Abstract:
BACKGROUND/PURPOSE:Haddad syndrome (HS) is a very rare disease considered a form of neurocristopathy. It is characterized by a combination of congenital central hypoventilation syndrome (CCHS) and Hirschsprung's disease (HD). We report the clinical features and disease progression of HS to provide better care for HS patients by achieving an earlier diagnosis and optimal treatment. METHODS:Medical records of patients diagnosed with HS from 2005 to 2016 were retrospectively reviewed. Demographic data including gestational age, birth weight and height, and paired-like homeobox 2b (PHOX2B) gene mutation were collected. RESULTS:Seven males and three females were identified (mean gestational age 39.76 ± 1.49 weeks, mean birth weight 3117.5 ± 288.9 g). PHOX2B gene mutation was identified in all patients. Immediate ventilation care after birth was required in five patients due to poor respiration. The current median age of the children is 5.4 years (range, 1.8-10.1). Tracheostomy was performed in nine patients. Eight patients required sleep ventilation and two patients, 24-h continuous ventilation support. Six patients showed rectosigmoid aganglionosis and four patients exhibited total colonic aganglionosis, of these one had aganglionosis extended to the distal small bowel. Soiling was observed in seven patients (5 with laparoscopy-assisted transanal endorectal pull-through and 2 with Duhamel procedure) and one patient showed grade 2 constipation with Duhamel procedure. Six patients had developmental delay. All patients are alive. CONCLUSIONS:HS may require lifelong medical care. This study could be helpful to understand the clinical features of HS including associated abnormalities and disease progression. By assisting to understand the clinical features, we could provide better care for HS patients by achieving an earlier diagnosis and appropriate treatment. TYPE OF STUDY:Prognosis study. LEVEL OF EVIDENCE:Level IV.
journal_name
J Pediatr Surgjournal_title
Journal of pediatric surgeryauthors
Woo HY,Oh C,Han JW,Kim HY,Jung SEdoi
10.1016/j.jpedsurg.2019.01.066subject
Has Abstractpub_date
2020-03-01 00:00:00pages
387-392issue
3eissn
0022-3468issn
1531-5037pii
S0022-3468(19)30126-5journal_volume
55pub_type
杂志文章abstract:BACKGROUND:Urologic complications after pediatric renal transplantation can adversely effect the outcome and may result in decreased graft survival. Efforts to prevent these complications are worthwhile. This study investigates the incidence of these complications in a clinical transplant program and reports on an anim...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(99)90654-1
更新日期:1999-11-01 00:00:00
abstract::The disappearance of intraperitoneal free air after pediatric laparotomy has been the subject of much talk and speculation, but little scientific publication. Moreover, there is no unanimous opinion as to the "correct" time of disappearance of such postoperative free air. Eighty-eight pediatric surgical patients rangi...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(85)80233-5
更新日期:1985-08-01 00:00:00
abstract::The ability of physicians to identify a patent processus vaginalis by laparoscopic examination of the internal ring is now well established, but the efficacy on patient outcome is not. The authors reviewed their experience to determine the effect of diagnostic laparoscopy of the internal ring on the management of chil...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/0022-3468(95)90562-6
更新日期:1995-02-01 00:00:00
abstract::Pneumothorax is a common complication of ventilator therapy and usually responds to tube thoracostomy. Persistent pneumothorax with a large air leak may indicate the presence of a bronchopleural fistula (mean weight 1360 g) with (BPF) required FIO2 of 1.0, a peak inspiratory pressure of 33 cm H2O and were hypoxemic (x...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(80)80746-9
更新日期:1980-08-01 00:00:00
abstract::Cystic lesions of the spleen are uncommon, about 600 cases being reported in the world literature. This report concerns three pediatric patients treated by partial splenectomy for benign cyst. In the world literature most of the cystic lesions of the spleen are treated by splenectomy and more recently by partial splen...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(86)80357-8
更新日期:1986-09-01 00:00:00
abstract:PURPOSE:Chronic illness in infancy may influence parent-infant interaction. We assessed quality of mother-infant interaction in children with esophageal atresia (EA) and searched for predictors for impaired interaction. METHODS:The study group comprised 37 one-year-old infants with EA born in 1999 to 2002 and their mo...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2008.04.011
