The development of the central nervous system is a continuous process during the embryonic and fetal periods. For a better understanding of congenital anomalies of central nervous system, three major events of normal development, i.e., neurulation (3 to 4 weeks), brain vesicle formation (4 to 7 weeks) and mantle formation (over 8 weeks) should be kept in mind. The first category of anomalies is neural tube defect. Neural tube defects encompass all the anomalies arise in completion of neurulation. The second category of central nervous system anomalies is disorders of brain vesicle formation. This is anomaly that applies for "the face predicts the brain". Holoprosencephaly covers a spectrum of anomalies of intracranial and midfacial development which result from incomplete development and septation of midline structures within the forebrain or prosencephalon. The last category of central nervous system malformation is disorders involving the process of mantle formation. In the human, neurons are generated in two bursts, the first from 8 to 10 weeks and next from 12 to 14 weeks. By 16 weeks, most of the neurons have been generated and have started their migration into the cortex. Mechanism of migration disorders are multifactorial. Abnormal migration into the cortex, abnormal neurons, faulty neural growth within the cortex, unstable pial-glial border, degeneration of neurons, neural death by exogenous factors are some of the proposed mechanism. Agyria-pachygyria are characterized by a four-layerd cortex. Polymicrogyria is gyri that are too numerous and too small, and is morphologically heterogeneous. Cortical dysplasia is characterized by the presence Q[ abnormal neurons and glia arranged abnormally in focal areas of the cerebral cortex. Neuroglial malformative lesions associated with medically intractable epilepsy are hamartia or hamartoma, focal cortical dysplasia and microdysgenesis.ysgenesis.
In our hospital we have seen 20 cases of congenital diaphragmatic anomalies from June 1984 until December 1993. These were classified into 10 cases of diaphragmatic eventration, 8 cases of Bochdalek hernia, 1 case of Morgagni hernia, and 1 case of esophageal hiatal hernia. Diaphragmatic eventration cases were composed of 8 males and 2 females with ages varing from 3 hour to 42 year. They were discovered by symptoms: 5 cases of respiratory insufficiency; 3 cases of frequent respiratory infection; and 2 cases by chance; 6 cases involved the left side, 4 cases involved right side. Emergency operations were done to 4 patients. Among the 10 patients, only one operative mortality occurred; 3 hour old female.Bochdalek hernia cases composed 6 females and 2 males, 5 patients were less than 6 hour old. All patients were operated on an emergency status and three of them expired due to the vicious cycle of pulmonary hypertension and pulmonary vasoconstriction, persistent fetal circulation, hypoxia, and metabolic acidosis. Morgagni hernia was seen in one 69 year old female patient, she had no complaint of symptoms and was incidentally detected. Hernia was repaired through right thoracotomy. She was discharged with healthy appearence. Esophageal hiatal hernia was seen in a 10 month old male patient, his symptoms were persistent vomiting and coughing since birth. Sliding type of esophageal hiatal hernia repair was completed through left thoracotomy.
Boaz, Alexander M.;Grasso, Salvatore A.;DeRogatis, Michael J.;Beesley, Ellis N.
Journal of Genetic Medicine
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v.16
no.1
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pp.15-18
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2019
SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.
Lee, Ji Joung;Lee, Min A;Rhee, Yun ee;Chang, Mea Young;Kil, Hong Ryang
Clinical and Experimental Pediatrics
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v.50
no.3
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pp.268-271
/
2007
Purpose : Premature narrowing of the foramen ovale is rare but serious clinical entity. Prenatal narrowing or obstruction of the foramen ovale shows symptoms such as right heart failure, fetal hydrops, triscupid regurgitation, left heart obstructive disease, and supraventricular tachycardia. This study aimed to assess the prenatal diagnosis and postnatal clinical course of restrictive foramen ovale in utero in otherwise normal heart. Methods : The subjects were five patients diagnosed with restrictive foramen ovale in utero from January 2001 to June 2005 at Chungnam National University Hospital. The diagnostic criteria was defined when the maximum diameter in a 4-chamber view is less than 2.5 mm and there is a continuous doppler velocity at the foramen ovale of more than 0.6m/s. Results : At the time of diagnosis of restrictive foramen ovale, gestation age was 34~37 wks, and chief complaints were fetal arrhythmia(2 cases), pericardial effusion, Ebstein anomaly and subaortic stenosis. Two cases which were diagnosed fetal hydrops and supraventricular tachycardia delivered by emergent cesarian section. Five cases were found to have right heart dilatation on echocardiogram after birth, but right heart dilatation became normalized at day 7 after birth and the clinical courses were not eventful. Conclusion : Identifying an obstructed foramen ovale in the fetus warrants the further search for additional cardiac and extracardiac anomalies, which may alter the prognosis. Delivery should be induced if possible in cases of foramen ovale obstruction with signs of cardiac decompensation.
