Case of congenital short small intestine: survival with use of long-term parenteral feeding.

Isolated congenital short small intestine is a rare anomaly. Of six (one male, five females) previously reported cases, four died in infancy from intractable diarrhea. We report the case of 7-year-old boy with this syndrome in whom a 2-year period of parenteral feeding at home allowed normal weight gain, growth, and development while intestinal adaptation occurred. Parenteral feeding was discontinued at age 2 1/3 years, and for the past 5 years his weight has remained between the tenth and 25th percentiles and his stature between the 25th and 50th percentiles. His development has been normal and he functions at or above grade level at school. Coefficient of fat absorption has increased from 54% to 81%. Vitamin B12 absorption has improved but has not normalized. He remains lactose intolerant. We believe his survival, growth, and development would have been compromised if he had not received a prolonged period of parenteral feeding.

VIP secreting tumours in infancy. A review of radiological appearances.

Vasoactive intestinal polypeptide (VIP) secreting neural crest tumours are an uncommon but important treatable cause of intractable childhood diarrhoea. The radiological appearances of two cases are presented with a review of radiological findings in childhood VIP secreting neural crest tumours. Twenty eight cases of childhood VIP secreting neural crest tumours were reviewed. Nineteen (68%) were ganglioneuroblastomas and nine (32%) were ganglioneuromas. The majority of tumours (66%) were in a paravertebral location in the abdomen indicating that a search for such a tumour should be initiated at this site. Eighteen of the twenty-eight cases reviewed discussed relevant radiological investigations. Calcification was detected in 50% of abdominal radiographs. Gut dilatation was often a prominent feature. A mass was detected in 5 of 5 cases where ultrasound findings were reported, and seven of seven cases with CT findings reported. Prior to the availability of CT and ultrasound the most useful investigation was IVU which demonstrated evidence of a mass in 5 of 9 cases. The presence of paravertebral calcification and gut dilatation on the plain radiograph of a child with intractable diarrhoea suggests the presence of a VIP secreting neural crest tumour. If an abdominal tumour is not found in the appropriate clinical setting and VIP levels are elevated, a widespread search of the paravertebral region is indicated.

Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease.

We report the necropsy findings for three infants with the unusual combination of proximal renal tubular dysgenesis and severe congenital liver disease with excessive iron in several organs resembling neonatal hemochromatosis. Two of the infants were caucasian siblings and one was an Australian aborigine. One died in utero at 35 weeks of gestation and two died at 7 days. The liveborn infants presented with anuria and liver failure. The livers all showed marked loss of hepatocytes and replacement by pseudotubules in the collapsed lobules. The liveborn infants also showed giant cell transformation of hepatocytes, small regenerative nodules, cholestasis, and normal bile ducts. Absence of proximal renal convolutions was confirmed by epithelial membrane antigen positivity in nearly all tubules. In each family there was another sibling with congenital liver disease, fatal in one case, but no renal tubular dysgenesis. No infection or metabolic disease was uncovered in any of our patients, and the cause of the hepatocyte destruction was not determined. The combination in three infants of two rare congenital diseases could be genetic or acquired in utero from the same etiological agent. Alternatively, the absence of proximal convolutions could be secondary to hypoperfusion, perhaps because of shock due to extensive necrosis of hepatocytes.

Wilson's disease in childhood. A plea for increased awareness.

Wilson's disease, a hepatic-based metabolic disease, is treatable with a relatively good prognosis if diagnosed before severe complications occur. It has been diagnosed in eight children (five boys, three girls) in 11 years at our institution. The presenting symptoms were hepatic in four children, neurological in one and non-specific in one, whereas two children were asymptomatic siblings of index patients. The mean age at diagnosis was 8.9 years (range, 4.7-11.7 years). Two boys died soon after diagnosis: one had fulminating hepatic failure and the other, who had neurological disease, died of aspiration pneumonia. Six children are well, with regression of clinical disease, two to 10 years after the initiation of chelation therapy by mouth. The diagnosis was delayed for all symptomatic patients because of the disease's rarity, its nonspecific early manifestations and a low index of suspicion for the disease on the part of physicians.

