[The so-called lipophanerosis of the globus pallidus].
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Brain Diseases↗
Biomedical subjects
C Borrone
Publications and source records attributed to C Borrone.
[Clinical heterogeneity in fructose intolerance].
We observed eight infants with hereditary fructose intolerance which had been diagnosed by the fructose tolerance test and an aldolase assay on biopsied liver. None of these had been diagnosed before their admission to our department. The most frequent symptoms were vomiting and failure to thrive. All the patients had hepatomegaly. Laboratory findings were indicative of disturbed hepatic function. Hypoglycemia was found in only 3 out of 8 patients. The course was lethal in 2 patients; the 6 survivors are doing well following a fructose-free diet. The importance of practising paediatricians having the detailed nutritional history of the patient and precise knowledge of infant food formulae is stressed. The danger of using fructose continuing solutions for infusion therapy is pointed out. We also report a case of F-1,6-diphosphatase deficiency.
Carbohydrate Metabolism, Inborn Errors↗
[Mannosidosis. Study of two families and prenatal diagnosis].
Mannosidosis is a human lysosomal storage disease caused by and acid alpha-mannosidase deficiency. We have studied two affected Italian families and in this paper discuss the problems concerning the clinical and radiological findings, and laboratory assay as an access to diagnosis. Reference is made to our personal experience, as concerns the difficulties of carrier detection and of prenatal diagnosis.
Chromatography, Thin Layer↗
[Gaucher's disease. Longitudinal-study in 17 patients in a 10-year period (1970-1980) (author's transl)].
We report follow-up studies of 17 patients with Gaucher disease observed over nearly 10 years. According to the classical subdivision in three clinical forms our cases are: 10 patients with the type 1, chronic, non neuronopathic form; 3 with type 2, acute, neuronopathic form; 4 with type three, subacute, neuronopathic form. Varying degrees of clinical severity and involvement of visceral organs and bones were observed. Possible molecular bases for the heterogeneity of pathology observed are discussed. Two prenatal diagnoses monitored in the same at risk family are reported. Observations of Brady suggesting that enzyme replacement may be useful for treatment of type 1 patients are discussed.
Adolescent↗
Cyclosporin A in the treatment of juvenile chronic arthritis and childhood polymyositis-dermatomyositis. Results of a preliminary study.
In this study we have investigated the efficacy and safety of cyclosporin A (CyA) in a group of pediatric patients with juvenile chronic arthritis (JCA, 9 cases) and polymyositis-dermatomyositis (PM-DM, 3 cases). Of the 9 JCA patients, 7 had the systemic and 2 the polyarticular form of the disease. All of the patients received CyA after the failure of corticosteroids and/or cytotoxic drugs. CyA was administered for 9 to 48 months at a mean dose of 5 mg/kg/day. Ten patients received corticosteroids with CyA. The results of CyA treatment were satisfactory overall, both in the PM-DM patients and in the JCA patients, as assessed by clinical and laboratory evaluation. CyA-related side effects included alopecia, hypertension, hypertrichosis, tremors, and hirsutism. One JCA patient developed polyserositis with hypoproteinemia of unknown origin while receiving CyA. CyA blood levels did not correlate with clinical efficacy and/or side effects. This study suggests that CyA represents a promising agent for the treatment of JCA and childhood PM-DM.
Adolescent↗
Autoimmune thyroiditis developing into systemic lupus erythematosus in a 15-year-old girl.
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Autoantibodies↗
Erythema multiforme-like manifestations and arthritis in a 3-year-old child with leukocytoclastic vasculitis.
A 3-year-old boy with erythema multiforme-like manifestations and severe articular involvement is reported. Because of the unusual onset of the cutaneous lesion a skin biopsy was performed, revealing the typical features of a leukocytoclastic vasculitis. A direct immunofluorescent study revealed C3 and IgM deposition within the wall and around the small vessels. The clinical and immunopathological findings in this patient were similar to those reported for the acute hemorrhagic edema of infancy (AHE) described in children younger than 2 years of age. The present case supports the hypothesis that AHE is a distinctive leukocytoclastic vasculitis of childhood, irrespective of the age at onset.
Arthritis↗