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PubMed1982

Multiple congenital abnormalities in a newborn boy associated with maternal use of fluphenazine enanthate and other drugs during pregnancy.

A boy was born with a short sloping forehead, wide metopic suture, persistent metopic fontanelle, telecanthus, ocular hypertelorism, nystagmoid eye movements, bilateral cleft lip and palate, imperforate anus, rectourethral fistula, bifid scrotum and an unusual penis with hypospadias. The neutrophil polymorphs had numerous nuclear projections. The pregnancy was complicated by chronic maternal schizophrenia, severe toxaemia and maternal use of fluphenazine enanthate, dicyclomine hydrochloride, doxylamine succinate, pyridoxine hydrochloride and other drugs. Details of mother's illness, pregnancy and drug usage are presented with the clinical findings and investigations.

Abnormalities, Drug-Induced↗
PubMed2005

Two cases of a fetus with sirenomelia sequence.

We report two cases of a fetus with sirenomelia sequence which showed oligohydramnios and a single umbilical artery. The first case was of a single fetus with symelia apus and only one leg. Prenatal diagnosis of this case was possible. The second case was of a dichorionic-diamniotic twin pregnancy in which one fetus had symelia dipus with two fused lower extremities. Prenatal diagnosis of the condition was not made. In both cases, the fetuses died shortly after birth from respiratory distress due to severe pulmonary hypoplasia. Absence of urinary tract, imperforate anus, and spine deformity were confirmed in both cases. Although prenatal diagnosis of symelia dipus seems difficult, this condition must be considered in a fetus with severe oligohydramnios.

Abnormalities, Multiple↗
PubMed1999

Effects of short term sacral nerve stimulation on anal and rectal function in patients with anal incontinence.

BACKGROUND: Some patients with faecal incontinence are not amenable to simple surgical sphincter repair, due to sphincter weakness in the absence of a structural defect. AIMS: To evaluate the efficacy and possible mode of action of short term stimulation of sacral nerves in patients with faecal incontinence and a structurally intact external anal sphincter. PATIENTS: Twelve patients with faecal incontinence for solid or liquid stool at least once per week. METHODS: A stimulating electrode was placed (percutaneously in 10 patients, operatively in two) into the S3 or S4 foramen. The electrode was left in situ for a minimum of one week with chronic stimulation. RESULTS: Evaluable results were obtained in nine patients, with early electrode displacement in the other three. Incontinence ceased in seven of nine patients and improved notably in one; one patient with previous imperforate anus and sacral agenesis had no symptomatic response. Stimulation seemed to enhance maximum squeeze pressure but did not alter resting pressure. The rectum became less sensitive to distension with no change in rectal compliance. Ambulatory studies showed a possible reduction in rectal contractile activity and diminished episodes of spontaneous anal relaxation. CONCLUSIONS: Short term sacral nerve stimulation notably decreases episodes of faecal incontinence. The effect may be mediated via facilitation of striated sphincter muscle function, and via neuromodulation of sacral reflexes which regulate rectal sensitivity and contractility, and anal motility.

Adult↗
PubMed1983

Malformations associated with congenital absence of the gall bladder.

Thirty-four cases (29 children and five adults) of congenital absence of the gall bladder were found in a retrospective necropsy study. When the distribution of associated malformations in these patients was analysed, the cases were found to fall into several groups. The largest group (13) had multiple anomalies involving the genitourinary (83% reproductive tract, 42% renal), gastrointestinal (46% imperforate anus, 23% tracheo-oesophageal fistula), cardiovascular (54% cardiac defects, 23% single umbilical artery), and skeletal (31%) systems. Eight other patients had predominantly cardiac anomalies in addition to the agenesis of the gall bladder. Five had abnormalities associated with defects of the anterior abdominal wall. There were no additional malformations in the remaining cases. Family history was negative in all, suggesting a sporadic occurrence. Comparison with previously reported cases confirmed a similar distribution of anomalies. The hitherto unrecognised but consistent pattern of multiple malformations found with agenesis of the gall bladder may imply a non-random tendency for these defects to occur together.

