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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Maternal serum alpha-fetoprotein (MS-AFP) screening has become part of routine obstetric care. Although elevated MS-AFP was originally associated with neural tube defects (NTD), it is also able to detect several fetal anomalies of interest to a pediatric surgeon, ie, ventral abdominal wall defects, intestinal atresias, and sacrococcygeal teratomas. Previously, decreased MS-AFP had only been associated with fetal trisomies, but not surgically correctable lesions. In the present study, we review our recent experience with both elevated and decreased MS-AFP as a marker to detect fetal anomalies of concern to the pediatric surgeon. Forty-one fetal anomalies were associated with 333 pregnancies referred for follow-up after abnormal MS-AFP screening results from November 1985 through November 1986. One hundred ninety-six were elevated and 139 were decreased. In most cases, evaluation included counseling, repeat MS-AFP, level II ultrasound, and amniocentesis. This revealed elevated MS-AFP to be associated with 32 (16.3%) anomalies (2 NTD, 5 anencephalics, 5 ventral abdominal wall defects, 1 stage IV-S neuroblastoma, 1 renal anomaly, 1 ventriculomegaly, 15 fetal demises, and 2 fetal-maternal bleeds). Decrease in MS-AFP was associated with nine (6.4%) anomalies (2 congenital diaphragmatic hernias, 3 Down's syndrome, 1 Turner's syndrome, 2 duodenal atresias, and 1 choroid plexus cyst). In this study, MS-AFP detected several fetal anomalies known to be associated with abnormal MS-AFP and three anomalies not previously described (congenital diaphragmatic hernia, neuroblastoma, and choroid plexus cyst). Elevated as well as decreased MS-AFP are significant and should be pursued by a full prenatal evaluation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Maternal serum alpha-fetoprotein is a marker for fetal anomalies in pediatric surgery. 245 Sep 87

Ectopic intrathoracic kidney is an extremely rare congenital disorder. It is generally asymptomatic, being discovered as incidental finding on a routine chest radiograph. Diagnosis is established by an intravenous pyelogram demonstrating an abnormally shaped excretory system with longer than usual ureters, which also helps to differentiate it from other posterior mediastinal tumors, such as neurogenic masses, including neuroblastoma, ganglioneuroma, neurofibroma, neuroenteric cysts, meningoceles and hernia of the foramen of Bochdalek.
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PMID:[Congenital intrathoracic right kidney]. 649 97

Eight cases of nonimmunologic hydrops fetalis (HF) were seen at Cedars-Sinai Medical Center over a 3.5-year period. The etiology of the HF included 2 cases of fetal-maternal hemorrhage and 1 each of sacral teratoma, tachyarrhythmia, diaphragmatic hernia, neuroblastoma, and heart disease. For 1 infant, the cause was never found. These cases involved various diagnostic and therapeutic dilemmas. Only 4 were anticipated ant partum by ultrasound scanning. Two of the 8 fetuses died in utero, whereas 4 others died in the neonatal period. Earlier diagnosis and evaluation are likely to improve these outcomes.
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PMID:Nonimmunologic hydrops fetalis. 701 19

We present three probands with partial trisomies 2p21-23 due to ins(4;2)(q21;p21p23) pat, 2p23-pter due to t(2;4)(p23;q35)mat, and 2p21-pter due to t(2;11)(p21;q23.3)mat. More than 50 cases of partial trisomy 2p have been reviewed and some abnormalities, unusual for most other types of structural autosomal imbalance, have been found in patients with inherited forms of 2p trisomy and in their non-karyotyped sibs. Neural tube defects (anencephaly, occipital encephalocele, and spina bifida) were found in five probands and 4/6 affected non-karyotyped sibs. The only triplicated segment common to all was 2p24. Different forms of "broncho-pulmonary a/hypoplasia" (including two cases of lung agenesis) were described in four patients (overlapping triplicated segment was 2p21-p25). Three patients (with overlapping triplicated segment 2p23-p25) had diaphragmatic hernia. Abnormal rotation of the heart or L-transposition of large vessels (with or without visceral heterotaxia) was found in two infants (overlapping triplicated segment 2p23-p24). In two patients with common triplicated segment 2p22.3-p25, neuroblastoma has been described. The occurrence of all these defects may be explained either by the action of the same gene(s) mapped to 2p24 or by action of some independent factors located in different segments of the short arm. Although the latter hypothesis is much less probable, it can not be rejected at the present time. We propose the existence of a genetic system controlling surveillance of an abnormal embryo to explain the phenotypic differences between patients with the same imbalance within a family. In some "restrictive" combinations the abnormal embryos will die, although in "permissive" combinations they can survive.
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PMID:Trisomy 2p: analysis of unusual phenotypic findings. 771 24

