Multiple food intolerance or refractory celiac sprue?
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Biomedical subjects
Publications and source records attributed to G M Amato.
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Glycogenosis type II or Pompe disease is an inherited autosomal recessive disorder known in 3 different clinical forms (infantile, juvenile and adult). We report on a case diagnosed as a classic infantile form with the worst outcome of all 3 described, if we had followed and executed a correct and complete diagnostic pathway. A 7 months old female child was admitted for fever and dyspnoea. At chest auscultation weepings and weezings were found; on the cardiac apex a murmur due to mitralic failure was retrieved. The thorax X-ray showed a greatly increased heart shadow with a cardiothoracic index of 0.75. ECG showed high voltages and signs of bilateral ventricular hypertrophy. Cardiac ultrasonography confirmed the presence of a big heart with an enormous swollen left ventricle and a severe mitralic failure. The clinical diagnosis of infantile Pompe disease was confirmed by the almost total absence of cellular acid a-glucosidase activity but we couldn't perform the assay because of the rapid exitus of our patient, which occurred before glycogen storage disease II was suspected. So, we tried to compare our case with others reported in the literature in order to ratify our diagnostic hypothesis. The contribution of genetic counseling practiced on all the couples at risk remains useful every time that a certain diagnosis is made.
Discitis is an inflammatory disease of the intervertebral disc which has usually a benign evolution in childhood. It often recognizes an infectious etiology. Still discussed however is the possibility of a primitive discal involvement (not secondary to a vertebral inflammation) or of a non infectious etiology and the subsequent more correct diagnostic-therapeutic procedures. We report a case of a girl with discitis diagnosed early and treated with antibiotics and orthopedic corset, whose follow-up shows a benign evolution. We underline the importance of modern neuroradiological imaging: in particular, MR plays a major role in the inflammatory diseases of the column, both in diagnosis and in follow-up. MR scans of the involved disc allow frequent controls without radiogenic risks and with a good resolution because of the multiplanarity typical of the method.
Lipoid pneumonia. Recovery after treatment with intravenous immunoglobulins, steroids, cephalosporins. A case of lipoid pneumonia is described, due to accidental inhalation of cosmetic oil occurred in an infant 11 months old, which caused severe clinical and radiological features. The patient was treated with antibiotics, corticosteroids and intravenous immunoglobulins. Clinical and radiological recovery was achieved within 5 months and persisted at 9 and 20 months follow-up.
A case of rheumatoid-like arthritis as a symptom of primary agammaglobulinemia X-linked in a 24-month-old child is reported. The treatment protocol is also discussed.
BACKGROUND: A clinician who deals with allergic patients needs the help of in vivo and in vitro allergometric tests in order to decide difficult therapeutic choices. METHODS: In the section of Clinical Immunology of the Institute of Paediatrics (Palermo University) two allergologic tests, prick and MAST-CLA, have been studied retrospectively, they were performed on patients observed for allergic disorders over 5 years. The aim of this study was to evaluate the diagnostic capacity of these tests "on the field". The study population is made of 459 patients (age range from 6 months to 16 years) affected with asthma, rhinitis, presumably allergic dermatitis, association of asthma and dermatitis, urticaria, selected on the basis of anamnesis and clinical examination. Eosynophils, basophils, total IgE, specific IgE with DHS-MAST-CLA and prick tests (Bayropharm) for the allergens most frequently responsible of allergic disease in our country, have been evaluated. A double controlled assay of 1040 pairs of allergens with MAST-CLA has been performed. RESULTS: The agreement between prick and MAST appeared to be satisfactory for inhaled allergens. Eosynophils count and total IgE levels showed a significative difference between patients negative versus patients positive for at least one allergen. CONCLUSIONS: The pattern of the allergens most frequently positive changes with age and patients positive for pollens showed positivity for vegetal food allergens with a frequency higher than expected.
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