Hamartoma of the hypothalamus represents a well-known but rare cause of central precocious puberty and gelastic epilepsy. Due to the delicate site in which the tumor is located, surgery is often unsuccessful and associated with considerable risks. In the two cases presented, gamma knife radiosurgery was applied as a safe and noninvasive alternative to obtain seizure control. Two patients, a 13-year-old boy and a 6-year-old girl, presented with medically intractable gelastic epilepsy and increasing episodes of secondary generalized seizures. Abnormal behavior and precocious puberty were also evident. Magnetic resonance (MR) imaging revealed hypothalamic hamartomas measuring 13 and 11 mm, respectively. After general anesthesia had been induced in the patients, radiosurgical treatment was performed with margin doses of 12 Gy to 90% and 60% of isodose areas, covering volumes of 700 and 500 mm3, respectively. After follow-up periods of 54 months in the boy and 36 months in the girl, progressive decrease in both seizure frequency and intensity was noted (Engel outcome scores IIa and IIIa, respectively). Both patients are currently able to attend public school. Follow-up MR imaging has not revealed significant changes in the sizes of the lesions. Gamma knife radiosurgery can be an effective and safe treatment modality for achieving good seizure control in patients with hypothalamic hamartomas.
We prospectively treated 127 children with ALL with a risk-adapted regimen. All patients received the identical induction-consolidation therapy. The early maintenance included intermediate dose methotrexate in patients with standard risk (n = 79) and medium risk (n = 39). In addition patients with high risk (n = 6) received high dose ARA-C followed by L-asparaginase. Intensification treatment and prophylactic cranial irradiation was also tailored according to the risk group. Treatment duration was 2 years. Complete remission was achieved in 97.6% of all patients. Treatment-related toxicity accounted for one death in complete remission. The probability of event-free survival (pEFS) for the combined group was 72% at a median follow-up of 42 months. The pEFS was higher in patients with standard risk (SR) than in patients with medium risk (MR) (80% versus 65%; p less than 0.05) at 30 months, but attenuated in the follow-up evaluation at 42 months (76% versus 63%; p less than 0.1). The number of high-risk patients was too small for statistical evaluation. Relapse within the first 18 months after diagnosis indicated a poor prognosis and was more common in patients with MR than in patients with SR. The immunophenotype of the leukemic cells was not found to constitute an independent risk factor after treatment has been risk-adapted. Patients with an initial white blood cell count of more than 50 X 10(9)/l had a worse prognosis than patients with a lower white blood cell count (p less than 0.01).
A case report of a girl aged 3.5 years affected by the extremely rare combination of idiopathic pulmonary haemosiderosis (IPH) and coeliac disease (CD) is presented. It is the 13th such case that has been published over the last 25 years and only the 7th to be reported in a child. We believe that the concurrence of these two diseases is not coincidental, because a gluten-free diet had beneficial effects on the pulmonary symptoms not only in our case but also in other such patients. However, the pathogenetic relation between IPH and CD remains unclear. Although circulating immune complexes were detected in our patient's serum, there was no evidence of their putative damaging effect on the basement membrane of the alveolar capillaries. Furthermore, no IgA deposits could be demonstrated in alveolar basement membranes. Therefore the hypothesis that there is a reaction between IgA reticulin or endomysial antibodies and an alveolar basement membrane antigen with consecutive structural damage is unlikely.
An aggressive destruction pattern resulting in joint deformation has not been described in skeletal cystic angiomatosis (SCA) so far. We present the case of a 6-year-old boy with such findings strongly resembling Gorham's disease (massive osteolysis). Since the prognosis of the latter entity tends to be less favorable than in SCA, particularly SCA without extraskeletal involvement, careful differentiation of both disorders appears to be important.
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