• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제2권2호
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• pp.256-261
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• 1999

저자들은 선천성거대결장 환아에서 인공항문복원술을 위해 시행한 바륨관장의 부작용으로 발생된 1개월간의 바륨매복을 gastrografin관장으로 성공적으로 제거하였기에 이에 관한 문헌고찰과 더불어 보고하는 바이다.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.39-42
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• 2019

KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anomalies, and neurological problems caused by mutations in the ankyrin repeat domain 11 (ANKRD11) gene. The diagnosis of KBG is difficult in very young infants as the characteristic macrodontia and typical facial features are not obvious. The youngest patient diagnosed to date was almost one year of age. We here describe a 2-month-old Korean boy with distinctive craniofacial features but without any evidence of macrodontia due to his very early age. He also had a congenital megacolon without ganglion cells in the rectum. A de novo deletion of exons 5-9 of the ANKRD11 gene was identified in this patient by exome sequencing and real-time genomic polymerase chain reaction. As ANKRD11 is involved in the development of myenteric plexus, a bowel movement disorder including a congenital megacolon is not surprising in a patient with KBG syndrome and has possibly been overlooked in past cases.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.11-15
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• 2014

Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system characterized by a decreased response to hypercarbia. CCHS is frequently associated with congenital megacolon; the combination is called Haddad syndrome. CCHS is associated with dysfunction in respiratory features of the autonomic nervous system and with other disorders, including facial deformities, cardiovascular symptoms, and tumors. Patients with CCHS frequently have a mutation in the homeobox protein 2b (PHOX2B) gene. Most mutations involve heterozygous expansion of alanine repeats (GCN). Interestingly, a higher polyalanine repeat number is associated with a more severe clinical phenotype. To clarify the role of PHOX2B in disease pathogenesis, we introduce and review the clinical and molecular features of CCHS and Haddad syndrome.

• Advances in pediatric surgery
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• 제8권2호
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• pp.113-118
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• 2002

The etiology of several motility disorders, including persistent megacolon after definitive surgery for Hirschsprung's disease, meconium ileus which is not associated with cystic fibrosis and idiopathic megacolon, is still unclear. Interstitial cells of Cajal (ICC) are thought to modulate gut motility as gastrointestinal pace maker cells. The aim of this study was to evaluate the role of ICC in the bowel walls of the patients (n=15) who had variable motility disorders. The ICC were identified by immunohistochemical staining using an anti-C-Kit antibody and the results were compared with control specimens (n=2). The control group (G1) showed evenly distributed ICC in their bowel walls. The second group (G2, n=5) who had normal bowel movements after Duhamel procedures and the third group (G3, n=4) who had persistent megacolon after Duhamel procedures showed absent or scarcely distributed ICC in their aganglionic bowels. The ICC were immunohistochemical staining using an anti-C-Kit antibody and the results were compared with control specimens (n=2). The control group (G1) showed evenly distributed ICC in their bowel walls. The second group (G2, n=5) who had normal bowel movements after Duhamel procedures and the third group (G3, n=4) who had persistent megacolon after Duhamel procedures showed absent or scarcely distributed ICC in their aganglionic bowels. Whereas ICC were evenly distributed in the ganglionic bowels of G2, they were not seen or scarecely distributed in the ganglionic bowels of G3. Two patients (G4) who suffered from idiopathic megacolon showed absence or decrease of ICC in spite of presence of ganglion cells in their colons. Four neonates (G5) who underwent ileostomy because of meconium obstruction showed absent or markedly decreased ICC in the the colon at the time of ileostomy and the distribution of ICC was changed to a normal pattern at the time of ileostomy closure between 39-104 days of age and their bowel motility were restored after that. The results suggest that lack of ICC caused reduce motility in the ganglionic colons and it may be responsible for the development of various motility disorders. Delayed maturity of ICC may also playa role in the meconium obstruction of neinates.