更新日期:2008-10-01 00:00:00
abstract:BACKGROUND/PURPOSE:Diagnosis and management of the acute abdomen in patients with spina bifida (SB) can be problematic. There are at least 4 clinical factors that can predispose to the development of acute abdominal symptoms and signs, and patients with a thoracic level lesion can have a partially insensate abdomen. Th...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1053/jpsu.2001.26375
更新日期:2001-09-01 00:00:00
abstract:PURPOSE:In pediatric endoscopic surgery, a limited view and lack of tactile sensation restrict the surgeon's abilities. Moreover, in pediatric oncology, it is sometimes difficult to detect and resect tumors due to the adhesion and degeneration of tumors treated with multimodality therapies. We developed an augmented re...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2013.08.025
更新日期:2013-12-01 00:00:00
abstract:PURPOSE:Under a Food and Drug Administration directive, we examined definite long-term safety and efficacy aspects of an engineered diaphragmatic tendon graft as a regulatory prerequisite for clinical trials. METHODS:Newborn lambs (N = 27) underwent partial diaphragmatic replacement with a Teflon patch, a composite ac...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2010.09.063
更新日期:2011-01-01 00:00:00
abstract::A 15-year-old girl had massive watery and protein-losing diarrhea. She was found to have a pancreatic islet cell tumor secreting high levels of vasoactive intestinal polypeptide. Eighty-five percent pancreatic resection was needed to remove the tumor. She has normal serum VIP levels and no tumor recurrence 6 years lat...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(86)80116-6
更新日期:1986-11-01 00:00:00
abstract:PURPOSE:We previously demonstrated that patients with pectus excavatum (PE) have significantly decreased chest wall motion at the pectus defect compared with the rest of the chest vs unaffected individuals and use abdominal respiratory contributions to compensate for decreased upper chest wall motion. We hypothesize th...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2011.10.038
更新日期:2012-01-01 00:00:00
abstract::Inflammatory myofibroblastic tumor is an uncommon lesion, also called pseudotumor, with a variable natural course from benign with spontaneous regression to mimicking malignant tumors. We report a case of diffuse peritoneal and omental pseudotumor in a 10-year-old boy characterized by aggressive behavior at the onset ...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2011.01.007
更新日期:2011-04-01 00:00:00
abstract:INTRODUCTION:The aim of this study was to evaluate the characteristics of inguinal hernia (IH) and patent processus vaginalis (PPV) in term and preterm infants less than the age of 6months. METHOD:Between January 2004 and December 2012, 246 term and 165 preterm infants underwent laparoscopic herniorrhaphy within the f...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2014.03.013
更新日期:2014-09-01 00:00:00
abstract:BACKGROUND/PURPOSE:The presence of cholelithiasis is being reported with increased frequency in childhood. Little is known about the natural history of the disease, and only a few studies have been published regarding long-term results of treated patients. Controversy still exists regarding optimal treatment. Both chol...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1053/jpsu.2001.27035
更新日期:2001-10-01 00:00:00
abstract::Three infants with progressive upper esophageal stenosis had bilateral vocal fold paralysis. The patients were apparently normal at birth and without neurologic abnormality. Cricopharyngeal myotomy, followed by serial dilatations, relieved esophageal stenosis and restored the swallowing function. Vocal fold mobility, ...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2004.07.022
更新日期:2004-11-01 00:00:00
abstract::Incidence of congenital diaphragmatic hernia (CDH) ranges from 1 in 2,400 to one in 5,000 live births. Associated anomalies in CDH are approximately 30% to 35%. The authors report on an infant with CDH and an accessory supradiaphragmatic liver with separate vascularization from the thoracic aorta. The pathogenesis of ...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1053/jpsu.2001.24020
更新日期:2001-06-01 00:00:00
abstract::The case of a child with advanced hepatocellular carcinoma that did not respond to systemic chemotherapy is presented. Three courses of chemoembolization (hepatic arterial chemoembolization) were given, with partial tumor response. The hepatic artery was cannulated via the femoral artery using the Seldinger technique....
