Febbraio 2018 - Volume XXXVII - numero 2
Pagine elettroniche
1UOC di Pediatria e Neonatologia, Ospedale di Ravenna, AUSL della Romagna
2Pediatra di famiglia, Faenza
3UO di Genetica Medica, Laboratorio Unico della Romagna, Pievesestina (Cesena), AUSL della Romagna
Indirizzo per corrispondenza: federico.marchetti@auslromagna.it
Key words: Asphyxiating thoracic dystrophy, Skeletal dysplasia, Respiratory symptoms
Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare autosomal recessive skeletal dysplasia characterised by narrow chest, short skull and skeletal abnormalities, which include, among other things, a “trident” appearance of the acetabulum and alterations metaphyseal. The narrow chest can cause neonatal respiratory failure and may be associated with persistent respiratory symptoms. Some cases are severe, while others have a benign evolution. The rate of growth is variable, but it can also be normal. Renal and hepatic failures (hepatic or nephrophytic fibrosis) have been described with variable onset. Pigmented retinal degeneration has also been observed. Cognitive development is normal. The paper describes the case of a now 18-month-old girl with typical radiologic features. She had respiratory problems during the first 12 months of life, with progressive gradual improvement. Laboratory evaluation has documented an early hepatic involvement. The treatment with ursodeoxycholic acid was beneficial and reversed enzyme levels.
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Pagine elettroniche
SODc Reumatologia, AOU Anna Meyer, Firenze
Indirizzo per corrispondenza: azzali.annachiara@gmail.com
Key words: Systemic lupus erythematosus, Drug-induced lupus erythematosus, Antiepileptic drugs
The paper describes the case of a South-American 14-year-old girl who presented with arthralgia, weakness and alopecia. As she was under antiepileptic treatment since she was 5 years of age, on suspicion of drug-induced lupus erythematosus (DILE) anti-histone antibodies were dosed and showed positive results. She presented with mild anaemia, leukopenia, hypocomplementemia, ANA, anti-dsDNA and LAC positivity. The antiepileptic therapy was initially modified and then, as no more crises were present, interrupted. Anyway, as a minor symptomatology, anaemia, leukopenia, hypocomplementemia, ANA and anti-dsDNA persisted, the diagnosis of idiopathic systemic lupus erythematosus (SLE) was made. After treatment with hydroxychloroquine and low dose prednisone the girl clinically improved and her laboratory data normalised. This case report is suggestive of the complexity in differentiating SLE and DILE and underlines the importance of a long and careful follow-up.
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Pagine elettroniche
1Università di Trieste
2IRCCS Materno-Infantile “Burlo Garofolo”, Trieste
Indirizzo per corrispondenza: stefanoamoroso1234@gmail.com
Key words: C3-glomerulopathy, Hypocomplementemia, Membranoproliferative glomerulonephritis, Mofetil micofenolate, Eculizumab
C3-glomerulopathy includes several nephropathy charac-terised by almost only C3 deposits without immunoglobu-lins with a mesangial proliferative or membrano-proliferative pattern on light microscopy. C3-glomerulopathy is determined by a dysregulation of the al-ternative pattern of complement due to autoantibodies such as C3 nephritic factor or mutations of complement pro-teins. Corticosteroids combined with mofetil micofenolate could be effective in inducing a partial or complete remis-sion. Eculizumab, the humanised monoclonal antibody di-rected against C5, has been shown to have a favourable effect in several case series of patients.
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