• Journal of Korean Neurosurgical Society
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• 제56권1호
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• pp.61-65
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• 2014

Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement.

• Clinical and Experimental Pediatrics
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• 제57권7호
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• pp.333-336
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• 2014

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5 ), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT ($5.6cm{\times}5.0cm{\times}7.6cm$) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.

• Journal of Genetic Medicine
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• 제14권2호
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• pp.67-70
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• 2017

Down syndrome (DS, trisomy 21) is associated with neuroanatomical abnormalities, including choroid plexus cysts and various types of brain tumors. Trisomy 21 is associated with oncogenic factor, especially in brain tumor. The brain of DS patients had a smaller volume of gray and white matter and an unbalanced cerebellum volume, indicating a smaller volume overall than normal. We report a case of a DS male patient who had an incidentally discovered neuroglial cyst in left cerebellar vermis. He visited our hospital with gait disturbance and fatigue. But, the neurologic exam was normal. To the best of our knowledge, this is the first reported case of a neuroglial cyst in a trisomy 21 patient. As the developmental mechanisms of a cyst and the choroid plexus are related, more research is needed.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.32-36
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• 2016

Joubert syndrome (JS) is characterized by the "molar tooth sign" (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS. Neck MRI showed no definite lesion or mass around the cervical sympathetic chain. His global development was delayed. He underwent ophthalmologic surgery, and showed some improvement in his ptosis. To the best of our knowledge, the association of HS with JS has not yet been described. We suggest that early neuroimaging should be considered for neonates or young infants with diverse eye abnormalities to evaluate the underlying etiology.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.92-96
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• 2020

Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is an autosomal-dominant, extremely rare neurodevelopmental disorder caused by the heterozygous EBF3 gene mutation. EBF3 is located on chromosome 10q26.3 and acts as a transcription factor that regulates neurogenesis and differentiation. This syndrome is characterized by dysmorphism, cerebellar hypoplasia, urogenital anomaly, hypotonia, ataxia, intellectual deficit, and speech delay. The current report describes a 3-year-old Korean male carrying a de novo EBF3 mutation, c.589A>G (p.Asn197Asp), which was identified by whole exome sequencing. He manifested facial dysmorphism, hypotonia, strabismus, vermis hypoplasia, and urogenital anomalies, including vesicoureteral reflux, cryptorchidism, and areflexic bladder. This is the first report of a case of HADDS cause by an EBF3 mutation in the Korean population.

• Journal of Yeungnam Medical Science
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• 제39권1호
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• pp.58-61
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• 2022

Mega cisterna magna (MCM), one of the members of the Dandy-Walker complex, is a developmental malformation of the posterior fossa that is larger than 10 mm but morphologically does not affect the vermis and cerebellar hemispheres. Reports of psychiatric disorders associated with this anomaly are rare. We present the case of a patient with MCM who presented with a psychotic manic attack and was diagnosed with bipolar disorder. A 28-year-old female, single housewife, university graduate, presented with irritability, decreased sleep and appetite, distraction, and agitation. The patient also had a delusion of reference. In the clinical follow-up, an increase in energy and an increase in the amount of speech were observed. Her neurological examination was normal, and cranial magnetic resonance imaging revealed an MCM. The relationship and clinical significance of MCM with psychosis and mood disorders have not yet been fully elucidated. It is not known whether this association is accidental or based on etiological commonality. The purpose of this case report is to review the relationship between the cerebellum and psychiatric symptoms and to contribute to the literature.