• Journal of Yeungnam Medical Science
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• 제4권1호
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• pp.33-42
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• 1987

1983년 5월부터 1987년 6월까지 영남대학교 영남의료원에서 선천성 장관폐쇄증으로 내원한 25예를 대상으로 각각의 임상소견 및 방사선학적 소견을 분석하여 다음과 같은 결과를 얻었다. 1. 비후성유문협착증 6예, 중장이상회전증 4예, 선천성 거대결장 8예, 쇄항 5예, 십이지장폐쇄증 및 회장폐쇄증이 각각 1예였다. 2. 남여비는 16:9였으며, 특히 비후성유문부협착증은 6예중 5예가 남아였다. 3. 비후성유문부협착증은 전예에서 상부위장관조영에서 특징적인 String sign 및 beak sign, shoulder sign 등을 나타냈다. 4. 1예의 십이지장폐쇄증은 double bubble sign을 보였고, 회장폐쇄증은 단순복부 사진상 폐쇄성소장공기팽창과 대장조영술에서는 microcolon을 나타내었다. 5. 4예의 중장이상회전증에서는 대장조영술상 맹장이 우측 상복부에 있었으며 2예는 Ladd's band에 의한 십이지장폐쇄를 보였다. 6. 선천성거대결장은 8예가 전부가 직장 및 하부 S자결장에 국한되어 나타났으며, 1예에서는 장염을 동반하였다. 7. 쇄항은 5예중 3예가 low type, 2예가 high type였고, 4예에서 회음부 및 비뇨생식기에 루관을 형성하였다. 위와 같은 결과와 함께 각각의 발생학적 기전과 방사선학적 소견의 문헌 고찰을 통하여 보다 신속하고 정확한 진단을 내리는데 도움을 주고자 하였다.

• Clinical and Experimental Pediatrics
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• 제49권4호
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• pp.446-450
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• 2006

Congenital central hypoventilation syndrome은 혈중 이산화탄소 증가와 저산소에 대한 자율 신경계와 호흡 조절 기능의 선천성 결함으로 호흡의 저환기가 주로 수면시에 발생하는 질환이다. 이는 신경 이주장애 질환(neurocristopathy)에 속한다고 알려져 있으며 선천성 거대결장 등의 질환과 잘 동반된다. 아직까지 확실한 완치법은 없는 상태이고 환아들은 평생을 환기 보조에 의존하여 생존해야 하며 적절한 환기 보조를 통해서 생존 기간을 연장할 수 있다. 저자들은 출생시부터 반복되는 수면시의 무호흡과 청색증이 있는 환아에서 congenital central hypoventilation 및 선천성 거대 결장이 동반된 1례를 경험하였기에 보고하는 바이다.

• Journal of Genetic Medicine
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• 제11권2호
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• pp.74-78
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• 2014

Sotos syndrome (SS, OMIM 117550) is characterized by prenatal and postnatal overgrowth with multiple congenital anomalies. However, there have been few cases of growth retardation caused by renal failure from infancy. We report a case of dysplasia of the bilateral kidneys with renal failure and poor postnatal growth. A 2-month-old boy visited the emergency room owing to poor oral intake and abdominal distension. He was born at the gestational age of 38 weeks with a birth weight of 4,180 g. After birth, he had feeding difficulty and abdominal distension. Upon physical examination, his height and weight were in less than the 3rd percentile, while his head circumference was in the 50th percentile on the growth curve. He also showed a broad and protruding forehead and high hairline. Blood laboratory tests showed severe azotemia; emergent hemodialysis was needed. Abdominal ultrasonography revealed bilateral renal dysplasia with multiple cysts and diffuse bladder wall thickening. A posterior urethral valve was suggested based on vesicoureterography and abdominal magnetic resonance findings. Results of a colon study to rule out congenital megacolon did not reveal any specific findings. The conventional karyotype of the patient was 46, XY. Array comparative genomic hybridization study revealed a chromosome 5q35 microdeletion including the NSD1 gene, based on which SS was diagnosed. We describe a case of SS presenting with end stage renal disease due to posterior urethral valve. The typical somatic overgrowth of SS in the postnatal period was not observed due to chronic renal failure that started in the neonatal period.