Biochemical diagnosis of type 1b glycogen storage disease.

A child with the classical signs and symptoms of Type 1 glycogen storage disease is presented, who on investigation was shown to have a recently described variant of this disease known as Type 1b glycogen storage disease. A reliable and simple procedure for the diagnosis and differentiation of Types 1 and 1b glycogen storage disease is described, as the conventional diagnostic approach of assaying glucose-6-phosphate phosphohydrolase in frozen tissue will not diagnose Type 1b glycogen storage disease. A portion of biopsy tissue should be maintained at a temperature near 0 degrees C (but not frozen) and the remainder frozen. Glucose-6-phosphate phosphohydrolase assays are carried out on the tissue homogenates of both portions. In Type 1 glycogen storage disease, glucose-6-phosphate phosphohydrolase activity will be low or absent in both frozen and unfrozen tissues. In Type 1b glycogen storage disease the frozen tissue homogenate will exhibit normal glucose-6-phosphate phosphohydrolase activity due to the disruption of the microsomes by ice crystals, while in the unfrozen tissue low levels of glucose-6-phosphate phosphohydrolase activity will be detected.

Temporary wound closure with expanded polytetrafluoroethylene in pediatric liver transplantation.

A shortage of donor organs of appropriate size causes lengthy delays for many children awaiting liver transplantation, and results in the death of some children on the active waiting list. A major contribution to overcoming this problem has been the use of reduced livers from adult donors. However, reduced adult livers are frequently too large to be used for small pediatric recipients ( less than 8 kg) because of the serious problems which occur when too tight an abdominal closure is attempted. We report a technique which we have used successfully in 2 children, involving the insertion of a temporary patch graft of expanded polytetrafluoroethylene. This allowed comfortable abdominal wound closure, which would not otherwise have been possible. Delayed primary closure of the abdomen 4-5 days later was achieved without difficulty in each case, the liver grafts having decreased markedly in size by this time. The technique allows greater flexibility in the use of donor livers for pediatric recipients, and thus has the potential to reduce waiting times and deaths on the waiting list for small children requiring liver transplantation.

Improved survival in very short small bowel of infancy with use of long-term parenteral nutrition.

Thirteen children with very short small bowel (less than or equal to 38 cm jejunoileum) beginning in the first month of life were enrolled in a home parenteral nutrition program between 1977 and 1984. Their survival is compared with the collective reported experience with short bowel syndrome before 1972: nine (69%) of 13 have survived, compared with seven (23%) of 30 previously. Five discontinued parenteral nutrition after periods of 4 to 32 months of therapy, and have normal growth and development. Two still receive partial (50% and 60%) parenteral nutrition after 9 and 55 months, respectively, and two still receive total parenteral nutrition after 66 and 68 months of therapy, respectively; all four infants have grown normally, and three are developmentally normal. In the combined categories of 15 to 38 cm jejunoileum without the ileocecal valve and less than 15 cm jejunoileum with and without the ileocecal valve, seven (70%) of 10 have survived, compared with none (0%) of 16 before 1972; three of these discontinued parenteral nutrition. Ultimate survival with normal growth without parenteral nutrition is now possible with as little as 11 cm jejunoileum with an intact ileocecal valve and as little as 25 cm jejunoileum without an ileocecal valve.

Watery diarrhoea and a vasoactive intestinal peptide secreting ganglioneuroma.

A case of a 12-month-old child with chronic water diarrhoea, weight loss, abdominal distension, hypokalaemia and hypochlorhydria, which were associated with a vasoactive intestinal peptide secreting ganglioneuroma, is reported. Removal of the tumour led to complete clinical and biochemical recovery. Measurement of vasoactive intestinal peptide levels should be included in the evaluation of chronic diarrhoea after the more common causes have been ruled out.

SZ phenotype alpha-1-antitrypsin deficiency with paucity of the interlobular bile ducts.

A child is reported whose alpha-1-antitrypsin phenotype is SZ and who has chronic cholestatic liver disease that began in the neonatal period. Liver biopsy demonstrated paucity of the interlobular bile ducts, marked hepatocellular deposition in periportal areas of PAS-positive, diastase-resistant granules, and bridging portal fibrosis. The association of paucity of the interlobular bile ducts with SZ phenotype alpha-1-antitrypsin deficiency has not been reported previously.

