Gelastic epilepsy without hypothalamic hamartoma: three additional cases.

We describe three children with gelastic seizures without hypothalamic hamartoma whose seizures were characterized by typical laughing attacks associated or not with other seizure types. Ictal/interictal EEG and magnetic resonance imaging were performed. All three subjects showed a good response to carbamazepine therapy with complete seizure control in addition to a benign clinical and cognitive outcome. These three cases confirm that gelastic epilepsy without hypothalamic hamartoma, both in cryptogenic or symptomatic patients (one child showed a dysplastic right parietotemporal lesion), usually has a more benign natural history, and carbamazepine seems to be the most efficacious therapy to obtain both immediate and long-term seizure control. These findings need to be confirmed in a larger sample of children affected by gelastic epilepsy without hypothalamic hamartoma.

The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.

Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative disorder of early childhood characterized by mutations of the RAS-RAF-MAP kinase signaling pathway. We report the case of a child with a diagnosis of JMML carrying two mutations of NRAS gene (c.37G>C and c.38G>A) independently occurring in long-term culture initiating cells. However, only the former was consistently found in more mature hematopoietic cells, suggesting that cancer transformation may lead to the loss of a mutation. This case also indicates that molecular analysis on cell types other than peripheral blood leukocytes may be useful to obtain relevant biological information on JMML pathogenesis.

Cranial fasciitis of childhood (CFC): an unusual clinical case of a rare disease.

Cranial fasciitis of childhood (CFC) is a very uncommon tumour of the scalp, which is almost exclusively observed in the first years of life. It is a benign proliferation of fibroblasts, but its rapid growth rate may resemble a malignant disease. This disease may be suspected from clinical and radiological features, but a definitive diagnosis may be achieved only by pathological examination. We report a case whose onset was in late childhood and whose clinical and radiological characteristics were atypical.

Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency.

BACKGROUND: Noonan syndrome (NS) is an autosomal dominant disorder characterized by specific features including short stature, distinctive facial dysmorphic features, congenital heart defects, hypertrophic cardiomyopathy, skeletal anomalies and webbing of the neck. Molecular screening has shown that the majority of individuals with NS have a mutation in the PTPN11 gene. Noonan syndrome children may show an impaired growth hormone (GH)/insulin-like growth factor axis. Moreover, recombinant human GH (rhGH) has been shown to improve growth rate in patients with NS, although data are still limited. METHODS: In the present study, we assessed growth response following GH therapy (0.25 mg/Kg/week) in 5 (2 M and 3 F) GH-deficient NS patients (NSGHD, mean age 8.5 years) and in 5 (2 M and 3 F) idiopathic GH deficient (IGHD, mean age 8.6 years) patients. We also evaluated the safety of rhGH therapy in NS patients with GHD. RESULTS: At the beginning of GH treatment, height and growth rate were statistically lower in NSGHD children than in IGHD ones. During the first three years of rhGH therapy, NSGHD patients showed a slight improvement in height (from -2.71 SDS to -2.44 SDS) and growth rate (from -2.42 SDS to -0.23 SDS), although the values were always significantly lower than in IGHD children. After five years of rhGH treatment, height gain was higher in IGHD children (mean 28.3 cm) than in NSGHD patients (mean 23.6 cm). During the first five years of rhGH therapy, regular cardiological and haematological check-ups were performed, leading to the conclusion that rhGH therapy was safe. CONCLUSIONS: In conclusion, pre-pubertal NS children with GHD slightly increased their height and growth rate during the first years of GH therapy, although the response to rhGH treatment was significantly lower than IGHD children. Furthermore, the therapy appeared to be safe since no severe adverse effects were reported, at least during the first five years. However, a close follow-up of these patients is mandatory, especially to monitor cardiac function.

[Polyomavirus BK-associated nephropathy after kidney transplant]. / Infezione da polyomavirus BK e patologia correlata dopo trapianto renale.

Advances in immunosuppression have lowered the acute rejection rates in kidney transplant recipients but have impacted negatively on the viral infection rates. Polyomavirus-associated interstitial nephropathy (PyVA N) affects up to 10% of kidney transplant recipients and can progress to irreversible allograft failure in up to 45% of affected cases. Nowadays, thanks to increased awareness of PyVA N and improved diagnostic techniques, the rate of graft loss has decreased, most markedly in centers with active screening and intervention programs. The diagnosis of PyVA N is made by allograft histology. However, systematic screening by quantitative molecular-genetic techniques allows intervention in the early stages of the disease, before the occurrence of irreversible parenchymal changes. So far, the only proven measure affecting PyVA N progression and outcome is the reduction of immunosuppression. Other therapeutic approaches including cidofovir, leflunomide, fluoroquinolones and intravenous immunoglobulins have been explored, but there is no clinical evidence supporting their efficacy. It has been largely demonstrated that BKV-specific T-cell immunity plays a pivotal role in controlling viral replication and disease progression. For this reason viral-specific T-cell immunity can help in monitoring PyVA N. Protocols of adoptive T-cell transfer based on infusion of BKV-specific T cells are the object of many studies and should be considered an innovative treatment approach for PyVA N.