid/1410860919505617415","@type":"Researcher","foaf:name":[{"@language":"ja","@value":"駒柵 宗一郎"},{"@language":"en","@value":"Komasaku Soichiro"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Neurosurgery, Kagoshima City Hospital"},{"@language":"ja","@value":"鹿児島市立病院脳神経外科"}]},{"@id":"https://cir.nii.ac.jp/crid/1410860919505617410","@type":"Researcher","foaf:name":[{"@language":"ja","@value":"時村 洋"},{"@language":"en","@value":"Tokimura Hiroshi"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Neurosurgery, Kagoshima City Hospital"},{"@language":"ja","@value":"鹿児島市立病院脳神経外科"}]},{"@id":"https://cir.nii.ac.jp/crid/1410860919505617414","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Yoshimoto Koji"},{"@language":"ja","@value":"吉本 幸司"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"鹿児島大学大学院医歯学総合研究科脳神経外科"},{"@language":"en","@value":"Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University"},{"@language":"ja","@value":"九州大学大学院医学研究院脳神経外科"},{"@language":"en","@value":"Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University"}]},{"@id":"https://cir.nii.ac.jp/crid/1410860919505617411","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Hanaya Ryosuke"},{"@language":"ja","@value":"花谷 亮典"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University"},{"@language":"ja","@value":"鹿児島大学大学院医歯学総合研究科脳神経外科"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"03878023"},{"@type":"EISSN","@value":"2435824X"}],"prism:publicationName":[{"@language":"en","@value":"Nervous System in Children"},{"@language":"ja","@value":"小児の脳神経"},{"@language":"en","@value":"Nervous System in Children"},{"@language":"ja","@value":"小児の脳神経"}],"dc:publisher":[{"@language":"en","@value":"The Japanese Society for Pediatric Neurosurgery"},{"@language":"ja","@value":"一般社団法人 日本小児神経外科学会"}],"prism:publicationDate":"2023","prism:volume":"48","prism:number":"3","prism:startingPage":"290","prism:endingPage":"294"},"url":[{"@id":"https://search.jamas.or.jp/link/ui/2024152361"}],"availableAt":"2023","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=encephalocele","dc:title":"encephalocele"},{"@id":"https://cir.nii.ac.jp/all?q=sibling","dc:title":"sibling"},{"@id":"https://cir.nii.ac.jp/all?q=hydrocephalus","dc:title":"hydrocephalus"},{"@id":"https://cir.nii.ac.jp/all?q=encephalocele","dc:title":"encephalocele"},{"@id":"https://cir.nii.ac.jp/all?q=sibling","dc:title":"sibling"},{"@id":"https://cir.nii.ac.jp/all?q=hydrocephalus","dc:title":"hydrocephalus"}],"dataSourceIdentifier":[{"@type":"JALC","@value":"oai:japanlinkcenter.org:2011929900"}]}