Association of colonic atresia and Hirschsprung's disease in the newborn: report of a new case and review of the literature.

Colonic atresia (CA) is an infrequent cause of lower gastrointestinal obstruction in the neonate. Coexistence with aganglionosis of the colon (Hirschsprung's disease) has been reported but is generally not recognized in the neonatal period. We report another case and present a review of the literature. A boy with a lower gastrointestinal obstruction, caused by a CA type III, had creation of a proximal colostomy and a distal mucous fistula on the 1st day of life. In the preoperative work-up before restoring the continuity, rectal suction biopsies revealed the presence of Hirschsprung's disease. When the boy was 6 months old, a distal colectomy and reanastomosis were done. Creation of a colostomy and reanastomosis in a second procedure is recommended for treating a type III CA unless distal aganglionosis has been ruled out.

Proteus syndrome: MRI characteristics of plantar cerebriform hyperplasia.

Proteus syndrome is a rare congenital hamartomatous syndrome with a variety of abnormalities. It shares many features with other congenital hamartomatous disorders, but cerebriform hyperplasia of the soles and the palms is known as a quite distinctive characteristic in the dermatologic literature. The purpose of this case report is to demonstrate the MRI features of plantar cerebriform hyperplasia in a 9-year-old boy with known Proteus syndrome.

Radiographic manifestations of intestinal obstruction in the newborn.

Intestinal obstruction in the newborn infant may be due to a variety of conditions, including atresia and stenosis, annular pancreas, malrotation, duplication cyst, meconium ileus, meconium plug syndrome and neonatal small left colon syndrome, and Hirschsprung's disease. Neonates with unrecognised intestinal obstruction deteriorate rapidly, show an increase of associated morbidity and appropriate surgical treatment becomes more hazardous. Early diagnosis depends largely on the prompt detection of obstructive manifestations by the clinician and the subsequent accurate interpretation of radiographic findings by the radiologist. Plain film of the abdomen is often helpful in determining the level of obstruction and usually dictates, together with clinical symptoms, the choice of the contrast study firstly to perform. In this article we will review the clinical and radiological signs of different pathological conditions causing intestinal obstruction in the newborn.

Frantz's tumour of the pancreas presenting as a post-traumatic pancreatic pseudocyst.

A case of a solid, pseudopapillary and cystic tumour of the pancreas in a 13-year-old girl was presented. Shortly after a blunt abdominal trauma, an abdominal mass became manifest. Clinical features and radiological findings suggested a traumatic pseudocyst of the pancreas. Laparotomy and pathology revealed a Frantz's tumour, which was totally resected. Twelve months after surgery the patient is asymptomatic and CT-scan shows no signs of recurrence or metastasis. To our knowledge, no such acute presentation has ever been described in the literature since the first clinical report of this tumour in 1959.

Prevention of vertical transmission of hepatitis B virus infection. Is there a standard policy in Flanders (Belgium)?

The perinatal transmission of hepatitis B virus (HBV) from mother to child can be effectively prevented by the combined administration of hepatitis B immunoglobulins (HBIg) and hepatitis B vaccine (HB vaccine) immediately after birth. This requires prenatal screening of all pregnant women for HBsAg. In Belgium, a standard prevention policy does not exist. This study evaluated the current prevention policy of paediatricians in Flanders, regarding the prevention of vertical transmission of HBV, and their knowledge regarding the reimbursement of the HB vaccine for neonates of HBsAg-positive mothers. Ninety-one percent out of 134 participants administered both HBIg and HB vaccine. The recommended timing, within 12 hours post-partum, was observed in 60.0% for HBIg and in 50.3% for HB vaccine. Twenty-five percent of the respondents answered not to be well informed regarding the reimbursement of the HB vaccine. A preliminary study in Flanders among gynaecologists showed that 27 out of 29 routinely screened pregnant women for HBV, but the type of serology tested and the timing of this prenatal screening were very heterogeneous. We conclude that a standard policy regarding the prevention of vertical transmission of HBV is currently lacking in Flanders.

Mucosal proctectomy and colo-anal anastomosis as treatment of rectal atresia.

Rectal atresia is a rare condition in which the anus and sphincter muscles are normally developed. Therefore it seems logical to preserve those structures unaltered during surgical therapy. Mucosal proctectomy and colo-anal anastomosis is a safe, technically well known technique that achieves this goal.

Inadequate intravenous feeding in sick neonates: a retrospective study.

It is a common experience that during intravenous feeding (IVF) in neonates the administered amounts do not always meet the recommendations. In an attempt to quantify these deficits and to determine the causes we studied the data of 2 comparable groups of neonates admitted to a neonatal intensive care unit (NICU). In Group 1 (N = 107; gestational age 25-42 weeks; birth weight 690-5920 g) the minimum recommended intake of energy (70 kCal/kg/d) and of aminoacids (2.5g/kg/d) was not met in 17% and in 71% respectively. The main causes of inadequate intake were believed to be the nearly exclusive use of peripheral venous access, and the restriction in glucose and/or lipid administration because of extreme prematurity and/or severe illness. In Group 2 (N = 99; gestational age 24-42 weeks; birth weight 670-4300 g), where these causes were corrected, 11% and 54% of the patients still received an insufficient amount of energy and amino acids respectively. It can be concluded that in the daily practice in a NICU, even in optimal conditions and following the recent recommendations for IVF, a considerable proportion of preterm neonates do not receive the minimal recommended amount of energy and aminoacids.

Diagnosis of Sjögren's syndrome in children.

