Biomedical subjects

Maurizio La Cava

Publications and source records attributed to Maurizio La Cava.

3 recordsLinked to original sources

PubMed2006

Diffuse granulomatous necrotizing scleritis.

CASE REPORT: A 34-year-old man presented with anterior scleral thinning in the right eye (RE) and a painful nodular scleritis in the left eye (LE). Fundus examination showed a healed vasculitis and an inferior epiretinal neovascular membrane in the LE. Topical and systemic oral steroids and antiviral medication were prescribed. One year later, optic disc hyperaemia and swelling and macular oedema became apparent in the LE. Pulsed intravenous steroids were administered for 1 year, when a nasal septum perforation and vitreous haemorrhage in the LE were diagnosed. The eye was enucleated 3.5 years after the initial complaint. Necrotizing granulomatous tissue replacing the sclera and subconjunctival granulomatous tissue were observed. Six months later, oedema and neovascularization of the right optic disc were observed and cyclophosphamide was started, with regression of the clinical signs. No systemic abnormalities have so far become apparent. DISCUSSION: Posterior scleritis is most often observed in patients with no signs of associated systemic autoimmune disease. The diagnosis in this case is most probably one of Wegener's granulomatosis (WG). In WG, the diagnosis is based on necrotizing granulomas of the respiratory tract, generalized focal necrotizing vasculitis and focal necrotizing glomerulonephritis. Eye involvement with WG has been reported in up to 58% of cases. Evaluation of the scleritis patient should include a detailed medical history, chest X-rays, blood tests, autoantibody serology and analysis of urinary sediment. Cyclophosphamide is the treatment of choice for patients with ocular manifestations of WG, polyarteritis nodosa or rheumatoid arthritis, either alone or in combination with systemic steroids. Visual loss is expected in 85% of individuals with severe necrotizing posterior scleritis.

Adult↗

PubMed2004

Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up.

Blau syndrome (MIM 186580) is a rare granulomatous disorder inherited in an autosomal dominant manner characterized by the early appearance of granulomatous arthritis, skin rash and anterior uveitis. Missense mutations in CARD15, usually on codon 334, have been described in several families with Blau syndrome. The disorder has been described as familial; here we report the first evidence of a sporadic case of Blau syndrome in a 19 year-old man with two CARD15 mutations (R334Q and G908R). His healthy mother, father and brother did not carry the R334Q mutation, which was thus considered a neo-mutation, nor did they carry the other mutation, usually found in Crohn's disease. An extensive radiologic, histologic and laboratory evaluation and a life-long clinical follow-up is available for this patient who presented skin, joint, epididimal and eye involvement.

Adult↗

PubMed2002

Uveitis in Turner's syndrome.

BACKGROUND: Turner's syndrome is a chromosomal abnormality where phenotypic females have either a missing X chromosome or a structural aberration of the X chromosome. Several ocular diseases have been associated with Turner's syndrome in the past, including one case only of proven iridocyclitis. METHODS: In this study we report the clinical findings of three females with Turner's syndrome and uveitis followed up for a mean period of 12.6 months. Two were observed in childhood or adolescence (10 and 16 years old). RESULTS: All the patients showed iridocyclitis, in one case complicated by the onset of papilledema and cystoid macular edema. Associated systemic diseases (psoriasis and juvenile seronegative arthritis) were diagnosed in two cases. The third patient showed positive antinuclear antibody and HLA-DR11, without any clinical or radiologic signs of arthritis. The iridocyclitis tended to become chronic with time, and this may be partially due to the endocrinologic contraindications to the use of systemic steroids. Nevertheless, the final visual acuity was > or =8/10 in all three cases. CONCLUSIONS: Iridocyclitis should be included in the list of ocular manifestations in Turner's syndrome. It may tend to become chronic and may be found especially in those patients presenting other associated autoimmune systemic disease.

Adolescent↗