Lee, Myung In;Sohn, So Hee;Lee, Dae Joon;Ha, Dong Yul;Jee, Young Koo;Lee, Kye Young;Kim, Keun Youl;Choi, Young Hi;Cho, Jeong Hi;Seo, Pil Weon;Kim, Sam Hyun
Tuberculosis and Respiratory Diseases
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v.43
no.5
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pp.805-811
/
1996
Congenital cystic adenomatoid malformation of the Lung(CCAM) is characterized by anomalous fetal development of terminal respiratory structures, resulting in an adenomatoid proliferation of bronchiolar elements and cystic formation. CCAM was first described and differentiated from other cystic lung disease in the English literature by Ch'in and Tang in 1949. CCAN is a rare, potentially lethal form of congenital pulmonary cystic disease and the salient features of lesion are an irregular network of terminal respiratory bronchiole-like structures and macrocysts variably lined by pseudostratified ciliated columnar epithelium and simple cuboidal epithelium. Adult presentation of CCAM of the lung is so rare that only 9 cases have been reported in the literature of date. The pathogenesis of CCAM remains disputed and reseachers have variously proposed that the lesion represents a developmental anomaly, hamartoma, or a fonn of pulmonary dysplasia. Van Dijk and Wagenvoort divided CCAM into three subtypes : cystic, intermediated, and solid. These correspond to types I, II, and III of Stocker. In adults, the evaluation of cystic or multi cystic lung disease requires consideration of a differential diagnosis including the acquired lesions of lung abscess, cavitary neoplasm or inflammatory mass, bullous disease, bronchiectasis, and postionflammatory pneumatocele. Congenital lesions such as sequestration, bronchopulmonary-foregut anomalies, and bronchogenic cyst are also encounted. The definitive treatment for CCAM is complele removal of the involved lobe. Panial lobectomy leads to multiple complications, including severe post-operative infection. We report a case of CCAM in a 14-year-old female presentated with a pneumothorax and large bullae, who was treated by surgical remove of the involved lobe.
Koh, Kyung Suck;Kim, Hoon;Choi, Jong Woo;Won, Hye Sung;Kim, Sun Kwon
Archives of Plastic Surgery
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v.34
no.2
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pp.181-185
/
2007
Purpose: Cleft lip and/or palate is the most common congenital facial anomaly whose incidence is about 1 in 500~1000 live births. As this anomaly may be associated with the serious chromosomal anomalies or the multiple organ abnormalities resulting in the fetal loss or perinatal maternal morbidity and mortality, careful prenatal counseling with early and accurate detection is important. Although conventional prenatal ultrasound(US) examination in midterm pregnancy has been applied for screening of cleft lip, there are definite limitations in the diagnosis of accompanying cleft palate or alveolar cleft. We applied high-resolution 3D US along the serial axial, coronal and sagittal plane so that we could diagnose the cleft palate and/or alveolar cleft in fetuses with cleft lip. Methods: From May 2005 to September 2005, 20 fetuses with cleft lip were examined with prenatal 3D US. Average maternal age was 28.8 years old(24-35 years old), and average gestational age was 24.8 weeks(17.6 to 34.2 weeks). Consecutive axial, coronal and sagittal multislice view were obtained via prenatal 3D US examination and diagnosis of cleft palate and/or alveolar cleft in cleft lip fetuses was followed. Results: With noninvasive and safe prenatal 3D US examination, 17 of 20 cleft lip fetuses were demonstrated to have cleft palate and/or alveolar cleft. Prenatal counseling according to the result was made. Conclusion: Existing prenatal US examination is suitable for screening the cleft lip fetuses but has limitation in identifying the related existence of cleft palate and/ or alveolar cleft. Authors verify the presence of cleft palate and/or alveolar cleft acquiring the successive multislice axial, coronal, and sagittal view with prenatal 3D US examination. Therefore, prenatal 3D US examination could be regarded as a noninvasive and secure screening modality in fetuses with cleft lip for confirming whether cleft palate and/or alveolar cleft is accompanied.
Kim, Su Hyun;Chung, Yoon Sook;Oh, Sung Hee;Kim, Nam Su;Kim, Hyuck
Clinical and Experimental Pediatrics
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v.45
no.2
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pp.261-266
/
2002
Vascular ring, originating from abnormal regression of the aortic arch during fetal life, can cause prolonged and recurrent respiratory symptoms and dysphagia when the diagnosis is delayed. We report a 4 month old girl with vascular ring, who had been treated for persistent respiratory symptoms including stridor, wheezing, and dyspnea soon after birth. Initially her respiratory symptoms were thought to be due to bronchiolitis, for which respiratory syncytial virus was confirmed by immunofluorescent staining. Her clinical course was again complicated with tracheitis and pneumonia due to Haemophilus influenzae type b. The possibility of anatomical anomaly was investigated when it was felt to be difficult to insert a suction catheter deep down through a endotracheal tube which was placed for adequate ventilatory management. A three-dimensional chest CT revealed a vascular ring consisting of a double aortic arch. For 5 months following surgery, her respiratory symptoms have slowly been improving. She developed another episode of pneumonia which was milder than the one which occurred before the surgery.