Abnormalities, Multiple↗
PubMed1996

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

Pallister-Hall syndrome (PHS) was originally described in 1980 in six sporadic cases of children with structural anomalies including hypothalamic hamartoma, polydactyly, imperforate anus, and renal and pulmonary anomalies. In 1993, the first familial cases were reported, including affected sibs and vertical transmission. Three of these families are sufficiently large to allow initial evaluation by linkage studies to candidate genes or loci. We have evaluated candidate loci for PHS based on three clinical observations. The first is a patient with PHS-like malformations, including a hypothalamic hamartoma, and an unbalanced translocation involving 7q and 3p. The second is a family with familial PHS where the founder's father had an autosomal dominant hand malformation previously mapped to 17q. The third is the phenotypic overlap of PHS and Smith-Lemli-Opitz syndrome. In this report, we exclude these loci as candidates for linkage to the PHS phenotype on the basis of lod scores of less than-2.0. We conclude that hypothalamic hamartoma is not specific to PHS and that the dominant hand malformation in one of the families was a coincidence. To evaluate the relationship of PHS to Smith-Lemli-Opitz syndrome, we analysed levels of cholesterol and intermediate metabolites of the later stages of cholesterol biosynthesis. There is no evidence of a generalised disorder of cholesterol biosynthesis in patients with familial PHS. On genetic and biochemical grounds, we conclude that PHS and Smith-Lemli-Opitz syndrome are not allelic variants of a single locus.

Cholesterol↗
PubMed2003

Congenital anorectal abnormalities in six dogs.

Congenital anorectal abnormalities were diagnosed in three male and three female dogs. One dog had anal stenosis, three had a persistent anal membrane, and the other two had an imperforate anus associated with a rectovaginal fistula. Five of the dogs were treated surgically, and four of them which were followed up for periods ranging from one to five years continued to pass faeces normally.

Abnormalities, Multiple↗
PubMed2003

Percutaneous cecostomy: updates in technique and patient care.

PURPOSE: To evaluate the authors' 7-year experience with the percutaneous cecostomy procedure and the long-term outcome of the procedure. MATERIALS AND METHODS: Since 1994, 163 tube cecostomies for fecal incontinence were performed in patients aged 2-23 years and who weighed 8-72 kg (mean, 32.2 kg). Underlying conditions included spina bifida (n = 106), imperforate anus (n = 53), Klippel-Feil deformity (n = 1), cerebral palsy (n = 1), Hirschsprung disease (n = 1), and paraplegia (n = 1). Ventriculoperitoneal shunts were present in 85 (52%) of the 163 patients. The authors have followed up 124 (76%) of the 163 cecostomy patients. Information regarding enema technique, satisfaction with the procedure, postprocedure problems, and long-term outcome of the procedure was obtained by interviewing either the patients or the parents. RESULTS: Tube placement was successful in all patients. One hundred ten (89%) of the 124 patients experienced a substantial decrease in the frequency of soiling accidents. The vast majority of patients expressed satisfaction with the procedure; 117 (94%) of the 124 patients rated the cecostomy procedure as better than the bowel control procedure used before. Late complications of the procedure included granulation tissue and accidentally dislodged tubes. Four patients elected to have their tubes removed for aesthetic and tube management reasons. There was no mortality related to the procedure, although one patient died of pneumonia 5 years later. CONCLUSION: The percutaneous cecostomy procedure is a safe and effective method for treating fecal incontinence.

Adolescent↗
PubMedDate not supplied

Perinatal findings in a male fetus with congenital megacystis and anorectal malformations.

We report the perinatal findings in a male fetus with congenital megacystis and anorectal malformations. A 17-year-old primipara was referred to our department at 13 weeks of gestation for management of a 4.6 x 3.8 cm massive intra-abdominal fetal mass consistent with megacystis. The fetal thorax was severely compressed. We used a 22-gauge needle to perform intrauterine fetal vesicocentesis, removing 30 ml of fetal urine, decreasing the fetal bladder diameter/crown-rump length ratio from 65.7 to 17%. Cytogenetic analysis revealed a 46, XY karyotype. Intermittent bladder aspiration was performed weekly from 13 to 20 weeks of gestation and every 2-3 weeks from 21 to 35 weeks of gestation for the purpose of decompression. Mild dilation of both renal pelves was noted beginning at 20 weeks of gestation, however, neither progression of hydronephrosis nor development of oligohydramnios was noted. At 36 weeks of gestation, a live male neonate was delivered with a normal phallus, duodenal atresia, mild congenital heart defects, a distended bladder, bilateral hydronephrosis, megaureters, imperforate anus with rectovesical fistula, cryptorchidism and bilateral vesicoureteric reflux. The postnatal renal function was normal. He underwent serial operations including colostomy, anoplasty with repair of rectovesical fistula, duodeno-duodenostomy, bilateral re-implantation of ureters, orchiopexy and reduction cystoplasty. At 20 months of age, the child had normal renal function. The intravenous pyelogram showed normal functional kidneys, moderate megaureters and moderate megacystis. He underwent clean intermittent catheterization for residual urine. The recurrent urinary tract infections were under control.

