Congenital para-oesophageal hiatal hernia in infancy.

Congenital para-oesophageal hiatal hernia (PEHH) is a rare problem in infancy, however, it constitutes a clinical entity that mandates surgical repair once the diagnosis is made. In the paediatric age group, acquired PEHH has been described as a major complication in a number of patients who were treated surgically for gastro-oesophageal reflux (GER) by Nissen fundoplication. PEHH is a frequently encountered condition in elderly patients; it accounts for 5% of diaphragmatic hiatal hernias. In both paediatric and adult patients PEHH, whether congenital or acquired in origin, is usually associated with potentially lethal complications such as gastric volvulus, incarceration, and perforation. In clinical practice true PEHH is extremely rare. The term has been expanded to include large gastric hiatal hernias where most of the stomach and the gastro-oesophageal junction are in the chest. Six infants with congenital PEHH are presented, together with an attempt to understand its possible aetiology and a review of its current surgical management.

Fetal rhabdomyoma. A case report with the diagnosis suggested by intraoperative cytology.

BACKGROUND: Fetal rhabdomyoma is a relatively rare tumor that occurs mainly in the head and neck of toddlers. A similar lesion can occasionally be found in the adult female genital tract. Increased cellularity may be seen in the fetal type and can lead to confusion with the well-differentiated types of rhabdomyosarcoma. CASE: An 8-day-old infant presented with a unilateral, right-sided, postauricular mass. Intraoperative cytology of the mass showed numerous cells with spindled nuclei in a background of myxoid material. A provisional diagnosis of fetal rhabdomyoma was made and subsequently confirmed by histopathologic examination. CONCLUSION: In neonates presenting with cervical swelling, the possibility of fetal rhabdomyoma should always be considered and confirmed by both intraoperative cytology and histopathologic examination of the resected tumor.

Sex reassignment: A challenging problem - current medical and islamic guidelines.

Sexual ambiguity is a complex and often confusing medical problem. In addition to the life-threatening adrenal crises which may accompany some forms, ambiguity of the genitalia may lead to incorrect sex assignment by parents and/or health personnel. Children who present to medical attention beyond the neonatal period constitute a challenging problem due to the grave consequences of this condition. Thirty cases in whom sex reassignment was indicated were seen at King Khalid University Hospital, Riyadh, over a 10-year period. Of these, 27 (90%) were genetic females (20 were 21- and seven were 11-hydroxylase deficient) and three (10%) were genetic males (two partial androgen insensitive and one 5alpha-reductase deficient). All genetic males who were incorrectly assigned as females accepted reassignment. But 9 out of 27 (33%) of the genetic females who were incorrectly assigned as males refused reassignment. Preference for male sex assignment, delayed diagnosis and sociocultural circumstances seem to be the contributing factors for refusal. A national consensus about this important issue strengthened by the existing religious recommendations in demanded.

Congenital adrenal hyperplasia in a referral hospital in Saudi Arabia: Epidemiology, pattern and clinical presentation.

Eighty-two children (30 males and 52 females) with congenital adrenal hyperplasia (CAH) were seen at King Khalid University Hospital (KKUH) over a 10-year period. Of these, 74 (90.2%) were Saudis and eight (9.8%) non-Saudis. Fifty-nine (72%) patients were 21-hydroxylase deficient. Of these, 56 (95%) had variable degrees of salt depletion. Nineteen (23.2%) patients had a deficiency of 11-ss-hydroxylase enzyme and four (4.8%) showed deficiency of 3-ss-hydroxysteroid dehydrogenase. The consanguinity rate was high (71.2%) and positive family history was documented in 45.8%. Thirty-nine infants deaths occurred within 25 families. The diagnosis was often delayed. Of the 52 females, 27 (52%) were initially assigned male sex. These results indicate the importance of physicians' awareness and the need for a neonatal screening program for early detection and appropriate management.

The management of esophageal strictures in children.

During a 10-year period from 1982 to 1992, 36 children and infants were treated for esophageal stricture. The severity of the stricture was indicated by the degree of feeding intolerance manifested by delays in growth and development and confirmed by fluoroscopy and endoscopy. Their ages ranged from one month to seven years. During the first eight years, the initial treatment was the conventional use of Savory dilators. Balloon dilatation was applied in all patients with esophageal stricture during the last two years. According to the etiology of the stricture, patients were divided into three groups. Group A: (seven patients) due to peptic esophagitis following persistent gastroesophageal reflux (GER). Group B: (15 patients) following ingestion of corrosive material. All had severe strictures; two had stomach outlet obstruction in addition. Group C: (14 patients) following repair of esophageal atresia. There was no mortality; however, overall morbidity was 5.5%, as one patient had esophageal perforation during the initial esophageal dilatation and one patient developed anastomotic leak.

Spontaneous oesophageal perforation in a newborn.

A case of spontaneous cervical oesophageal perforation forming a pseudodiverticulum in a 3.6 kg. neonate who presented with poor sucking and fever, is reported. The diagnosis was confirmed by chest x-ray. 83 reported cases of transoesophageal perforation were reviewed, pseudodiverticulum of the oesophagus was documented in 9 cases only; of the 83 reported cases, 14 had spontaneous oesophageal perforation.