Brain tumors in the first three years of life: a review of twenty cases

OBJECTIVE AND METHOD: To review the clinical and neuropathological findings as well as the type of therapy and outcome in 20 infants under 3 years-old with central nervous system (CNS) tumor. They were treated at the Department of Neurology, "Hospital das Clínicas" University of São Paulo Medical School, from January 1997 to May 2001. RESULTS: Astrocytoma was the most common histological type (n=7), followed by ependymoma (n=3), medulloblastoma (n=2), craniopharyngioma (n=2) and desmoplastic ganglioglioma (n=2). The location of the tumor was predominantly supratentorial. Mean follow-up time was 20.2 months with recurrence in 7 cases. For each type of tumor we have emphasized the treatment currently recommended. CONCLUSION: Although follow-up time is not sufficient for analyzing survival, a trend of improvement in prognosis was noted, compared to another series of cases from our Institution that had been evaluated before 1990.

OBJETIVO E MÉTODO: Avaliar os aspectos clínicos e histopatológicos, o tipo de tratamento e a evolução de 20 crianças menores de três anos de idade, com o diagnóstico de tumor de sistema nervoso central, que foram tratadas em nossa Instituição no período de janeiro de 1997 a maio de 2001. RESULTADOS: O astrocitoma foi o tumor mais comum (n=7), seguido pelo ependimoma (n=3), meduloblastoma (n=2), craniofaringioma (n=2) e ganglioglioma desmoplásico infantil (n=2). A localização do tumor foi predominantemente supratentorial. A média de seguimento foi 20,2 meses e houve recidiva em sete casos. Para cada tipo de tumor enfatizamos o tipo de tratamento recomendado na atualidade. CONCLUSÃO: Embora o tempo de seguimento não seja suficiente, ainda, para analisar a sobrevida, foi notada nítida tendência a melhor prognóstico em comparação com a casuística proviniente de nossa Instituição que analisou casos abordados antes da década de 90.

Schwartz-jampel syndrome: report of five cases

We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age had generalized stiffness and the characteristic facial as well as osteoarticular changes from birth. Other two boys with 11 and 7 years had less marked dysmorphic changes at birth and manifested myotonia, as a limiting factor, during the second year of age. A girl with two months of age had severe myotonia from birth leading to feeding diffuculties. In all cases the diagnosis was based on dysmorphic features, and on electromyographic changes showing continuous electrical activity of muscle fibers. All were treated with carbamazepine, 20-30 mg/Kg since diagnosis. The four boys (all with normal intelligence) improved of myotonia in daily activities, markedly in three, and moderately in one. The girl did not improve and showed global development delay: by the last follow-up (at 20 months of age) she did not sit unsupported, and had mental retardation. Carbamazepine in SJS-type 1 improves general daily performance and psychological status of the patients