• 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.

• 대한한방부인과학회지
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• 제31권2호
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• pp.31-48
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• 2018

Objectives: This study was performed to observe the correlations between the results of ABR-2000 and DSOM / 3D-MAC to evaluate the feasibility of ABR-2000 as a oriental medical diagnostic criteria. Methods: We studied 547 women visiting ${\bigcirc}{\bigcirc}$ hospital from December 2012 to June 2015. The subjects were categorized in two groups, 'Hypotonia' and 'Non-Hypotonia' by the result of ABR-2000 and assessed the result of DSOM, 3D-MAC for each group. The differences of pulse wave factors by group also studied. Results: 1. There was no significant difference between two groups about the output frequency of pathogenic factors in DSOM while the result showed the higher correlation in Hypotonia group in terms of the companion tendency of pathogenic factors and syndromes formed by the combination of pathogenic factors. 2. The pulse waves of Hypotonia group were mostly slow, weak, tense and stiff than Non-Hypotonia group. Conclusions: 1. In Hypotonia group, yin deficiency (陰虛) factor was frequently accompanied and consumption (虛損) of various organs based on the yin deficiency (陰虛) was observed. It means chronic and severe condition of exhaustion syndrome (虛勞). 2. The result of 3D-MAC also means pathological feature of yin syndrome (陰 證) and consumption (虛損). Besides, lower scores of Body Surface Area (BSA), body weight, and Body Mass Index (BMI) were associated with body weakness (體瘦), a symptom of exhaustion syndrome (虛勞).

• 대한유전성대사질환학회지
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• 제2권1호
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• pp.15-19
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• 2002

Disorders resulting from defects in peroxisomal biogenesis include Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. The three diseases are now considered as a continuum of clinical features. Neonatal adrenoleukodystrophy is intermediate between Zellweger syndrome and infantile Refsum disease in severity, and is characterized by profound hypotonia, intractable seizures and premature death. We report a cases of neonatal adrenoleukodystrophy presenting with neonatal seizure and hypotonia. At the age of 43 months, she had clinical evidence of adrenal insufficiency with skin hyperpigmentation and electrolyte imbalance. She was diagnosed having neonatal adrenoleukodystrophy based on abnormally high levels of plasma very long-chain fatty acids, pipecolic acid and phytanic acid.

• 대한소아신경학회지
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• 제26권4호
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• pp.189-196
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• 2018

목적: 늘어지는 영아 증후군은 중추신경계 이상, 말초 신경계 이상 혹은 둘 모두의 이상으로 발생할 수 있다. 늘어지는 영아에서 원인을 진단하는 것은 환아의 치료와 발달 예후를 결정하는 중요한 요소로 현재까지 다양한 진단 알고리듬이 제안되고 있다. 본 논문에서는 늘어지는 영아 증후군의 원인에 대한 새로운 분류 및 증상 발현 시기에 따른 원인, 그리고 이들의 발달 예후에 대해 연구하였다. 방법: 2005년부터 2016년까지 세브란스병원에 내원한 늘어지는 영아들을 대상으로 EMR 차트를 후향적으로 분석하여 진단 및 임상적 특징을 분석하였고 환아들의 발달에 대해 보호자에게 일대일 전화인터뷰를 통해 조사하였다. 결과: 전체 116명의 환아 중에 원인에 대한 확진을 받은 경우가 69명으로 전체 진단율이 59.5%이었고 이들 중 Prader-Willi syndrome, myotonic dystrophy, spinal muscular atrophy가 가장 흔한 진단이었다. 전 연령대에 걸쳐 Prader-willi syndrome이 가장 흔한 진단이었고 특히 1개월 미만 증상 발현군에서는 Prader-willi syndrome, myotonic dystrophy, early infantile epileptic encephalopathy가 흔한 3가지의 진단이었다. 발달 예후 면에서 원인군 중 combined hypotonia에서 전 영역에 걸쳐 가장 나쁜 예후를 보였다. 결론: 현재까지의 논문과 본 논문에서의 늘어지는 영아 증후군에 대한 진단율은 유사했고 각 연령에 따른 흔한 진단에 대해서도 알아보았다. 발달 예후가 가장 나쁜 combined hypotonia군에 속하는 진단으로 확진되거나 의심되는 경우 초기 진단시부터 발달에 대해 체계적이고 단계적인 추적관찰이 필요하다.

