• Journal of Korean Neurosurgical Society
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• 제59권3호
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• pp.187-191
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• 2016

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

• Archives of Plastic Surgery
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• 제38권5호
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• pp.683-686
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• 2011

Purpose: Craniosynostosis of three or more cranial sutures was not common. "Mercedes Benz pattern," named by Moore1 was a rare form of craniosynostosis and had an atypical pattern of premature closure of cranial suture. It was not reported in Republic of Korea. We report this case with literature review. Methods: A 13-months-old male patient visited our clinic due to exophthalmos. He showed normal developmental course. Other neurological tests were normal but he was Crouzon syndrome patient. CT scans showed bilateral lambdoid and posterior sagittal sutures were fused and the length of the skull was extended. Cranioplasty with pi craniotomy & Barrel-Stave osteotomy and recombination of the bone flap was performed. Results: The patient was discharged after post operative 10 days without any complications. In follow up visit after 2.7 years, he was in good state without recurrence and functional abnormality of skull. Conclusion: This was the first case of Mercedes Benz pattern craniosynostosis with Crouzon syndrome in Korea. This type of craniosynostosis has to be considered differently from single type of craniosynostosis or typical syndromic craniosynostosis clinically and surgically.

• Journal of Korean Neurosurgical Society
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• 제30권12호
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• pp.1417-1421
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• 2001

Objective : The purposes of this study are to compare imaging features with operative findings and to determine significance of imaging studies for early detection of craniosynostosis(CS). Methods : Plain radiograph of skull and three-dimensional(3D) CT reconstruction were analyzed in 10 consecutive patients with CS to assess the presence and the extent of synostosis. The radiological findings were investigated and compared with operative findings. Results : The locations of lesion were coronal suture in 6, sagittal suture in 3 and multiple sutures in one patient, and the age ranged 1 to 53 months(mean age : 17.4 months). Reconstructive procedures with or without advancement of supraorbital rim were performed in coronal CS patients and ${\pi}$-procedures or synostectomy were done in sagittal CS patients. Radi-ological abnormalities such as sutural indistinctness or sclerosis, bony ridge, bossing and other bony deformities were nearly consistent with surgical findings. Conclusion : The interpretation of imaging study are very important for early detection of craniosynostosis, especially, the plain radiographs of skull. Also 3D CT imaging is helpful in diagnosis and surgical planing of craniosynostosis. There are no significant differences between imaging features and operative findings in CS patients.

• Journal of Korean Neurosurgical Society
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• 제59권3호
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• pp.204-213
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• 2016

Syndromic craniosynostosis has severe cranial stenosis and deformity, combined with hypoplastic maxillary bone and other developmental skeletal lesions. Among these various lesions, upper air way obstruction by hypoplastic maxillary bone could be the first life-threatening condition after birth. Aggressive cranial vault expansion for severely deformed cranial vaults due to multiple synostoses is necessary even in infancy, to normalize the intracranial pressure. Fronto-orbital advancement (FOA) is recommended for patients with hypoplastic anterior part of cranium induced by bicoronal and/or metopic synostoses, and posterior cranial vault expansion is recommended for those with flattening of the posterior part of the cranium by lambdoid synostosis. Although sufficient spontaneous reshaping of the cranium can be expected by expansive cranioplasty, keeping the cranial bone flap expanded sufficiently is often difficult when the initial expansion is performed during infancy. So far distraction osteogenesis (DO) is the only method to make it possible and to provide low rates of re-expansion of the cranial vault. DO is quite beneficial for both FOA and posterior cranial vault expansion, compared with the conventional methods. Associated hydrocephalus and chronic tonsillar herniation due to lambdoid synostosis can be surgically treatable. Abnormal venous drainages from the intracranial space and air way obstruction should be always considered at any surgical procedures. Neurosurgeons have to know well about the managements not only of the deformed cranial vault and the associated brain lesions but also of other multiple skeletal lesions associated with syndromic craniosynostosis, to improve treatment outcome.

