• Journal of Korean Neurosurgical Society
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• v.56 no.1
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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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• v.57 no.7
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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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• v.14 no.2
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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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• v.59 no.sup1
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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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• v.17 no.2
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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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• v.39 no.1
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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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• v.58 no.4
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• pp.481-492
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• 2019

The purpose of this study was to investigate the effects of treadmill exercise on cerebellar astrocyte activation and purkinje cells, neurotrophic factors expression, and motor function in aged rats. Sprague-Dawley (SD) rats were used and divided into three groups; (1) Young Control Group (YCG; 3months aged, n=10); (2) Old Control Group; (OCG; 24months aged, n=10); (3) Old Exercise Group (OEG; 24months aged, n=10). Rats were then subjected to treadmill exercise for 5 days per week for 12 weeks during which time the speed of the treadmill was gradually increased. The results revealed that in the rota-rod test, motor function was significantly increased in the OEG compared to the OCG (p<.05), and similarly YCG. Number of calbindin-positive purkinje cell expression significantly increased in the cerebellar vermis of OEG compared to the OCG (p<.05), and similarly YCG. GFAP-, NMDAR-positive cell expression significantly increased in the OEG (respectively p<.001), GFAP and GLAST protein levels were significantly increased in the cerebellum of OEG compared to the OCG (p<.05, p<.001) and similarly YCG. BDNF and NGF protein levels were highest in the YCG, increased in the OEG compared to OCG (p<.001, p<.05). These result show that regular exercise not only improved astrocyte activation, but also increased purkinje cell expression in the cerebellum and motor function by increasing the neurotrophic factors in aged rats.

• The Korean Journal of Nuclear Medicine
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• v.31 no.3
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• pp.320-329
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• 1997

Neuroanatomic substrate of autism has been the subjects of continuing investigation. Because previous studies had not demonstrated consistent and specific neuroimaging findings in autism and most studies comprised adults and school-aged children, we performed a retrospective review in search of common functional and anatomical abnormalities with brain SPECT using Tc-99m ECD and correlative MRI The patient population was composed of 18 children aged 28 to 89 months(mean age : 55 months) who met the diagnostic criteria of autism as defined in the DSM-IV and CARS. Brain SPECT was performed after intravenous injection of 185-370MBq of Tc-99m ECD using brain dedicated annular crystal gamma camera. MRI was performed in all patients including T1, T2 axial and T1 sagittal sequences. SPECT data were visually assessed. Thirteen patients had abnormal SPECT scan revealing focal areas of decreased perfusion. Decreased perfusion of cerebellar vermis(12/18), cerebellar hemisphere(11/18), thalami(13/18), basal ganglia(4/18), posterior parietal(7/18), and temporal(4/18) area were noted on brain SPECT. Whereas, only 3 patients had abnormal MR findings which were subtle volume loss of parieto-occipital white matter in 3 and mild thinning of posterior body of corpus callosum in 2 and slightly decreased volume of cerebellar vermis in 1. Comparison of the numbers of abnormal findings revealed that regional cerebral blood flow (rCBF) abnormalities seen on SPECT were more numerous than anatomical abnormalities seen on MRI. In conclusion, extensive perfusion impairment involving cerebellum, thalami and parietal lobe were found in this study. SPECT may be more sensitive in reflecting pathophysiology of autism than MRI. However, further studies are mandatory to determine the significance of thalamic and parietal perfusion impairment in autism.

• Archives of Craniofacial Surgery
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• v.13 no.1
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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.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.