• Clinical and Experimental Pediatrics
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• 제58권8호
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• pp.313-316
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• 2015

Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with frontal bossing, flat nasal bridge, microretrognathia with normal palate and uvula, thin upper lip in an inverted V-shape, a midline sacral dimple, severe calcanovalgus at admission, and severe global developmental delay at 18 months of age. Fluorescence in situ hybridization findings confirmed that the deleted regions contained at least 15q22. The chromosome analysis revealed a karyotype of 46,XY,del(15) (q22q23). Parental chromosome analysis was performed and results were normal. After reviewing the limited literature on interstitial 15q deletions, we believe that the presented case is the first description of mapping of an interstitial deletion involving the chromosome 15q22q23 segment in Korea. This report adds to the knowledge of the clinical phenotype associated with the 15q22q23 deletion.

• Clinical and Experimental Pediatrics
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• 제46권1호
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• pp.83-85
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• 2003

저자는 재태연령 30주, 출생체중 1,100 g의 미숙아에서 출생시 양안의 무안구증, 극심한 처짐, 양안 격리증, 낮은 코, 짧은 목, 저이개, 소악증, 양측성 뇌수종, 양손의 simian line이 관찰되었기에 시행한 임파구 배양 검사상 46, XX, del(6)(p23)의 소견을 보여 이탈점이 6p23으로 판명된 terminal deletion 6p23, 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.44-47
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• 2021

Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of the brain. This is a genetic disorder, autosomal recessive or X linked, characterized by intellectual disability, speech and language delay, epilepsy, hypotonia, etc. Until recently very few number of cases have been reported. Here we report a case of 1.5-year-old boy who had epilepsy (epileptic spasm and generalized tonic clonic seizure), intellectual disability, microcephaly, hypotonia and speech delay. His magnetic resonance imaging of brain showed cortical atrophy and electroencephalography showed burst suppression pattern. The diagnosis was confirmed by clinical exome sequencing which showed novel mutation of SLC6A8+ in exon 9, suggestive of X linked recessive CCDS. The patient was then treated with glycine, L-arginine and creatine monohydrate with multiple antiepileptic drugs.

• Clinical and Experimental Pediatrics
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• 제46권5호
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• pp.510-513
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• 2003

저자들은 호흡곤란, 근력저하, 발달지체로 병원에 온 3 개윌된 남아의 염색체 핵형분석에서 46, XY, dup(7)(q36q33)으로 진단된 1례를 경험하였기에 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제56권3호
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• pp.139-142
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• 2013

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We experienced a case of a newborn who required intubation and ventilator care because of profound hypotonia and respiratory difficulty. The preliminary diagnosis at the time of request for retrieval was hypoxic ischemic encephalopathy, but the infant was clinically reevaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size and centrally located nuclei in nearly all the fibers. We detected an MTM1 gene mutation of c.1261-1C>A in the intron 10 region, and diagnosed the neonate with myotubular myopathy. The same mutation was detected in his mother.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제8권1호
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• pp.133-138
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• 1997

Prader-Willi 증후군(Prader-Willi Syndrome, PWS)은 $50{\sim}-70%$ 정도의 환자에서 염색체 15번에 이상이 있음이 보고된 유전적인 질환으로서, 그 특징적인 임상양상은 심한 근긴장의 저하(hypotonia), 반사소실(areflexia), 섭식의 곤란(feeding difficulty), 저체온증(hypothermia), 성기왜소증(microgenitalia), 음낭저형성증(hypoplastic scrotum), 대식증(polyphagia), 포만감의 감소와 비만, 정신운동발달의 지연, 저성선기능증(hypogonadism) 및 안면과 척추의 기형 등이다. 또한 행동상의 여러 문제들이 동반되는데 분노발작, 피부를 심하게 뜯거나 발모광, 과도한 식욕과 관련된 음식 도벽증이 나타나므로 정신과적 치료가 필요하다. 본 증례는 14세된 PWS환자로서 비만과 대식증, 도벽증, 학업부진 및 생활부적응 문제 등으로 2주간의 입원과 약 1년간의 추적기간 동안 약물요법(fluoxetine 투여)과 행동요법, 그리고 가족요법을 받아 왔다. 장기간의 Fluoxetine투여를 통하여 비만과 식욕의 조절에는 효과가 만족스럽지 않았으나 우울감과 감정문제, 자살사고 및 행동문제들은 호전되었다.