Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital.

OBJECTIVES: To present the results of feminising genitoplasty done in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. DESIGN: Case series. SETTING: A tertiary referral centre in Hong Kong. PATIENTS: Female patients with congenital adrenal hyperplasia undergoing corrective surgery for virilisation between 1993 and 2012. MAIN OUTCOME MEASURES: The operative result was judged with a scoring system (1-3) for four areas: appearance of clitoris, labia and vagina, plus requirement for revision surgery. RESULTS: A total of 23 female patients with congenital adrenal hyperplasia with a median age of 17.5 (range, 1.5-33.8) years were identified. Of these individuals, 17 presented in the neonatal period and early infancy, of which four had an additional salt-losing crisis. Six patients-including four migrants from mainland China-were late presenters at a median age of 2 (range, 0.5-14) years. Twenty-two patients had corrective surgery at a median age of 2 (range, 1-14) years. Clitoral reduction was performed in all, and further surgery in 21 patients. The additional surgery was flap vaginoplasty in 10 patients, a modified Passerini procedure in six, and a labial reconstruction in five; one patient with prominent clitoris was for observation only. Minor revision surgery (eg mucosal trimming) was required in three patients; a revision vaginoplasty was done in one individual. Of the 23 patients, 18 (78%) with a median age of 20 (range, 9.3-33.8) years participated in the outcome evaluation: a 'good' outcome (4 points) was seen in 12 patients and a 'satisfactory' (5-9 points) result in five patients. CONCLUSIONS: Nearly three quarters of our cohort (n=17) presented with classic virilising form of 21-hydroxylase deficiency. Only four (25%) patients experienced a salt-losing crisis. Female gender assignment at birth was maintained for all individuals in this group. 'Good' and 'satisfactory' outcomes of surgery were reported in nearly all participants.

Hitching the gallbladder in laparoscopic-assisted cholecysto-cholangiography: a simple technique.

Neonatal cholestatic disorder in the late neonatal period requires often cholangiography to differentiate between biliary atresia and other causes of prolonged neonatal jaundice. A simplified method of a laparoscopic-assisted cholecysto-cholangiography is presented. Retrospective chart review was conducted of all patients who from May 2002 to April 2012 underwent a laparoscopic-assisted cholecysto-cholangiography with routine fixation of the fundus of the gallbladder to the lateral aspect of the abdominal wall. A total of 18 infants (8 boys) aged 41-104 (median 64) days underwent laparoscopic-assisted cholecysto-cholangiography for prolonged jaundice. The technique identified ten cases of a patent bile duct system and eight biliary atresias. (Thirty-two cases of suspected biliary atresia were confirmed by laparoscopy alone.) Two cases required suturing of a bile leak at the puncture site. Hitching the gallbladder to the lateral abdominal wall is a simple method allowing an optimal radiographic assessment of the extra- and intra-hepatic bile duct anatomy.

Preoperative endoscopic retrograde cholangiopancreatographic treatment of complicated choledochal cysts in children: a retrospective case series.

We report our experience with endoscopic retrograde cholangiopancreatography-(ERCP-)based interventions in children with complicated choledochal cysts that are refractory to conservative management. Between 1999 and 2006, 42 children (12 boys, 30 girls; median age 3 years, range 2-14.5 years) were admitted for surgical treatment of choledochal cysts. Seven of these patients (16.7%; one boy, six girls; median age 3 years, range 2-12 years) showed signs of complicated choledochal cysts, and presented with pancreatitis/cholangitis (n = 4) and obstructive jaundice (n = 3). The anatomical classification of the cysts was type Ic (n = 3), type If (n = 3), and type IV (n = 1). ERCP was successfully performed in 6/7 patients, and therapeutic interventions included removal of debris (n = 3), sphincterotomy (n = 3), and stent placement (n = 4). One patient required blood transfusion for post-sphincterotomy bleeding. The patient in whom the ERCP failed underwent ultrasound-guided percutaneous transhepatic biliary drainage. Definitive surgery was performed after a median interval of 10 days (range 7-68 days) after the ERCP intervention.

Novel heterocyclic analogues of the new potent class of calcium entry blockers: 1-[[4-(aminoalkoxy)phenyl]sulfonyl]indolizines.

Several heterocyclic analogues of the potent 1-[[4-(aminoalkoxy)phenyl]sulfonyl]indolizines were synthesized and evaluated for their antagonistic calcium activities in comparison with the 1-sulfonylindolizine SR 33557 and the usual calcium antagonist references verapamil, cis-(+)-diltiazem, and nifedipine. The bicyclic nine-membered rings were, in general, more potent than the bicyclic 10-membered or five-membered rings. Among the bicyclic nine-membered rings, the indole nucleus appeared to be extremely favorable to support the calcium antagonistic activity. In particular, compound 36, with an IC50 value for the inhibition of [3H]nitrendipine equal to 0.072 nM, is among the most potent calcium antagonist known. This compound has been selected for clinical development.

