A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene.

Megalencephaly is as a rule accompanied by macrocephaly, an occipitofrontal circumference (OFC) greater than the 98th percentile. Megalencephaly is divided into an anatomic type (developmental) and a metabolic type. Metabolic megalencephaly refers to various storage and degenerative encephalopathies. The differential diagnosis includes Alexander's disease, Canavan's disease, glutaric aciduria type 1, GM1 and GM2 gangliosidosis, merosin-deficient variant of congenital muscular dystrophy and megalencephalic leukoencephalopathy with subcortical cysts (MLC). The distinctive features of this syndrome are enlarged cranial circumference, present at birth or starting in the first year of life, and magnetic resonance imaging (MRI) evidence of diffuse with matter abnormalities with subcortical cysts in the tips of the temporal lobes and in frontoparietal subcortical areas. Mutations in the MLC1 gene have been found as causative of MLC in 60-70 % of affected subjects, without genotype-phenotype correlation. The child we describe presented with progressive macrocephaly not associated with dysmorphic features and large abdominoscrotal hydrocele. At the age of 8 months, encephalic MRI showed anomalies suggestive for MLC and brainstem auditory evoked potentials (BAEP) documented alterations of signal conduction in right tracts. At the time, clinical neurologic examination was normal. Extensive metabolic assays were within normal range. Sequence analysis for MLC1 gene revealed a compound heterozygosity for two mutations in MLC1 gene, inherited from healthy non consanguineous parents.

[Orbital bone changes in neurofibromatosis. Tomodensitometric diagnosis]. / Alterazioni ossee orbitarie della neurofibromatosi diagnosi tomodensitometrica.

Aplasia of the greater wing of the sphenoid is a characteristic orbital bony anomaly in von Recklinghausen's disease, responsible for unilateral proptosis. The radiological diagnosis is based on the so called "empty orbit" appearance at routine skull X rays. Computerised tomography has allowed a precise differential diagnosis in 6 patients with neurofibromatosis and congenital absence of the greater wing of the sphenoid. Not only the bony defect is well demonstrated in all its extent but also the associated soft tissue anomalies such as presence of abnormal neurofibromatous tissue, hyperplasia of the temporal lobe, arachnoid cyst etc.

Closed head injuries of school-age children: neuropsychological sequelae in early adulthood.

This study was undertaken in order to investigate the effects of closed head injury with coma, sustained during school age (7-14 years) on the neuropsychological performances of the subject examined at least 7 years later, in early adulthood (18-27 years). Twenty-one subjects who met these requirements were examined with neuropsychological tests, supplemented by complete neurological examinations and interviews with both the subject and at least one relative. Only 3 subjects out of 21 were found to be "impaired" from a neuropsychological point of view, since they fell below the cut-off scores in at least 4 tests out of 9. These findings suggest that the long-term prognosis of closed head injury in school-age children is generally good. The factors that may have influenced the prognosis in these patients are discussed.

[The Sturge-Weber syndrome. Tomodensitometric diagnosis]. / La sindrome di Sturge-Weber. Diagnosi tomodensitometrica.

Radiological diagnosis of Sturge-Weber's disease is based on the recognition of the characteristic "tram-line" type of calcification at routine skull X ray examination. Computerized tomography allows an earlier diagnosis since it shows smaller calcifications. It also provides a better appreciation of the associated parenchimal anomalies, such as cerebral atrophy, and an exact evaluation of the extent of the pial angiomatosis following intravenous injection of contrast. In four children with Sturge-Weber's disease CT clearly revealed the full extent of calcifications and vascular anomaly; in one of the children the diagnosis was possible before the appearance of the calcifications.

Radiologic demonstration of syringobulbia. Report of 8 cases.

Out of 75 syringomyelia cases, 8 had a syringobulbic extension. The cavity was demonstrated by magnetic resonance imaging (3 cases), syringography (3 cases), ventriculography (2 cases), and myelo-CT (2 cases). The cavities could be separated into 2 groups. In the first (5 cases) the cavity extended from the floor of the fourth ventricle, anterolaterally (3 cases) or anteriorly in the midline (2 cases). The communication with the fourth ventricle was usually wide. In the second group (3 cases), the syringobulbic cavity was located anteriorly; 2 of the 3 had no communication with the fourth ventricle and had an exceptional cranial extension (syringocephalia). In selected cases, invasive studies may help to recognize the connections of the cavities, and thus be useful in planning the surgical treatment.

Intramedullary "holocord" oligodendroglioma: case report.

Primary spinal cord oligodendrogliomas are rare tumours. Only 3 holocord cases have been reported in the literature. We present a primary intramedullary "holocord" oligodendroglioma in a 13 year-old male. Scoliosis was the initial symptom. Neurological deterioration prompted MRI, which demonstrated the lesion. Total removal was achieved. This case shows that meticulous surgery may obtain an optimal result in holocord oligodendrogliomas. 2 years after surgery, the young patient has made an excellent recovery.

Necrotizing encephalitis in a Yorkshire Terrier: clinical, imaging, and pathologic findings.

A 5-year-old, male Yorkshire Terrier had chronic and progressive neurologic signs compatible with lesions in the right brain stem and right forebrain. In magnetic resonance images of the brain there were multifocal lesions at different stages of evolution, consistent with an inflammatory disease. The lesions were located in the white matter of the cerebrum, in the diencephalon and mesencephalon. These lesions were hypointense in T1-weighted images and hyperintense in T2-weighted images with no mass effect and minimal enhancement with gadolinium. Necrotizing encephalitis was confirmed post mortem.