We herein report three pediatric cases of spigelian hernia involving a 6-month-old girl, an 8-month-old girl, and a 3-year-old boy. This is a rare condition with only 20 children (12 boys and 8 girls) younger than 15 years of age previously reported in the literature. Their ages ranged from 6 days to 15 years. The hernia was situated on the right side in six cases, on the left side in nine, and was bilateral in four (with one case unreported). Among these, four cases were caused by trauma and one case by a postoperative complication. Our first and third cases were spontaneous, while the second case was a postoperative lateral ventral hernia. The first and second cases were associated with ipsilateral mediastinal neuroblastoma. No previous report of spigelian hernia has been associated with mediastinal neuroblastoma. We suspected that muscle atrophy caused by the neuropathy of the ninth to twelfth intercostal nerves may have been the cause of the hernia. These two cases are thus believed to be the first such cases to be reported.
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PMID:Pediatric spigelian hernia: reports of three cases. 778 Feb 31

Lumbar hernia is a rare occurrence in infants and children. Congenital variants have been described, frequently associated with musculofascial and skeletal abnormalities, specifically "lumbocostovertebral syndrome" (LCV) and/or meningomyelocele. In LCV syndrome, lumbar herniation results from a single somatic defect occurring during the third to fifth week of embryonal development. Meningomyelocele may predispose to lumbar herniation secondary to abnormalities in muscular innervation related to nerve entrapment in the spinal dysraphism. Acquired lumbar hernia generally can be attributed to surgery, infection, or trauma. Localized neuropraxis, temporary or permanent, may be the underlying factor common to all these defects. The author presents two pediatric cases of lumbar hernia associated with intrathoracic neuroblastoma. The first patient, a 15 month old, had a lumbar hernia after excision of a thoracic ganglioneuroblastoma. This resolved within 1 year, without specific therapy. The second patient, a 4 month old with a lumbar hernia and a large intrathoracic neuroblastoma, had "resolution" of the hernia within 4 months of excision of the paravertebral tumor. In these cases it appears that the lumbar hernia resulted from neuropraxis secondary to intrathoracic paravertebral tumor and its management. In both cases, this deficiency was temporary and resolved without specific therapy. The association of lumbar hernia and intrathoracic neuroblastoma has not been reported previously. These cases suggest the advisability of a screening chest x-ray in children presenting with this diagnosis. Similarly, the cases suggest a role for conservative treatment for the hernia itself, when the neural impairment resulting in the defect is of a temporary nature.
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PMID:Neuroblastoma and lumbar hernia: a causal relationship? 793 72

This article reviews the pathophysiology of congenital defects and tumors that are of interest to the pediatric surgeon. Reliable information has been obtained through prenatal diagnosis of fetal anomalies and careful studies of fetal animal models. The topics covered include fetal diaphragmatic hernia, oligohydramnios-induced pulmonary hypoplasia, renal dysplasia, prune belly, gastrointestinal obstruction, biliary atresia, Wilms' tumor, and neuroblastoma. In addition, some recent experimental studies delineating the ability of the fetus to heal without scarring may have implications for all surgeons.
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PMID:The developmental pathophysiology of surgical disease. 806 34

Simpson-Golabi-Behmel's syndrome is characterized by pre- and postnatal overgrowth, coarse face, visceromegali, congenital anomalies such as heart defects, diaphragmatic hernia and gastrointestinal malformations. Etiology is X-linked inheritance, the causative gene (GPC3) has recently been discovered. Female carriers may have mild symptoms. We report on an eight year old boy with characteristic anomalies and moderately retarded psychomotor development. Differentiating Simpson-Golabi-Behmel's syndrome and other overgrowth syndromes, such as Beckwith-Wiedemann's and Sotos' syndrome can be difficult. Clinical overlap and differences between these three conditions are discussed. The diagnosis of Simpson-Golabi-Behmel's syndrome is important because of increased risk for cardiac arrhytmias and for development of embryonal tumors such as neuroblastoma and Wilms' tumor in early childhood.
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PMID:[Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor development]. 961 82

Congenital spigelian hernia (SH) is very rare in the pediatric age group. This is a report of two cases of SH in 1-week and 3-month-old male infants. A review of the literature revealed only 35 cases of SH in children younger than 17 years of age, bringing the total including our 2 cases to 37. There were 25 males and 12 females, a ratio of 2.1:1. Their ages ranged from 6 days to 17 years (mean 4.52 years). The hernia was situated on the right side in 13, the left side in 19, and was bilateral in 4. In one case the side of the hernia was not mentioned. In 29 cases the hernia was spontaneous while in 5 it was caused by trauma. In 3 children the hernia developed postoperatively, in 2 following repair of a congenital diaphragmatic hernia and in 1 following excision of a mediastinal neuroblastoma. Two children presented with a strangulated SH. Eleven of the 35 previously reported children had associated conditions; in 5 there was an ipsilateral undescended testis (UDT). Our two infants with SH also had an ipsilateral UDT. The significance of this association is discussed.
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PMID:Congenital spigelian hernia and cryptorchidism: cause or coincidence? 1095 84

Thoracoabdominal masses are among the many congenital anomalies being detected in fetus. The differential diagnosis of such anomalies include cystic adenomatoid malformation, pulmonary sequestration, neuroblastoma, lymphangioma, congenital diaphragmatic hernia, and bronchial atresia. We report a fetal thoracoabdominal mass that proved to be an angioma that was treated by partial embolization. Complete regression was observed.
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PMID:Prenatal thoracoabdominal tumor mimicking pulmonary sequestration: a diagnosis dilemma. 1119 9


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