We treated four children with clinical symptoms and laboratory findings suggestive of Sjögren's syndrome (SS). We also review the findings in 23 children with the diagnosis of SS whose cases were reported in the literature. We propose that the following criteria for the diagnosis of SS, which are mostly used in adults, should also be applied to children: (1) keratoconjunctivitis evidenced by a Schirmer test and a quantitative rose bengal test; (2) xerostomia shown by a decreased basal and stimulated salivary flow; (3) lymphocytic infiltration in a minor salivary gland biopsy specimen with at least two foci per 4 mm2; (4) laboratory evidence of a systemic autoimmune disorder on the basis of a rheumatoid factor of 1/160 or greater, antinuclear antibody of 1/160 or greater, or extractable nuclear antigen antibodies. Only close observation and long-term follow-up of these patients will allow a better insight in the natural history of SS in children. Those children who do not fulfill these diagnostic criteria also need close and prolonged follow-up study: one of the possibilities is that their conditions will ultimately evolve toward definite SS.

Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood.

The clinical, biochemical, and histological features of 27 children with syndromic paucity of the interlobular bile ducts are described. All presented in the first 5 months of life, 21 with jaundice, two with spontaneous bleeding due to vitamin K malabsorption in addition to jaundice, two with pruritus, and two with failure to thrive. Interlobular bile ducts were abundant in liver biopsies from five (18% of cases) in the first 6 months of life. The degree of portal fibrosis and cellular infiltrate was mild in all except three patients. Clinically significant heart lesions occurred in 52% but only 22% had peripheral pulmonary stenosis. Characteristic facial appearances were present in only 70%; embryotoxon and vertebral anomalies were present in 56 and 33%, respectively. Two infants died of cardiovascular complications, one of alimentary bleeding and one of progressive liver disease. Complications of vitamin K deficiency occurred in 15%, vitamin D deficiency in 30%, and vitamin E deficiency in 37%. Survivors at ages of 19 months to 16.5 years had considerable morbidity with pruritus occurring in 70%, jaundice in 48%, xanthomas in 30%, 74% having hepatomegaly and 63% splenomegaly. All had abnormal biochemical tests of liver function, 90% had growth retardation, and 50% developmental delay. We conclude that differentiation from extrahepatic biliary atresia can be difficult if biliary flow cannot be demonstrated. Prevention of fat-soluble vitamin deficiency is essential. Further research is required to decrease the morbidity associated with this syndrome in infancy.

Idiopathic cerebral arterial infarction with paucity of symptoms in the full-term neonate.

Two full-term neonates, one with convulsions and intermittent generalized hypotonia and one with poor sucking, temperature instability, and lethargy, are reported. CT scan findings suggested cerebral arterial infarction. Arteriography revealed occlusion of the middle cerebral artery, unilaterally in the first and bilaterally in the second patient. The evolution of the infarct could be followed on serial CT scans. No predisposing factors during pregnancy or delivery were found, and serious neurologic deficits developed in both children. These cases demonstrate that, even in full-term neonates with discrete or moderate neurologic symptoms and born after normal pregnancy and delivery, the possibility of vasoocclusive brain infarction should be considered. The diagnosis is suggested by imaging techniques, of which CT scanning seems to have the greatest value at present. This technique also permits the follow-up of the lesions. The prognosis for neurologic development appears to be variable: minor neurologic deficits as well as unexplained spastic hemiplegia in older children may be the consequence of inapparent cerebral arterial infarction in the neonatal period.

Increased serum prolactin but normal TSH during prolonged domperidone treatment in children.

The influence of the dopamine receptor blocking agent domperidone on prolactin and TSH secretion was studied in 16 infants, aged 10-360 days, who were treated for gastroesophageal reflux. The pretreatment serum prolactin levels were not statistically different from the levels in age-matched controls and showed the well-known inverse relationship with age. During treatment with domperidone a significant increase in prolactin level was observed on days 1, 4 and 21-28, the mean values on these three days not being statistically different. No correlation could be found between the serum prolactin levels and the corresponding plasma domperidone levels. One infant of this series and three not included in this series developed reversible breast hypertrophy with galactorrhoea in three of them: in none of them was the prolactin level, corrected for age, above 1 SD of the mean. All had received relatively high doses of domperidone. In 13 patients domperidone did not influence TSH secretion.

Intractable diarrhea in histiocytosis-X.

In an infant with fatal disseminated histiocytosis-X, intractable diarrhea was the initial symptom and remained prominent during the further course of the disease. Intestinal biopsy revealed extensive histiocytic infiltration of the lamina propria. Although involvement of the gastrointestinal tract, mostly with diarrhea, is probably not unusual in generalized histiocytosis-X, this fact is rarely mentioned in the literature. Intractable diarrhea as a major symptom of this disease has not yet been described.

Simultaneous determination of p-aminobenzoic acid, acetyl-p-aminobenzoic acid and p-aminohippuric acid in serum and urine by capillary gas chromatography with use of a nitrogen-phosphorus detector.

In various studies during recent years, the use of p-aminobenzoic acid has been described in screening tests for exocrine pancreatic function. A synthetic three-unit compound N-benzoyl-L-tyrosyl-p-aminobenzoic acid has been administered orally and hydrolysed in the small intestine in the presence of chymotrypsin to N-benzoyl-L-tyrosine and p-aminobenzoic acid. This study describes a convenient procedure in which, after a selective extraction and derivatization with diazomethane, capillary gas chromatography is used combined with nitrogen-sensitive detection. With the proposed procedure, p-aminobenzoic acid and its major metabolites, acetyl-p-aminobenzoic acid and p-aminohippuric acid, can be monitored in serum and in urine samples.