Ahn, Kyung Jin;Yoon, Ja Kyoung;Kim, Gi Beom;Kwon, Bo Sang;Go, Jung Min;Moon, Jin Su;Bae, Eun Jung;Noh, Chung Il
Clinical and Experimental Pediatrics
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v.58
no.10
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pp.392-397
/
2015
Purpose: Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis. Methods: We conducted a retrospective study of 41 patients with Alagille syndrome or a JAG1 mutation between 1983 and 2013. Results: The first presentations were jaundice, murmur, cyanosis, and small bowel obstruction at a median age of 1.0 months (range, 0-24 months). The JAG1 mutation was found in 27 of the 28 genetically-tested patients. Cardiovascular anomalies were identified in 36 patients, chronic cholestasis was identified in 34, and liver transplantation was performed in 9. There was no significant correlation between the severity of the liver and cardiac diseases. The most common cardiovascular anomaly was peripheral pulmonary stenosis (83.3%), with 13 patients having significant hemodynamic derangement and 12 undergoing surgical repair. A total bilirubin level of >15 mg/dL with a complex surgical procedure increased the surgical mortality (P=0.022). Eight patients died after a median period of 2.67 years (range, 0.33-15 years). The groups with fetal presentation and with combined severe liver and heart disease had the poorest survival (P<0.001). Conclusion: The group with combined severe liver and heart disease had the poorest survival, and a multidisciplinary approach is necessary to improve the outcome.
During a 6-year period, from January 1990 to December 1995, 101 neonates with congenital anomalies were admitted to the division of Pediatric Surgery of Youngdong Severance Hospital. All of them had prenatal screening more than once with ultrasound. Fifty eight of them had prenatally detectable anomalies by ultrasonography. However abnormalities were prenatally detected in 24 neonates(41%). The detection rate was 70% in patientws who had the prenatal screening at our hospital, whereas, the rate was 24% when it was performed at other medical facilities. Duodenal and jejuno-ileal atresia showed the highest detection rate(86%) followed by abdominal mass. Esophageal atresia was suggested by maternal polyhydramnios in 3 patients (25%). Only one patient with diaphragmatic hernia(1.75%) was prenatally detected and none with gastroschisis. The mean interval from birth to operation was 32 hours in the prenatally detected patients and 50 hours in the non detected. The complication rate and the mortality after emergency operation were 20% and 7% in the detected group, and 58% and 23% in the nondetected, respectively. The average period of the hospitalization was 20 days in the detected group and 39 days in the nondetected. We conclude that the prenatal detection of anomalies is necessary to ensure adequate care for the mothers and the babies with congenital anomalies. This includes early transfer, timing of optimal delivery and operation.
Yoon, Hoe-Soo;Yum, Mi Sun;Lee, Joo Hoon;Park, Young Seo;Kim, Kun Seok;Yoon, Chong Hyun;Moon, Dae Hyuk;Hahn, Hyewon
Clinical and Experimental Pediatrics
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v.49
no.1
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pp.64-70
/
2006
Purpose : The natural courses of prenatally diagnosed hydronephrosis(HN) are diverse. Our purpose was to determine if the findings of renal ultrasonography(USG) in patients with prenatal HN at 1 month of age can predict the 1 year follow-up results and determine the guideline of follow-up study. Methods : Among 462 hydronephrotic patients registered between 1996 and 2004, 153 unilateral hydronephrotic renal units were enrolled in this study, bilateral HN, vesicoureteral reflux and other associated anomaly were excluded. These were classified into four groups respectively, according to anterior posterior pelvic diameter(APPD) or Society for Fetal Urology(SFU) grading by USG findings at 1 month after birth. Renal USG and $Tc^{99m}$-mercaptoacetyl triglycerine(MAG3) scan were done according to a set protocol. Results : Most cases improved or remained stationary. No one underwent an operation SFU grade 1,2 groups and only one case of SFU grade 3 group was operated. Thirty two cases(64 percent) were operated on among the 50 cases of SFU grade 4 group. 0/2(0 percent), 5/11(45.5 percent), 11/17(64.7 percent) and 16/20(80 percent) were operated on in each group with APPD <10, 10-19, 20-29, >30 mm, and the operation risk is higher as the APPD is increased. Conclusion : In group with SFU grade below 3 and APPD below 10 mm, we can delay the follow-up study beyond existing set protocol. Operations are recommended immediately if diuretic renogram show the obstructive pattern or decreased renal function in SFU grade 4 group with APPD over 10 mm.
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