Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.

We present a family with three affected males in two generations with congenital neurogenic chronic idiopathic intestinal pseudo-obstruction (CIIP), patent ductus arteriosus, and large platelet thrombocytopenia apparently segregating as an X linked recessive disorder. The pattern of segregation of DNA markers within the family is consistent with linkage to the previously described neurogenic CIIP (CIIPX) locus at Xq28. This combination may represent a new contiguous gene disorder and appears to have a good prognosis with supportive therapy.

Skull fractures in children: a population study.

OBJECTIVE: To provide information about children with a skull fracture in the Edinburgh area, since head injury is the single most important traumatic cause of death in children over 1 year of age. METHODS: During the period January 1983 to December 1989, all children in the Edinburgh area under 13 years of age who sustained a skull fracture were identified. Details of the children who died primarily from a head injury, and the total number of children who were admitted to hospital with a head injury not associated with a skull fracture, were also documented. Data were obtained from the General Register Office for Scotland, Edinburgh Fiscal Office records, and Lothian Health Board records. Data on cause of injury and clinical condition were obtained. RESULTS: 3498 children under 13 years of age were admitted to hospital after sustaining a head injury and 27 died primarily as a result of their injuries; 409 children had a skull fracture and 76 of this group had cranial CT scans. Nineteen of the CT scans performed were on children who had been admitted to hospital in a coma, and all had abnormal scan findings. In addition all children with intracerebral haematomas/haemorrhages had been admitted in a coma. Road traffic accidents accounted for the greatest number of deaths (84%), associated injuries, and overall morbidity. CONCLUSIONS: To reduce the incidence of head injuries, and the associated morbidity and mortality, the following are required: identify at risk groups; promote accident prevention; publicise the findings and guidelines concerning childhood head injuries; ensure that all children with head injuries have appropriate investigations and begin treatment as early as possible; establish clinical audit; and set up regional rehabilitation teams.

Distal penile lymphoedema following hypospadias repair: a case report.

A patient who developed isolated distal penile lymphoedema 10 years following hypospadias repair is reported. The classification and causes of genital lymphoedema and possible reasons for its occurrence in this case are discussed.

A simple alternative to circumcision.

Circumcision is overperformed in the United Kingdom. An alternative procedure, dorsal incision of the prepuce, was performed in 40 boys whose foreskins were nonretractable and showed a tight preputial band on retraction at operation with no scarring. The procedure was quick, simple, and effective at producing a retractable foreskin. A good cosmetic result was achieved. There were no complications in this group of patients. The procedure is recommended as an alternative to circumcision.

Extrarenal Wilms' tumour presenting with intraperitoneal haemorrhage.

Extrarenal Wilms' tumours are very rare and have usually been reported as isolated cases. Presentation occurs with a painless abdominal mass. This case report is the first presentation of such a tumour with intraperitoneal haemorrhage. The investigation and surgical management are discussed and the need for urgent surgical assessment reinforced.

Skull fractures in children: altered conscious level is the main indication for urgent CT scanning.

It has been suggested that all children with skull fractures require urgent CT scanning to exclude intracranial injury. Adhering to such a policy could both tax limited scanning facilities and result in unnecessary exposure to radiation. The aim of this study is to assess the level of consciousness in determining the need for urgent CT scanning, and the possible role of the mechanism of injury as a secondary risk factor. We identified 140 children admitted during a 7-year period with a skull fracture after falling outside the home. Thirteen children had a diminished level of consciousness. Scans were performed in nine, and seven of the scans revealed significant intracranial injuries. By comparison, all 127 children with a normal level of consciousness recovered fully. Scanning was performed in only eight of them; seven scans were normal and one revealed a small subarachnoid heamorrhage which did not require active treatment. In addition, all 13 children with a diminished level of consciousness had sustained their injuries by falling from greater than their own standing height. By comparison, none of the children who had sustained their skull fractures by tripping up had a diminished level of consciousness or a significant intracranial injury. We conclude that all children with a diminished level of consciousness need to undergo an urgent CT scan. Children with skull fractures and a normal conscious level may be managed initially by neuroobservations and the clinician may be further reassured if the child's injury resulted from tripping up.

Out of hospital needlestick injuries.

Retrospective analysis showed that 67 children had presented in Edinburgh with needlestick injuries on 70 occasions over five years. Worryingly, 10 children sustained injuries pretending to be intravenous drug abusers. Despite risks of hepatitis B and HIV infection, protection and follow up were inadequate. Publicity about discarded needles and a treatment plan for use in accident and emergency departments are recommended.

Anorectal myotomy combined with anterior resection in the treatment of Hirschsprung's disease.

A total of 42 patients with biopsy-proven Hirschsprung's disease were treated by anorectal myotomy or myectomy, alone or combined with anterior resection. Myotomy is a simple and complication-free procedure. The results compare favourably with those of other operative procedures for this condition.

The management of penile zip entrapment in children.

Thirty boys, aged 2-12 years, presented with penile zip entrapment to one Paediatric Accident and Emergency Department over a 7 year period. The rate of presentation was one zip entrapment per 4068 new patient attendances. In contrast to previous reports, injuries occurred most commonly whilst the zip was being done up and whilst underpants were being worn. Two types of entrapment were seen, determining the way in which release was achieved. Contrary to previous suggestions, most children (26 out of 30) were easily managed in the Accident and Emergency Department without general anaesthetic. No patient required circumcision or suffered any sequelae. An algorithm for treatment based upon the experience of this study is presented.

Pilomatrixoma as a diagnostic problem: the Edinburgh experience.

The purpose of this retrospective study was to review the paediatric experience in Edinburgh of a relatively benign skin tumour. The study group consisted of children less than 13 years of age with a pathological diagnosis of pilomatrixoma over the period between January 1980 and December 1989. The results reaffirmed a female preponderance. The majority of lesions had been present for less than 1 year at the time of removal but were mainly misdiagnosed at the time of primary consultation or at removal. Although pilomatrixoma has a 'typical' appearance pathologically there are problems with preoperative diagnosis. Sites of occurrence are comparable with the dermoid type of cyst and the possibility must be considered of an embryological origin for pilomatrixoma.

Management of foreskin problems.

One hundred consecutive cases of boys with foreskin problems referred to local paediatric surgeons in the Edinburgh area were studied. Fifty five underwent circumcision and the remainder were managed more conservatively with or without the use of local or general anaesthetic. Although sometimes avoiding general anaesthetic, the more conservative methods involved more frequent visits to the clinic, a larger number of complications, and a longer follow up period. Despite the vogue for conservatism, circumcision still has an important part to play in the management of troublesome foreskins in children.

Microbiological studies of the enterocolitis of Hirschsprung's disease.

The results of a prospective study of 20 cases of newly diagnosed Hirschsprung's disease (nine of whom developed enterocolitis) and 10 normal controls showed no variations in the bacterial flora (including Clostridium difficile) in the stools of the groups studied. Viral studies showed that rotavirus was present in the stools of seven of the nine cases of enterocolitis during the episode. We suggest that Hirschsprung's enterocolitis may have a complex infective aetiology and that rotavirus plays a part.

Repair of coronal and subcoronal hypospadias: an 8-year retrospective study.

Twenty-three patients undergoing treatment for coronal and subcoronal hypospadias over an 8-year period were reviewed. A ventral skin tube inlay graft was used in all cases, and a comparison made between Nesbitt's button hole technique and three other procedures used for ventral skin cover. The button hole procedure was associated with fewer fistulae and provided acceptable cosmesis.