Post-inflammatory retinal dystrophy in CINCA syndrome.

Right chorioretinitis and bilateral pseudopapilledema were firstly appreciated in a 9-month-old child with neonatal findings of aseptic chronic meningitis, framed in the context of CINCA syndrome at 1 year. Therapeutical response to various combinations of drugs was inconsistent until 7 years, when anakinra was started with immediate clinical and laboratory improvement. A state of severe retinal dystrophy of post-inflammatory origin became evident on funduscopy, optical coherence tomography and visual electrophysiology tests at the age of 10 years, which remained stationary after 1 year of anakinra treatment.

Longstanding epileptic encephalopathy and linear localized scleroderma: two distinct pathologic processes in an adolescent.

We report a 7-year-old boy who unexpectedly developed a multi-drug resistant epilepsy with negative neuroimaging results, followed by the insidious appearance of linear localized scleroderma involving the right leg. When the boy was 16 and severely affected by epileptic encephalopathy, we have evaluated this case for the first time: his localized scleroderma had reached the right buttock and positive anti-nuclear antibody was the only positive laboratory test. Methotrexate administered for 12 months was ineffective in improving both the organization of his electroencephalographic pattern and seizure control, though seemed to stabilize the progression of linear scleroderma. This report suggests that neurological abnormality and extracranial scleroderma might represent two own distinct processes in a same patient.

Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome.

Hyperimmunoglobulinemia D/periodic fever syndrome is caused by recessively inherited mutations in the mevalonate kinase gene and is characterized by persistently high polyclonal serum IgD titre and recurrent febrile attacks. No conventional therapy exists for preventing the typical recurrent inflammatory picture of patients. A host of studies have evidenced that elevated levels of various cytokines, such as interleukin-1 (IL-1), mark febrile attacks in this disease and that IL-1 might represent a suitable therapeutic target. We describe the case of a 7-year-old female-child with an established diagnosis of hyperimmunoglobulinemia D/periodic fever syndrome in whom anakinra, IL-1 receptor antagonist, was daily administered at the dosage of 1 mg/kg/day by subcutaneous injection for 18 months after numerous disappointing attempts with non-steroidal anti-inflammatory drugs, steroids, colchicine and etanercept through the years. The clinical response under anakinra treatment was recorded through a standardized diary, whilst inflammation parameters were serially measured in comparison with the half-year before starting anakinra. Frequency and severity of fever attacks were totally reduced by anakinra and this is the first child demonstrating that symptoms of hyperimmunoglobulinemia D/periodic fever syndrome might be at least extenuated by anakinra, though not abolished.

IgA nephropathy in an Italian child with familial Mediterranean fever.

Familial Mediterranean fever is an autosomal recessive disorder characterized by transient attacks of fever and polyserositis with substantial risk of developing amyloidotic nephropathy over time. We report an Italian child with familial Mediterranean fever presenting with hematuria during attacks in whom kidney biopsy documented the presence of mesangial IgA deposits and the absence of amyloidosis. Kidney biopsy should be performed in patients showing microscopic or gross hematuria during attacks of familial Mediterranean fever in order to gain additional epidemiological data about specific features of renal involvement and to allow adequate treatment.