• 한국체육학회지인문사회과학편
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• 제58권4호
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• pp.481-492
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• 2019

본 연구는 12주간의 트레드밀 운동이 노화 흰쥐 소뇌의 성상세포 활성과 퍼킨제 세포 발현 및 운동기능 변화에 미치는 영향에 대해 알아보았다. Sprague-Dawley(SD) 흰쥐를 실험처치에 따라 (1)젊은 통제집단 (Young Control Group; YCG; 3months aged; n=10), (2) 노화 통제집단 (Old Control Group; OCG; 24months aged; n=10), (3) 노화 운동집단 (Old Exercise Group; OEG; 24months aged; n=10)으로 구분한 후 OEG는 트레드밀 운동을 시간과 강도를 점증적으로 증가하여 12주간, 주 5회 실시하였다. 실험결과 rota-rod 검사에서 운동기능이 OCG에 비해 OEG에서 증가하는 것으로 나타났으며(p<.05) 그 수준은 YCG와 유사한 것으로 나타났다. calbindin-양성 퍼킨제 세포의 발현도 OCG에 비해 OEG의 소뇌 충부에서 증가하였으며(p<.05), 그 수준은 YCG와 유사하였다. GFAP-, NMDAR-양성세포의 발현도 OEG에서 증가하였다(각각 p<.001). GFAP, GLAST 단백질 수준은 OCG에 비해 OEG에서 증가하였으며(p<.05, p<.001) 그 수준은 YCG와 유사하였다. BDNF, NGF 수준은 YCG에서 가장 높았으며 OCG에 비해 OEG에서 증가하는 것으로 나타났다(p<.001, p<.05). 이상의 결과를 종합하면 규칙적인 운동은 성상세포의 활성을 향상시킬 뿐만 아니라 신경영양인자의 증가를 통하여 소뇌의 퍼킨제 세포 발현과 운동기능을 개선시키는 것으로 판단된다.

• 대한핵의학회지
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• 제31권3호
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• pp.320-329
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• 1997

유아 자폐증 환아에서의 신경 방사선학적 소견은 계속 연구되어 왔으나 이전의 연구에서는 일관된 특징적인 소견을 보여주지 못하였고, 대부분의 연구에서 성인이나 학령기 아동을 대상으로 하였었다. 본 연구는 8세 이전의 환아만을 대상으로 자기공명영상과 뇌혈류 SPECT의 기능적, 해부학적 이상을 알아보고자 하였다. DSM-IV와 CARS의 진단기준을 만족하는 18명의 환아를 대상으로 후향적으로 뇌혈류 SPECT와 자기공명영상 소견을 분석하였다. 환아의 평균연령은 55개월(28-89 개월)이었다. SPECT는 185-370 MBq의 Tc-99m ECD를 정맥주사후 annular crystal 감마카메라를 이용하여 시행하였고 자기공명영상은 1.5 Tesla GE signa machine을 이용하여 T1, T2 axial과 T1 sagittal sequence를 얻었다. 뇌혈류 SPECT 상 13명의 환아에서 국소적인 관류저하가 관찰되었고 각각 소뇌 충부(12/18), 소뇌반구(11/18), 시상(13/18), 기저핵(4/18), 두정엽(7/18), 측두엽(1/18)에서 관류저하 소견을 보였다. 반면 자기공명영상에서는 3명의 환아에서만 이상 소견을 보였는데 각각 뇌실 주변부 백질의 감소(3/18), 뇌량의 간 및 팽대부의 위축(1/18), 소뇌 충부의 용적 감소 (1/18)를 보였다. 뇌혈류 SPECT와 자기공명영상에서 나타난 이상 소견을 비교하여 볼 때 자기공명영상상의 합당한 해부학적 이상 소견이 없음에도 뇌혈류 SPECT에서 더 광범위한 혈류 저하 부위를 보였다. 결론적으로 뇌혈류 SPECT상 광범위한 관류 저하를 소뇌, 시상, 두정엽에서 관찰할 수 있었고, 뇌혈류 SPECT가 자기공명영상에 비하여 유아 자폐증의 병태생리를 반영함에 있어 더 민감한 방법임을 알 수 있었다 하지만 시상이나 두정엽의 관류 저하의 임상적 의미에 관한 더 많은 연구가 필요할 것으로 생각한다.