Adolescent↗
PubMed1999

A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst.

We report here a rare case of caudal regression syndrome associated with an intraspinal arachnoid cyst. The patient was a 6-month-old baby girl with multicomplex congenital abnormalities: sacrococcygeal dysgenesis and ventral curvature, large terminal cyst (myelocystocele), spinal arachnoid cyst, cerebellar hypertrophy (suspected), high imperforate anus, partial dysgenesis of the large intestine, omphalocele, atresia of the vagina, bilateral incomplete ureter duplication, incomplete pseudoduplicated bladder and bilateral talipes equinovarus. We performed plastic repair of the myelocystocele and perineal lesion for caudal regression syndrome and partial removal of the cyst wall for the intraspinal arachnoid cyst. She has been well for 3 years postoperatively, and her mental development is normal.

Abnormalities, Multiple↗
PubMed2000

Long-term outcome of terminal myelocystocele patients.

INTRODUCTION: A terminal myelocystocele, a closed form of a neural tube defect (NTD), can present as a large, fully epithelialized, cystic lumbosacral mass containing fat, cerebrospinal fluid (CSF) and neural tissue. The spinal cord terminates at a neural placode wherein the central canal opens into a CSF-filled cavity that is distinct from fluid in the subarachnoid space surrounding the spinal cord. This form of NTD, in our experience, was only associated with major caudal cell mass abnormalities, as these patients often have maldevelopment of the lower spine, pelvis, genitalia, bowel, bladder, kidney and the abdominal wall. This study will describe the clinical manifestations, surgical management and long-term outcome of our terminal myelocystocele patients. METHODS: To characterize this rare entity, a 13-year retrospective review was undertaken at our institution. RESULTS: Nine patients with terminal myelocystoceles were identified. In all cases, there were multiple congenital defects including cloacal exstrophy, imperforate anus, omphalocele, pelvic deformity, equinovarus or renal abnormality. Only 1 out of 9 patients has required a shunt for hydrocephalus. The main goal of neurosurgical intervention was to reduce the size of the mass, which can slowly enlarge over time. The spinal cord was also untethered, although these patients have no chance of bowel or bladder control. With a mean follow-up of 63 months, all patients remained neurologically stable. Impairment of lower extremity function is usually severe. However, some patients were ambulatory with the aid of a walker or orthotic device. All patients required a prolonged hospital stay as well as multiple operations prior to initial discharge. CONCLUSION: Experienced, multispecialty care is needed to optimize the long-term outcome of these complex patients.

Child↗
PubMed2006

Primary repair of esophageal atresia in extremely low birth weight infants: a single-center experience and review of the literature.

BACKGROUND: Advances in neonatal intensive care have led to an increased survival of very low birth weight (VLBW, <1,500 g) and extremely low birth weight infants (ELBW, <1,000 g). Several abnormalities may occur in these children, e.g. esophageal atresia (EA), imperforate anus or abdominal wall defects. Correction of EA is often performed as a staged procedure in this group of patients. OBJECTIVES: To evaluate the feasibility of a primary correction of EA in 4 ELBW and VLBW infants. METHODS: Between 2002 and 2004, 4 infants below 1,200 g were operated on in our institution with a diagnosis of EA with lower tracheoesophageal fistula. Birth weight ranged from 780 to 1,120 g (median: 920 g), gestational age from 28 to 30 weeks. Treatment included closure of the tracheoesophageal fistula and primary anastomosis of the esophagus in a one-step procedure. RESULTS: Primary correction of EA and fistula repair was feasible in all children. Initially, all children had a normal passage of the esophagus as observed in barium swallowing. One child suffering from a leakage of the anastomosis was managed conservatively. Another infant suffered from spontaneous small bowel perforation 6 days after surgery, which was treated by laparotomy. One child developed stenosis of the esophagus and required a single dilatation 14 months after initial treatment. In the 4th child, a type II cleft syndrome was subsequently diagnosed, requiring secondary cleft repair together with semifundoplication. This child eventually died from cytomegalovirus pneumonia. CONCLUSIONS: Primary repair of EA and closure of a tracheoesophageal fistula is technically feasible and offers a good treatment option for ELBW and VLBW infants. Staged repair can be avoided. Infants with cleft syndrome are still a diagnostic and therapeutic challenge.

Anastomosis, Surgical↗
PubMed1995

Lumbosacral agenesis: clinical characteristics, imaging, and embryogenesis.