The first five years' clinical experience of the Australian National Liver Transplantation Unit.

OBJECTIVE: To report the first five years' clinical experience of the Australian National Liver Transplant Unit. PATIENTS: Three hundred and seventy patients were referred--292 adults (79%) and 78 children (21%). The major causes of liver failure in the adults were chronic active hepatitis (25%), primary biliary cirrhosis (12%), primary sclerosing cholangitis (12%), alcoholic cirrhosis (9%) and malignancy (9%). Ten per cent of patients were referred in fulminant hepatic failure. In children, the major causes were biliary atresia (40%) and inborn errors in metabolism (27%). RESULTS: Two hundred and sixty-three patients (71%) were accepted for transplantation. Of 158 (43%) accepted for early transplantation, 22 (14%) died before a donor became available. Four hundred and forty-three suitable organ donors were referred. One hundred and twenty-six patients, including 32 children (25%), received 137 grafts. Three patients with renal failure due to hyperoxaluria type 1 received concurrent renal grafts. Ninety-two patients survived (73%). For all recipients, one-year survival was 75%. Two, three and four-year survivals were 69%. One to four-year survivals for adults with benign conditions were 77%, contrasting with results for those with hepatic malignancy (40% one-year survival). Children weighing more than 8 kg had good outcomes whether they received whole grafts or reduced-size grafts (83% one to five-year survival in both cases). Infants weighing less than 8 kg who received reduced adult grafts did significantly worse (37% one to-five year survival, P less than 0.05). Thirteen (87%) of 15 patients with fulminant hepatic failure who received grafts survived. Five of these patients were given ABO-incompatible grafts and two subsequently required retransplantation. All three patients with concurrent renal and hepatic grafts survived. Rehabilitation of survivors was excellent with 95% of adults and 100% of children pursuing normal activities. Only three grafts (2%) failed with primary non-function, all in infants because of graft infarction. Graft survival was significantly worse (P less than 0.01) in patients with a positive result to a direct cross match test against the donor. CONCLUSIONS: The need for liver transplantation in Australia is approximately eight per million of population per year. More donor offers are required to prevent deaths of patients on the waiting list. Reduced-size livers are successful for children and have alleviated considerably the critical shortage of paediatric donor livers. Successful treatment by liver transplantation can now be achieved in more than 80% of patients with non-malignant liver disorders including those with fulminant hepatic failure not responding to conservative therapy.

Congenital agastria.

Congenital agastria has never before been reported. Congenital microgastria is rare but is well documented. We have cared for a Melanesian child in whom there was no radiological, anatomical, or physiological evidence of either a rudimentary stomach or a pylorus. The esophagus joined the first part of the duodenum directly. At this esophago-duodenal junction there was microscopic evidence of fundic-type gastric mucosa. The intestine was normally rotated and there was a functioning spleen. The child also had a severe micrognathia and a cleft soft palate and required a tracheostomy to relieve upper airway obstruction. The combination of micrognathia and agastria presented a difficult nutritional delivery problem. A jejunal pouch was constructed and placed between the esophagus and duodenum to provide some storage capacity. The child grew and developed well for almost 3 years. He suffered three episodes of severe acute enteritis, probably related to lack of the protective acid-pepsin barrier against ingested microorganisms. Unfortunately, the third episode of acute enteritis caused his death 3 months after returning home to his own country.

Failure of liver transplantation in Wilson's disease with pulmonary arteriovenous shunting.

A 12-year-old boy with Wilson's disease developed exertional dyspnea, cyanosis, and finger clubbing 10 months after diagnosis. The hypoxemia was caused by arteriovenous shunting, demonstrated by radionuclide scanning and pulmonary arteriography. Orthotopic liver transplantation was performed after the development of severe hypoxemia. There was no apparent reversal of the intrapulmonary arteriovenous shunting and he died 10 days posttransplantation of multiple organ failure secondary to hypoxemia. Monitoring arterial oxygen saturation in children with cirrhosis is warranted since the presence of significant arteriovenous shunting may influence prognosis and decisions regarding liver transplantation.

Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program.

The use of the dried-blood immunoreactive-trypsin assay for the detection of cystic fibrosis in newborns has been questioned on the grounds that it may fail to identify patients with enough pancreatic function to have normal fat absorption. To investigate this possibility, we assessed pancreatic function in 78 patients identified in a neonatal screening program as having cystic fibrosis. The diagnosis of cystic fibrosis was confirmed by abnormal results on a sweat chloride test. The results of measurements of fecal fat excretion, pancreatic-stimulation tests, and estimations of the serum level of pancreatic isoamylase indicated that 29 of the 78 children (37 percent) had substantial preservation of pancreatic function. These children (median age, four years) had growth that was close to normal and comparable to growth in children with severe pancreatic insufficiency who received oral enzyme therapy. Pancreatic insufficiency subsequently developed in 6 of the 29 patients, at 3 to 36 months of age. We conclude that the serum immunoreactive-trypsin assay used in neonatal screening programs identifies patients with cystic fibrosis who have sufficient pancreatic function to have normal fat absorption and that a substantial proportion of infants identified as having cystic fibrosis are in this category.

Acute and subacute fulminant hepatic failure: the role of liver transplantation.

OBJECTIVES: To report the experience of the Australian National Liver Transplant Unit with patients with fulminant hepatic failure and to describe the role of liver transplantation. PATIENTS: Twenty-seven patients presented with acute or subacute fulminant hepatic failure during the period from January, 1986, to March, 1990. Twenty-two had acute and five had subacute fulminant hepatic failure. The causes were hepatitis B in 10 patients, presumed non-A, non-B (NANB) hepatitis in eight patients, drug-induced hepatic damage in five patients, and Wilson's disease in four patients. There were 13 males and 14 females. Ages were 2-43 years (mean, 23). Twenty patients (74%) were in grade IV encephalopathy on presentation. RESULTS: Six patients (22%) began to improve soon after admission and went on to full recovery. Spontaneous recovery was more frequent in patients with drug-induced hepatic damage (four patients [80%]) and was less frequent in those with hepatitis B (one patient [10%]) and NANB hepatitis (one patient [12%]). The other 21 patients (78%) were considered for orthotopic liver transplantation. Eight (30%) were judged to be unsuitable and went on to early death. Thirteen (48%) were suitable for transplantation. Of these five (19%) died before a liver donor became available and eight (30%) received liver grafts and went on to full recovery. Overall, 14 patients (52%) survived and 13 (48%) died. Patients with Wilson's disease (four [100%]) were most suitable for orthotopic liver transplantation whereas eight (44%) of those with hepatitis B or NANB hepatitis were unsuitable. Of the eight patients receiving liver grafts one had hepatitis B, three had NANB hepatitis and four had Wilson's disease. Five were in grade IV encephalopathy at the time of operation. The mean waiting time for transplantation was 6.4 days. Five patients received ABO blood group compatible grafts and three received ABO incompatible grafts. Of the latter group, two subsequently required secondary orthotopic liver transplantation with ABO compatible grafts. All eight patients who received transplants are alive and well 3-24 months after the operation. No patient has any neurological sequelae. CONCLUSIONS: Orthotopic liver transplantation is a preferred option for patients with fulminant hepatic failure whose condition is not responding to conservative management. ABO incompatible livers transplanted in emergency circumstances may prove life-saving either by functioning successfully or by providing time during which ABO compatible grafts become available.(ABSTRACT TRUNCATED AT 400 WORDS)

Familial Mediterranean fever in six Australian children.

Six Australian children fulfilled the diagnostic criteria for familial Mediterranean fever. None had a family history of the disease, but five children came from ethnic groups that typically were associated with the disease. The symptoms commenced before five years of age in all the children, and three children underwent unnecessary operations because of the symptoms of recurrent fever and abdominal pain. All six children benefited from colchicine prophylaxis by mouth. More cases can be expected to be recognized in Australia because of the large number of Australian children with a Mediterranean heritage.