• 대한두개안면성형외과학회지
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• 제13권1호
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• pp.54-56
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• 2012

Purpose: Dandy-Walker syndrome is a rare congenital brain malformation that occurs one in every 25,000-35,000 live births, mostly in females. It is characterized by cystic enlargement of the fourth ventricle, agenesis or hypogenesis of the cerebellar vermis and enlargement of the posterior fossa. In this report, the authors aimed to address a rare case of a 14-months-old female Dandy-Walker syndrome patient that is presented with submucous cleft palate. Methods: A 14-months-old female patient admitted to our outpatient clinic, via the department of pediatrics, with the complaints of nasal regurgitation, choking and breathing difficulties. She was diagnosed as Dandy-Walker syndrome by magnetic resonance imaging evaluation, at another hospital and underwent a shunt operation for the hydrocephalus continuing treatments. On physical examination, she had structural abnormality of bifid uvula, and palpable notch in the posterior surface of the hard palate. Her submucous cleft palate was corrected, which used a double opposing Z-plasty under general anesthesia. Results: In a follow-up period of 2 months, no complications, such as wound dehiscence, necrosis and infection occurred, which shows satisfactory results. She consulted with pediatric neurologists and physical therapists for further evaluation and management of the abnormalities in the central nervous system. Conclusion: Dandy-Walker syndrome patient with a cleft palate is a very rare case to find, which only a few cases are reported around the world. Authors would like to share this case of Dandy-Walker syndrome patient, with submucous cleft palate, who underwent a double opposing Z-plasty that shows satisfactory results.

• 대한유전성대사질환학회지
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• 제20권1호
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• pp.29-35
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• 2020

쥬버트 증후군(JS, Joubert syndrome)은 대부분 상염색체 열성으로 유전되는 유전성 대사질환으로 임상증상은 신생아 시기부터 발현된다. 저자들은 신생아기부터 특징적인 임상 증상이 순차적으로 발현되어 임상적으로 JS를 의심하였으나 특징적인 뇌 MRI 소견인 molar tooth sign (MTS)이 늦게 나타난 후 전장엑솜분석(WES, whole exome sequencing)으로 확진 된, 말기 신부전을 동반한 JS 1례를 경험하였기에 보고하고자 한다. 14세 남자 환자는 출생 직후 반복적인 무호흡과 과호흡으로 치료받은 병력이 있으며, 생후 8개월때부터 전반적 발달 지연과 관련되어 처음 병원을 방문하여 기본적인 발달 지연에 관한 검사를 시행하였으나 특이 소견 없었고, 이후 15개월 때 근육생검을 포함한 여러 검사를 통해 사립체(mitochondrial) 질환으로 진단 되었었다. 이후 물리 치료만 하며 관찰 하던 중 안구진탕과 망막질환이 확인되었다. 생후 7세 8개월에는 처음 발작이 있었으며, 말기 신부전이 있어 8세부터 혈액투석을 시작한 후, 혈액 투석 직후 수차례 발작이 있었으나 전해질 불균형으로 인한 발작으로 진단하여 항뇌전증 약물 치료는 하지 않았다. 9세 4개월 때 고혈압으로 인한 뇌출혈로 치료 받았으며, 이때 시행한 뇌 CT상 MTS가 처음 의심되었다. 13세 10개월에 시행한 뇌 MRI 검사상 MTS가 명확히 확인되었고, 전장엑솜 분석으로 JS의 CEP290 mutation (c.6012-12T>A)이 확인되었다. 환자는 신생아기부터 발현된 특징적인 임상 소견과 말기 신부전 상태, 뇌 CT 또는 MRI소견, 그리고 전장엑솜분석 검사로 JS로 확진하였다. JS는 임상 양상이 다양할 뿐만 아니라 진단에 중요한 MTS 소견이 초기에 보이지 않더라도, 임상적으로 의심된다면 확진을 위해서 전장엑솜분석을 시행하는 것이 필요하다.