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A previously healthy 6-year-old boy was admitted to hospital with hypotonia and hyposthenia of lower limbs. Electromyography and slow motor nerve conduction velocity test identified a lower limb acute motor axonal neuropathy. Brain and spinal cord magnetic resonance imaging demonstrated multifocal cortical gray matter lesions in both cerebral hemispheres consistent with gray matter acute disseminated encephalitis otherwise with viral/Mycoplasma pneumoniae encephalitis, and signs of involvement of anterior nerve roots of the cauda equina consistent with Guillain-Barré syndrome. The patient resulted negative to routinely bacterial and viral investigations but positive to human parechovirus that sequence analyses confirmed as type 6. Intravenous immunoglobulins and methylprednisolone treatment were administered but did not relieve the symptoms of Guillain-Barré syndrome. The disease improved gradually over the next 3-month follow-up with a complete remission of both central and peripheral nervous system symptoms.

Background and purpose Ataxia-telangiectasia (A-T) is a rare neurodegenerative disease, due to A-T mutated (ATM) gene mutations, which typically presents with signs of progressive neurological dysfunction, cerebellar ataxia and uncoordinated movements. A-T severely affects patients' quality of life. Successful treatment options are still not available. The aim of this multicenter study, performed with a blind evaluation procedure, was to define the minimal effective dosage of oral betamethasone, thus preventing the occurrence of side effects. Methods Nine A-T patients were enrolled to receive betamethasone at increasing dosages of 0.001, 0.005 and 0.01 mg/kg/day. Neurological assessment and the evaluation of quality of life were performed through the Scale for the Assessment and Rating of Ataxia and the Italian version of the Childhood Health Assessment Questionnaire (CHAQ) at each time-point. The drug safety profile was evaluated. Patients were categorized as responders, partial responders and non-responders. Results Four of nine patients had a benefit at a dose of 0.005 mg/kg/day of oral betamethasone. Using the higher dosage, only one additional patient had a positive response. Conversely, a daily dose of 0.001 mg/kg was ineffective. A correlation between the serum adrenocorticotropic hormone levels and the clinical response was observed. Five of 30 CHAQ items improved in four patients. Conclusions These data suggest that a short-term betamethasone oral treatment, at a daily dosage of 0.005 mg/kg, is effective in some patients. Pre-existing risk factors for side effects should be taken into account before therapy.

A series of 64 consecutive cases of children with neuroepthelial tumors of the cerebral hemispheres operated on from 1966 to 1983 is analyzed with regard to the long-term survival rate and the quality of life at late follow-up. At the time of the diagnosis the age of the patients ranged from 8 months to 15 years (mean age 7.6 years), and the relative incidence of these neoplasms was found to be about the same (37%) in the subgroups from 5 to 10 years and 11 to 15 years. It was only 9% in patients below 2 years of age. Tumor removal was radical in 84% and partial in 16% of the cases. The overall operative mortality was 14%, although it has been 4% since 1977. At histology, grade I and II lesions were found to account for 70% of the cases, and of the remaining 30% of the cases 8% were grade IV anaplastic lesions. The survival rate of the 55 survivors was calculated according to the actuarial life-table analysis. It was 62% at 5 years and 40% at 15 years. The survival rate at 5 years was 80% for low grade (I and II) tumors while it was 25% for high-grade malignancy (III–IV) tumors. The quality of life was assessed in all 29 patients with long-term survival (disease-free state lasting for at least 5 years) by adopting a specific protocol, which included repeated CT studies and neuropsychological evaluation. A more favorable prognosis was established for children operated on when over 6 years of age and with frontal and parietal neoplasms, while a poor functional prognosis was observed in children below 6 years of age and with temporal lobe tumors.

Bell's palsy is caused by a nuclear and/or infranuclear lesion of the facial nerve, producing an ipsilateral deficit of the facial muscles. The etiology is unknown. Bell's palsy has a frequency of 20:100000 individuals/year, a familiarity of 1-2% of cases, and a recurrence rate of 9% of cases. We studied 33 children (mean age 9.1 years) admitted to our Division during the period 1991-1994 because of Bell's palsy. We propose our personal diagnostic and therapeutical trial: in every patient a full neurological and otoscopic examination, and an audioimpedenzometric test. Treatment is then commenced with prednisone (1 mg/kg/day p.o. for 5-10 days and gradual reduction in 5 days), vitamins B1, B6 and B12 p.o. for 30 days, and local treatment with artificial tears, and occlusive bandage at nighttime until the lagophthalmus is resolved. Electromyography-electroneurography, and brain CT-scan are carried out after 15 days and 21 days respectively of treatment, if neurological deficit is unchanged. 80 to 90% of patients are reported to recover spontaneously from Bell's palsy. With our approach we achieved a 100% recovery rate within an average of 3 weeks (range: 1 week to 5 months).

Twenty-eight children (mean age 8 years) with neurofibromatosis type 1 (NF1) and cerebral tumor were studied from 1975 to 1992 (mean follow-up 8.1 years) considering the biological behaviour of the tumor and the patient's quality of life, in order to identify retrospectively the best management. All, except one, tumors were benign gliomas, 76% of the optic nerve/chiasm (NCO), just 10% infratentorial. Sixteen children (57%) did not receive any treatment, 2 radiotherapy (RT) only and 4 symptomatic treatment only; in 6 patients the tumor resection was performed. 92% of the 25 survivors had sufficient autonomy in daily life at last follow-up. Considering the risk of cerebral tumors in patients with NF1, we conclude that cerebral magnetic resonance should be performed also in the asymptomatic ones. If neuroradiological findings are characteristic of benign glioma, histologic confirmation seems unnecessary. Surgical resection is recommended only in tumors confined to a single optic nerve, with severe or progressive symptoms. In chiasmatic tumors we suggest partial resection or symptomatic treatment only with close clinical and radiological observation. RT is only recommended if there is unequivocal evidence of tumor progression. Chemotherapy can delay the use of RT in very young children. Cerebral tumors different from NCO gliomas seem to have a similar natural history in patients with or without NF1 and therefore the management should be the same for both groups.

Eighty children who in the first 2 years of life had signs and symptoms relating to a cerebral neoplasm were studied over an 18-year period (1970–1987), the mean follow-up being 8.2 years. In each case age at onset, clinical presentation, tumor location and pathological diagnosis, extent of surgical resection, postoperative mortality, adjuvant therapy length of survival and quality of life were assessed. Supratentorial tumors (59%) were more common than infratentorial. The most frequent clinical presenting feature (70%) was increased intracranial pressure. Sixty-three patients (79%) were operated on and in all of these cases a histological diagnosis was obtained. Astrocytomas (41%) and medulloblastomas (20%) were the most common oncotypes. Surgical mortality was 17.4% and the 5-year survival rate was 54%. Quality of life was assessed for all long-term surviving patients using a specifically designed protocol. Normal physical and intellectual performances were found in 46% of cases, and all together 75% of the patients had sufficient autonomy in daily life. The prognosis is more closely related to tumor location and type of treatment than to histological diagnosis or age at onset.