Neurocutaneous melanosis: follow-up and literature review.

Neurocutaneous melanosis is a rare, congenital, non-inherited syndrome characterized by numerous and/or large congenital nevi with intracranial leptomeningeal melanocytosis. This report describes two patients, presenting with a giant congenital nevus involving a major portion of the posterior trunk with satellite congenital nevi scattered all over the body, who developed seizures at 4 and 6 months of age, respectively. Changes in follow-up magnetic resonance (MR) examinations over an 8-year period were seen in case 1, while parenchymal melanocytic accumulation was reported in the region of the amygdala in case 2. These cases emphasize that neurocutaneous melanosis should be suspected in patients with giant congenital nevus with or without neurological symptoms. Also, neuroaxial MR screening should be performed in all cases and, ideally, before myelination of the brain to provide the highest sensitivity for detecting melanin deposits in the leptomeninges.

Neurological evaluation of children and adolescents with brain tumor, based on ambulatory-oriented follow-up.

Taken as proved that brain tumors are the second most frequent childhood neoplasm - only outnumbered by leukemias - we have undertaken a clinical perspective study with seventy brain tumor patients ranging from one to fifteen years of age, throughout a four-year period (1993-1997), based on ambulatory-oriented follow-up. Forty-one male and twenty-nine female patients were analyzed, in that a slightly higher number of infratentorial tumors was observed (thirty-eight cases), compared to those supratentorially located (thirty-two cases). The most repeatedly observed during the study was the medulloblastoma (twenty-one patients), followed by the astrocytoma (fifteen patients) and the germinoma (eleven patients). It should be pointed out that during the ambulatory follow-up 75,5% of patients developed neurological sequels. A tumor recurrence was noticed in 34,3% of them, while 21,4% eventually died.

Menkes disease: case report of an uncommon presentation with white matter lesions.

Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities. White matter lesions may be present before other features of the disease and may evolve into atrophy. We hereby report a case of Menkes disease with typical history and progression, and an early phase imaging study with important white matter abnormalities, which could have lead to diagnostic difficulties.

[Krabbe disease (globoid cell leukodystrophy): a case report] / Doença de Krabbe (leucodistrofia célula globóide): relato de um caso.

OBJECTIVE: The authors report a case of Krabbe disease.METHODS: The authors report a case of patient with motor deterioration and irritability in first months of life being suspected and confirmed the hypothesis of Globoid Cell Leukodystrophy through the subsidiary exams and enzymatic dosage.RESULTS: The case presented signs and symptoms compatible with the early onset type of Krabbe Disease, being confirmed by dosage of the enzyme galactosylceramide beta galactosidase in fibroblasts culture.CONCLUSIONS: The Krabbe Disease is a rare autosomal recessive disorder and the suspicion many times dont arrive to be lifted up, not arriving to the specialist for diagnostic. In spite of there not being specific treatment, the genetic orientation is necessary.

Juvenile systemic lupus erythematosus. Neurological involvement.

With the purpose of analyzing the neurological involvement due to systemic lupus erythematosus (SLE), we evaluated 17 female patients who were seen regularly at the hospital and had been diagnosed as having SLE according to classification criteria proposed by the American College of Rheumatology revised in 1982, before the age of 16. Neurological involvement was detected in 12 patients (71%): headache (35%), extrapyramidal syndrome (35%), epileptic syndrome (24%) pyramidal syndrome (24%), peripheral neuropathy (12%) and optic neuritis (6%). The findings of CT scan (58%) and cerebrospinal fluid (50%) were most closely correlated to clinical neurological involvement.

[Familial paroxysmal choreoathetosis. Report of 2 cases in one family]. / Coreoatetose paroxistica familiar. Registro de dois casos em uma familia.

The authors present two cases of a very rare condition known as familial paroxysmal choreoathetosis. The patients, mother and daughter, were 28 and 8 years old and the disease started when they were 6 and 2 year-old, respectively. The paroxystic involuntary movements were generalized, producing speech and gait disturbances, without any impairment of consciousness. The duration of the episodes lasted 30 to 180 minutes. The paroxysmals occasionally could be triggered by physical stress or alcohol intake. The neurological examination and the electroencephalogram during free intervals were normal. Searching the available literature these two cases could be classified as belonging to the same form described by Mount and Reback, in 1940.

Coreotetose paroxistica familiar: registro de dois casos em uma familia. / Familial paroxysmal choreoathenosis: report of 2 cases in a family

Os autores relatam duas observacoes clinicas sendo mae e filha portadoras de crises de coreatetose, iniciadas aos 6 e 2 anos de idade com o diagnostico de entidade rara: a coreotetose paroxistica familiar.Sao descritas as caracteristicas clinicas e terapeuticas e sao referidos casos na literatura

[Progressive extrinsic ophthalmoplegia; case report]. / Oftalmoplegia extrínseca progressiva; registro de um caso.

A case of progressive ophtalmoplegia and ptosis affecting a 12 year old boy is reported. A miopatic pattern was detected by the electromyography, the cerebrospinal fluid showed an increase of the protein content and retinal pigmentary degeneration was detected. This findings call the attention for a more widespread degenerative disorders affecting not only the muscular sistem but other organs as well.