An interesting question of Pompe disease. A case report.

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.

Mycoplasma pneumonias distribution, epidemiology and prevalence in a triennial survey.

OBJECTIVES: To evaluate: (1) the incidence of pneumonia monthly distribution; (2) the rate of pneumonitis due to Mycoplasma Pneumoniae; (3) the suitability of choosing an empirical-based antibiotic-therapy; (4) the need of a critical revision of Mycoplasma serological data. PATIENTS AND METHODS: We studied 188 patients admitted to the Palermo University Pediatrics Department, from september 1998 to august 2001, with admission diagnosis of pneumonia. RESULTS: The highest incidence of pneumonia was in december and march as in both months 28 cases occurred in the whole period 1998-2001 (average of 9.3 cases per each month). The highest rate of pneumonias by Mycoplasma Pneumoniae was in may with a total number of 11/21 cases (52.3%, average of 3.67 cases per month) in the above mentioned three-year period. CONCLUSIONS: Incidence of Mycoplasma pneumonitis is more represented in subjects that are at school age. Our study confirms the enormous variability of the prevalence of the infection by Mycoplasma Pneumoniae and how difficult it is to make an accurate diagnosis lacking standardized, rapid, specific and comparative methods.

Two strange cases of hypereosinophilia and child's relapsing angio-oedema.

Two patients aged two and four years came to our observation with "angio-oedema" and relapsing hypodermitis. Atopic diseases were present in both family histories. The clinical examination of both children revealed a good nutritional status, the presence of angio-oedema with fleeting (48 hours max length) and localized hypodermic infiltrations. Amongst laboratory investigations, the blood cells count and the total count of Immunoglobulins showed hypereosinophilia and increased IgE levels over ten times the normal values. Prick tests for the most common inhalant and nutritive allergens were negative. A strong positivity of ELISA for Taenia Solium metacestodes on both sera samples suggested a diagnosis of human cysticercosis.

[Lipid pneumonia. Favorable outcome after treatment with intravenous immunoglobulins, steroids, cephalosporins]. / Polmonite lipoidea. Esito favorevole dopo trattamento con immunoglobuline endovena, cortisonici, cefalosporine.

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.

[Discitis in childhood: integrated neuroradiological imaging in diagnosis and follow-up study of one case]. / Discite nell'infanzia. Imaging neuroradiologico integrato nella diagnosi e follow-up di un caso.

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.

[Rheumatoid-like syndrome as a symptom of agammaglobulinemia]. / Sindrome simil-reumatoide, esordio di agammaglobulinemia.

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.

[Diagnosis in pediatric "allergic" patients]. / Problematiche di diagnostica allergologica in pediatria.

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.