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2005.06.011
更新日期:2005-10-01 00:00:00
abstract::The association of Hirschsprung's disease (HD) and trisomy 21 has been well recognised. Seventeen (13%) of 135 patients presenting with HD between 1975 and 1992 had trisomy 21. Nine (53%) presented in the neonatal period, with intestinal obstruction (5), enterocolitis (2), or perforation of the colon (2). Eight patien...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/0022-3468(94)90369-7
更新日期:1994-06-01 00:00:00
abstract:BACKGROUND:Gastroschisis and omphalocele are congenital abdominal wall defects (AWD). Atrazine and nitrates are common agricultural fertilizers. METHODS:The Centers for Disease Control and Prevention natality data set was used to collect data for patients with AWD born between January 1990 and December 2002. Similar d...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2007.01.027
更新日期:2007-06-01 00:00:00
abstract::Eleven patients have been followed from 1 to 6 yr after diagnosis and treatment during infancy of partially obstructing antral web. Seven had surgical correction, six with web excision and pyloroplasty. Four were treated nonoperatively with antispasmodics and small curd formula. Five of the seven operated infants had ...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(80)80006-6
更新日期:1980-04-01 00:00:00
abstract:BACKGROUND:Guidelines for evaluating the cervical spine in pediatric trauma patients recommend cervical spine CT (CSCT) when plain radiographs suggest an injury. Our objective was to compare usage of CSCT between a pediatric trauma center (PTC) and referral general emergency departments (GEDs). METHODS:Patient data fr...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2013.10.006
更新日期:2014-02-01 00:00:00
abstract:BACKGROUND:Delaying surgery for infants with CDH until they achieve clinical stability is common practice. Stability, however, is inconsistently defined, and many infants fail to reach pre-established criteria. We sought to determine if infants undergoing surgery without meeting pre-established criteria could achieve m...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2013.02.002
更新日期:2013-05-01 00:00:00
abstract:OBJECTIVE:Our objective was to analyze performance of noninvasive markers for significant esophageal varices in relation to outcomes of endoscopic surveillance and primary prophylaxis in biliary atresia (BA). METHODS:This was a prospective follow-up study of a national cohort of BA patients born between 1989 and 2017,...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2020.06.017
更新日期:2020-12-01 00:00:00
abstract:PURPOSE:"Upside-down" kidney placement has been reported as an acceptable alternative in cases of technical difficulty in kidney transplantation but there are few reports in the pediatric population. The aim of our study is to analyze whether the placement of the upside-down kidney could affect graft outcome or produce...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2020.09.019
更新日期:2020-09-30 00:00:00
abstract::The aims of this experiment were: (1) to establish a reovirus type 3-induced murine model of biliary atresia/neonatal hepatitis that as far as possible corresponds to the human disease; (2) to demonstrate that the disease is histologically similar to the human disease, and to investigate the natural history of reoviru...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/0022-3468(92)90380-p
更新日期:1992-07-01 00:00:00
abstract:INTRODUCTION:Bacterial intestinal translocation plays an important role in neonatal sepsis. We aimed to elucidate the importance of such translocation in causing central line associated blood stream infection (CLABSI) in patients undergoing gastrointestinal surgery (GIS). METHODS:Using a database of pediatric patients...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2020.02.012
更新日期:2020-08-01 00:00:00
abstract::A consecutive series of 90 children with anorectal malformations was reviewed for urologic problems related to lower urinary tract dysfunction. Neurogenic bladder-sphincter dysfunction was seen in 22 patients (24%), all but one of whom had sacral agenesis. Vesicoureteral reflux was present in 60% of the patients with ...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(96)90663-6
更新日期:1996-05-01 00:00:00
abstract::Mediastinal neurenteric cysts are the least common types of the bronchopulmonary foregut malformations, and their antenatal diagnosis is rare. We report a case of mediastinal neurenteric cyst diagnosed on antenatal ultrasonography at 28 weeks' gestation. A small intraspinal component and vertebral segmentation anomali...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/j.jpedsurg.2010.03.007
更新日期:2010-06-01 00:00:00
abstract:BACKGROUND/PURPOSE:Femoral herniae are uncommon in children and easily misdiagnosed. To evaluate performance with femoral hernia in children, the authors reviewed their experience for the past two decades. METHODS:All patients under 15 years of age with femoral hernia (January 1977 to January 1998) were reviewed. Age,...
journal_title:Journal of pediatric surgery
pub_type: 杂志文章
doi:10.1016/s0022-3468(99)90576-6
更新日期:1999-07-01 00:00:00
abstract:BACKGROUND/PURPOSE:Biliary atresia (BA) is associated with progressive liver fibrosis, which may be mediated by immunologic abnormalities involving adhesion molecules. This study investigates the relationship between serum intercellular adhesion molecule-1 (sICAM-1), serum vascular cell adhesion molecule-1 (sVCAM-1), a...
journal_title:Journal of pediatric surgery
pub_type: 临床试验,杂志文章
doi:10.1053/jpsu.2001.25798
更新日期:2001-08-01 00:00:00