Congenital hypertrophic pyloric stenosis with associated polyhydramnios in a premature infant.

Congenital pyloric stenosis is rare in premature infants. This is a report of pyloric stenosis in a premature infant (35 weeks gestation) discovered on the 2nd day of life. There appears to be an association with polyhydramnios. Congenital hypertrophic pyloric stenosis should be considered in the differential diagnosis of premature infants with upper gastrointestinal symptoms. A review of the literature is included.

Segmental infarction of the omentum: a difficult diagnosis.

Segmental infarction of the greater omentum is a rare diagnosis. This report describes a case of omental torsion in an eight-year-old boy. The report assesses the predisposing factors, the classification and the place of ultrasonography.

Diagnosing hypertrophic pyloric stenosis: does size matter?

This retrospective study examines the size of the pyloric tumour at the time of surgery in 100 patients (76 boys, 24 girls) operated over a 2.75 years period from June 1993 to March 1996. The size of the pyloric tumour was classified into one of three categories (short, moderate or large) by the operating consultant and documented in the operation note. This study supports the view that the pyloric tumour increases in size with the progressing age of a baby. Nowadays the diagnosis of hypertrophic pyloric stenosis (HPS) is made on average 2 weeks earlier than in a similar study 4 decades ago. Two thirds of the patients in the subgroup with short- and moderate-size pyloric tumours did not require any imaging technique to arrive at the diagnosis. Unexpectedly a more frequent use of imaging techniques was required in the subgroup of large pyloric tumours; large tumours tend to present as an ill-defined fullness in the right upper quadrant rather than a distinct olive.

Malaria prevalence in north-eastern Nigeria: a cross-sectional study.

OBJECTIVE: To assess the prevalence of malaria parasitemia in north-east Nigeria and to evaluate the measures for the prevention of malaria. METHODS: A village in north-eastern Nigeria was selected for the cross sectional study at the height of the rainy season in October 2011. A total of 550 inhabitants of a hamlet were recruited for this study. After obtaining the consent individuals received a structured interview and were tested for malaria parasites in their blood films. Recruits testing positive for malaria were given a course of artemesinin-based combination therapy (ACT). RESULTS: A total of 497 inhabitants representing approximately 90 percent of the population participated: a quarter of the study group carried malaria parasitesexclusively Plasmodium falciparum(P. falciparum)-representing a P. falciparum parasite rate (PfPR) of 24.5%. Besides, 53/138 in the age group of 2 to < 10 years old children tested positive for P. falciparum representing a PfPR2-10 value of 38.4%. Malaria control measures were used in just under a third (157/497) of this cohort. Despite these measures 28/157 (17.8%) still tested positive for P. falciparum. CONCLUSIONS: The malaria burden is overestimated for this region in north-east Nigeria. The findings support an intermediate pattern of malaria endemicity. The 30% bed nets coverage for malaria control is well below the WHO estimates for 2011.

Under pressure: a contribution to the pathogenesis of acquired ileal atresia.

An acquired ileal atresia is a rare occurrence. A 3-week-old neonate is presented, who developed postnatally a type 2 ileal atresia and an ileal stenosis within a pre-existing internal hernia secondary to an adhesion band. The literature reports a total of eight cases (4 females) with acquired ileal atresia in babies ranging in age from 3 weeks to 2 years (median 4 months). Mechanical forces (eg, adhesion band, intussusception and volvulus) onto the intestine are most frequently (75%) implicated as the primary event. The distal ileum is most often affected and a type 3A atresia is identified in six of eight (75%) cases.

Current status of prenatal diagnosis, operative management and outcome of esophageal atresia/tracheo-esophageal fistula.