• 대한두개안면성형외과학회지
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• 제21권2호
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• pp.80-86
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• 2020

Positional plagiocephaly is increasing in infants. Positional plagiocephaly is an asymmetric deformation of skull due to various reasons; first birth, assisted labor, multiple pregnancy, prematurity, congenital muscular torticollis and position of head. Positional plagiocephaly can mostly be diagnosed clinically and by physical examinations. The simplest way to assess the severity of plagiocephaly is to use a diagonal caliper during physical examination, which measures the difference between the diagonal lengths on each side of the head. Plagiocephaly can be treated surgically or conservatively. Positional plagiocephaly, which is not accompanied by craniosynostosis, is treated conservatively. Conservative treatments involve a variety of treatments, such as change of positions, physiotherapy, massage therapy, and helmet therapy. Systematic approaches to clinical examination, diagnosis and treatment of positional plagiocephaly can be necessary and the age-appropriate treatment is recommended for patients with positional plagiocephaly.

• Journal of Korean Neurosurgical Society
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• 제62권3호
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• pp.336-343
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• 2019

Epilepsy surgery revealed dramatically improved seizure outcomes over medical therapy in drug-resistant epilepsy patients. Children with epilepsy, however, have multiple epileptic focuses which require multilobar resection for better seizure outcome. Multilobar resection has not only the several severe surgical complications, such as hydrocephalus and shunt-related craniosynostosis, due to intracranial volume reduction. Isolation method (disconnection surgery) was progressively studied over epileptic focus removal (resective surgery) for seizure control. This concept was first introduced for functional hemispherotomy, and its primary principle is to preserve the vital vascularized brain that is functionally disconnected from the contralateral healthy brain. Currently in most epilepsy centers, the predominant disconnection surgical methods, including functional hemispherotomy, are continually being refined and are showing excellent results. They allow the functional isolation of the hemisphere or multi-lobe, affected by severe epilepsy. This review describes recent findings concerning the indication, surgical technique, seizure outcome and complications in several disconnection surgeries including the functional hemispherotomy for refractory pediatric epilepsy.

• 대한소아치과학회지
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• 제30권1호
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• pp.171-180
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• 2003

두개골의 성장은 뇌의 발달과 밀접하게 연관되어 있으며, 두개봉합부 주위 여러 조직들사이의 조화로운 상호작용을 필요로 한다. 두개골의 조기융합으로 알려진 craniosynostosis는 이러한 상호작용의 불균형으로 인해 야기될 수 있으며, craniosynostosis의 원인 유전자의 하나로 Msx2가 알려져 있다. Msx1, Msx2, Msx3로 구성되어 있는 Msx 유전자는 homeobox를 포함하고 있는 전사조절인자로, 초파리의 muscle segment homeobox 유전자의 homologue이다. Msx1과 Msx2 유전자들은 척추동물의 발생과정에서 조직 상호작용하는 여러 부위에 서로 겹치는 양상으로 발현되며 기관형성동안 상피-간엽조직 상호작용과 연관되어 나타나고, BMP와 FGF signaling의 표적 유전자들이다. Mouse 두개골의 시상봉합부와 관상봉합부의 초기 형태발생과정에서의 Msx 유전자들의 기능을 알아보기위해, 태생 15일에서 태생 18일까지의 mouse의 두개골을 이용하여 in vivo 실험을, 태생 15.5일 mouse 두개골을 이용하여 in vitro 실험을 시행하였다. 시상두개봉합부에서는, Msx1은 봉합부의 간엽조직과 dura mater에 발현하였으며 Msx2는 두개봉합부와 dura mater에 강하게 발현되었다. 관상두개봉합부에서는 Msx1, Msx2 유전자 모두 강하게 발현되었으며, 골막에서도 관찰할 수 있었고, Msx1이 Msx2보다 좀더 광범위하게 발현되었다. In vitro 실험결과, BMP2 bead 주위로 Msx1 mRNA와 Msx2 mRNA 모두 발현되었으나, FGF2 bead 주위로는 Msx1만 발현되고 Msx2는 관찰되지 않았다. 이 결과들을 종합해 볼 때, Msx1, Msx2 유전자들은 태생기 두개봉합부의 형태발생 및 유지를 조절하는데 중요하며, Msx 유전자들은 거의 유사한 발현양상을 나타내고 있으나 이들 유전자들을 조절하는 상위 siganling에 의해 서로 보완적으로 혹은 독립적으로 기능을 나타내고 있음을 시사해 주고 있다.