[Reye's syndrome. Follow-up of 1 case].
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Publications and source records attributed to V Lucidi.
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The results of four diagnostic tests have been critically evaluated (xylosemia, serum Ig A level, steatorrhea, X-Ray of the digestic tract) in 80 cases of atrophy of the small intestinal mucosa discovered by biopsy, and in 20 cases in which the biopsy has proved normal. In the celiac subjects the best correlation with the biopsy was found with xylosemia (90%), followed by serum Ig A (87%), by X-Ray of the digestive tract (86%) and finally by steatorrhea (59%). Even in cases without histological alteration of the mucosa, and xylosemia proved abnormal in 70% of the cases, the seric IgA resulted higher greater than 2 delta in 35%, the steatorrhea in 29% while the X-Ray of the digestive tract has never given a false diagnosis. The presence of false negative or positive results in all four tests (except the radiological tests) reconfirms the absolute necessity for biopsy of the digestive tract in the diagnosis of celiac disorder, and has led the AA. Carry out whenever possible the xylosemia, the steatorrhea and the serum IgA level because in none of the 80 cases of celiac disorder has there been a false negative result in all three such tests at the same time.
The authors describe six subjects with Reye's syndrome. All subjects died nevertheless the treatment (exchange-transfusions infusions of citrulline and ornithine). The autoptical studies showed cerebral oedema and fatty degeneration of the liver. Hepatic and seric OTC activity was measured in three patients: enzyme activity was virtually absent in one patient and normal in the other two. Instead in one patient was found partial CPS deficiency. However, Reye's syndrome is not only correlated with enzymatic deficiency of urea's cycle but sometimes also with toxic and metabolic causes.
We report a study of 128 patients, affected by cystic fibrosis, followed by Ospedale Bambino Gesù Center for diagnosis and therapy of cystic fibrosis. We evaluated, in a retrospective study, the principal symptoms at diagnosis of cystic fibrosis, underlining the frequent finding of not classically related symptoms. Median age at diagnosis was of 29 months, similar to that of other national centers. Furthermore, we report the percentages of diagnostic mistakes, which preceded cystic fibrosis diagnosis (22% of total). Considering the incidence of the disease in Italy (1:3000 live births), a careful valuation of related symptoms is necessary, even if gastrointestinal and/or respiratory disturbances are mild or underestimated, in order to reduce median age at diagnosis, still too high in Italy, compared to that reported by many North-European countries.
Authors report their experience of a population of 308 children affected by cow's milk allergy who presented gastrointestinal, respiratory and cutaneous symptoms. Diagnosis was based on challenge with cow's milk proteins and on laboratory specific tests (RAST, prick test) and non specific ones (PRIST, eosinophil count, 1-h xylose test, occult blood in the stools), following ESPGAN criteria. The patients were subdivided in 3 groups: a) patients with prevalent gastrointestinal symptoms; b) patients with prevalent cutaneous symptoms and c) patients with both, gastrointestinal and cutaneous symptoms. The sensitivity of the employed tests was evaluated either in the whole patient population or in the there group according to symptoms. Our data show a high sensitivity of the RAST for cow's milk (70%) versus a lower sensitivity of prick test (53%) when the whole patients population was considered. Moreover statistically important differences of the sensitivity of the various tests were found when the three groups of patients were considered, as well as when such a comparison was done in patients subdivided according to age (more or less than 6 months). Finally the concord between RAST and prick test was evaluated in the three groups.
Cystic fibrosis (C.F.), a congenital lethal disease involving many organs, is responsible of chronic pulmonary disease and maldigestion. At the beginning symptoms can be feeble and diagnosis is often delayed, especially in those cases with an isolated pulmonary expression. It is demonstrated that early diagnosis and immediate prophylaxis of pulmonary infections and maldigestion improves survival. Thus a neonatal screening test is required. Although various attempts have been done, dating from 1968, there is no evidence, up to now, of a real utility of neonatal screening tests in C.F. The only test with a minor frequency of false negatives and positives is the RIA trypsin serum dosage to be executed within 3-5 days of life.
Spontaneous bacterial peritonitis in patients with chronic hepatitis represents a very controversial matter in terms of frequency, pathology and treatment. This unusual complication mainly due to decreased immunological defences and ascitic fluid opsonic activity is not accepted by all the Authors as a rare event. However, there is agreement as far as management is concerned: cultural examination of the ascitic fluid and the relative antibiogram are the best tools in guiding the approach to an adequate antibiotic therapy.