Ultrasonographic features suggestive of esophageal atresia with or without tracheo-esophageal fistula (EA/TEF) are only in a small minority of fetuses with EA/TEF (<10%) identifiable on prenatal scans.The prenatal diagnosis of EA/TEF relies in principle, on two nonspecific signs: polyhydramnios and absent or small stomach bubble. Polyhydramnios is associated with a wide range of fetal abnormalities, but most commonly it pursues a benign course. Similarly the sonographic absence of a stomach bubble may point to a variety of fetal anomalies.The combination of polyhydramnios and absent stomach bubble in two small series offers a modest positive predictive value of 44 and 56% respectively. Prenatal scanning for EA/TEF identifies a larger proportion of fetuses with Edwards syndrome; there is also a higher proportion of isolated EA in comparison to postnatal studies.Current ultrasound technology does not allow for a definite diagnosis of EA/TEF and therefore, counseling of parents should be guarded.Postnatal diagnosis of EA is confirmed by the failure to pass a firm nasogastric tube into the stomach; on chest X-ray, the tube is seen curling in the upper esophageal pouch. Corrective surgery for EA/TEF is well established and survival rates of over 90% can be expected.

Exomphalos major suspension: a novel technique.

A 38-week gestation female neonate with an antenatally diagnosed exomphalos major was born with respiratory insufficiency requiring initially high frequency oscillation, nitric oxide and inotropic support. The exomphalos was vertically stabilized by means of a novel technique prior to the application of a silo and formal closure. The technique is described and compared with others.

Antenatal ovarian torsion: a "free-floating" cyst.

This case report documents the unusual presentation of an antenatal ovarian torsion followed by auto-amputation of the ovarian tube complex, finally resulting in a free floating abdominal cyst. The differential diagnosis of antenatally diagnosed abdominal cysts is discussed and the surgical management outlined.

Inflammatory myofibroblastic tumor of the bladder in children: what can be expected?

Inflammatory myofibroblastic tumor of the bladder is an uncommon condition of unknown neoplastic potential. In adults the tumor is seen in association with instrumentation of the lower genitourinary tract, while in children it appears to run an idiopathic course. Its clinical and radiological presentation in children resembles sarcoma. The case of a 10-year-old girl with inflammatory myofibroblastic tumor is presented, outlining the histological and immunhistochemical features to allow differentiation between sarcomas, the most important differential diagnosis. An outcome meta-analysis of the literature identified 35 cases of inflammatory myofibroblastic tumor in the bladder of children. Conservative surgery is the strategy of choice. There is no evidence of recurrence or metastasis at a median follow up of 1.5 years.

Malrotation volvulus in a neonate: a novel surgical approach.

A newborn presented with bilious vomiting secondary to a malrotation and presumed perinatal-onset volvulus. Laparotomy was performed at 20 h of age at which the volvulus was derotated. Nevertheless the small but not the large bowel appeared to be completely ischaemic and non-viable. A second-look laparotomy was performed 24 h later with no significant improvement. In a new approach to the problem, nothing further was done and the child was left alone on parenteral nutrition and naso-gastric aspiration for 11 weeks. Further exploration showed that 40 cm of small bowel had survived intact and restorative surgery was carried out. Parenteral nutrition was discontinued after 9 months and the child, now aged 3.5 years, is thriving.

A hepaticojejunostomy: technical errors with 'twists and turns'.

Excision of a choledochal cyst followed by biliary reconstruction with a Roux-en-Y hepaticojejunostomy is the treatment of choice for type I and IV choledochal cysts. We present a rare complication which was identified 8 years after the original reconstructive surgery. Conventional imaging modalities failed to identify the pathology. Only a contrast enhanced CT scan supported by image rendering software allowed for the visualization of the underlying chronic obstruction of part of the mesentery.

Jejunal blind loop 10 years after neonatal necrotizing enterocolitis.

A 10-year-old girl presented with abdominal distension and vomiting due to a jejunojejunal bowel fistula, forming a blind loop. This was related to neonatal necrotizing enterocolitis (NEC) in her first few weeks of life, which was followed by apparently a full recovery. We would like to raise awareness of possible long-term gastrointestinal sequelae in children who have had NEC.

Outcome analysis of pyeloplasty in infants.

The study examined the outcome of pyeloplasties done for decompensated ureteropelvic junction (UPJ) obstruction in infancy over a 13-year period. In a retrospective study, 186 children who underwent pyeloplasty in infancy were analysed with particular emphasis on the pre- and postoperative findings of 123I hippuran scintigraphy/diuretic renograms. The pre- and postoperative management is outlined in detail. The 186 patients underwent a total of 203 pyeloplasties during the period from January 1983 to 31 December 1996. Three children died; one required a nephrectomy. The postoperative scintigrapic results of 156 children (85%) done about 12 months after surgery were available for evaluation: 101 (64%) showed stable renal function and 43 (27%) revealed more than 5% improvement of renal function. In 12 cases (7%) renal function deteriorated after pyeloplasty by more than 5% compared to the preoperative scintigram. It is concluded that pyeloplasty in infants is a low-risk procedure. The encouraging results of this series support early correction of UPJ obstruction.