We report 5 cases of complete, or nearly complete, agenesis of the lumbar and sacral spine. In 1 case pregnancy was terminated at 23 weeks of gestation, and the others were livebirths. The surviving 4 patients were all infants of diabetic mothers. Imperforate anus was present in 2 of 4 liveborn patients and was suspected in the abortus. All liveborn cases were paraplegic, and all exhibited the 'Buddha' deformity of the lower extremities. One patient had congenital obstructive hydrocephalus, probably representing a variant of holoprosencephaly, requiring a ventriculoperitoneal shunt. No other nervous system anomaly was identified in any patient, and the other patients are showing normal cognitive development. We propose that these patients have defects which occurred during germ cell formation (i.e., during gastrulation), with interruption of the primitive streak resulting in combined failure of primary and secondary neurulation.

Female↗
PubMed1986

Clinical studies of 4 methods of bowel preparation in colorectal surgery.

A prospective study was carried out to compare the effectiveness of 4 commonly employed methods of bowel preparation before colorectal surgery: mechanical, mechanical with an antibiotic against aerobes (neomycin), mechanical with another antibiotic against anaerobes (metronidazole), and finally mechanical with a combination of neomycin and metronidazole. The use of mechanical preparation as the sole method was discontinued half-way through the study for ethical reasons. 53 bowel preparations were carried out on 31 patients, 7 adults and 24 children with mainly Hirschsprung's disease and imperforate anus. The incidence of postoperative infections ranged from 40 to 46% in the first 3 groups, in contrast to only 6% in the fourth group (p less than 0.05). The majority of the organisms isolated were gram-negative bacteria. The results show that a combination of mechanical bowel washout with oral neomycin and metronidazole is a most effective method of bowel preparation before colorectal surgery.

Adult↗
PubMed1977

Urinary incontinence: two cases of electronic stimulation after failing the Leadbetter technique.

Two cases of urinary incontinence treated by electrical stimulation after failing the Leadbetter technique are presented. Both were first seen bearing imperforated anus. They suffered several operations for correcting this pathology and further attempting to relieve complete urinary incontinence. After a trial with intrarectal stimulation one of them received an implant. The other continued to use the anal plug. In both cases the result has been satisfactory. Cine radiological documentation of the sphincteric action of the stimulated muscles was performed.

Child↗
PubMed1995

Prenatally diagnosed female prune belly syndrome associated with tetralogy of Fallot.

Female prune belly syndrome and tetralogy of Fallot were diagnosed in obstetric ultrasound screening at 13 and 28 weeks of gestation, respectively. The baby was born at 38 weeks showing abdominal distension, hypoplasia of abdominal muscles, vaginal atresia, imperforate anus and clubfeet. Radiologic and ultrasound examinations confirmed our prenatal diagnosis and revealed other abnormalities of patent ductus arteriosus, major aortopulmonary collateral arteries, bilateral vesicoureteral reflux, rectourethral fistula and hypoplasia of the right kidney. Urination has been smooth, but cystitis was observed repeatedly once a month. The infant was discharged in good condition and has been followed in the outpatient clinic.

Adult↗
PubMed1996

Bifid epiglottis.

The true bifid epiglottis is a rare congenital anomaly typically discovered during the evaluation of stridor in an infant or newborn. While it is not classified as a specific syndrome, there are frequent associations of other congenital anomalies with the bifid epiglottis. These include midline defects (such as microphallus, hypospadius, imperforate anus, and midline laryngeal cleft), endocrine disorders (including congenital hypopituitarism), and central nervous system neoplasms, including hypothalamic hamartoblastoma. The embryogenesis and options for surgical management of this anomaly are reviewed, and one case is presented in detail.

Abnormalities, Multiple↗
PubMed2000

Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature.

Congenital asymmetric crying facies, a minor congenital anomaly due to absence or hypoplasia of the depressor anguli oris muscle on one side of the mouth, is associated at times with major congenital anomalies, most commonly in the cardiovascular system. In a prospective study of 5532 infants born at the Assaf Harofeh Medical Center, Israel, during 12 months (January to December 1998), 17 infants (an incidence of 0.31%) had asymmetric crying facies. One of the affected infants had ventricular septal defect and another infant had VATER (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia) syndrome. No noxious obstetric perinatal factors could be identified. Family history was unremarkable in all cases. Diagnostic work-up performed in all of the affected infants failed to reveal an additional congenital malformation. Asymmetric crying facies is a minor isolated finding in most of the cases; however, a thorough search for other congenital malformations, especially of the cardiovascular system, should be performed.

Crying↗