Epilepsy and Turner's syndrome: report of a case and review of the literature

Fifty years ago Henry Turner identified the association of sexual infantilism, webbed neck and cubitus valgus to be a separate entity and subsequently gonadal dysgenesis was appended to the definition. Twenty years after the original report it was demonstrated that in typical patients with Turner's syndrome the chromosomal composition was 45,X0 and in addition cases of mosaicism were described. Although much general information is now available about Turner's syndrome the neurological complications are largely neglected. In this paper we review the case of a patient with Turner's syndrome who at age of 16 years developed severe epilepsy. In addition, a survey of the literature concerning neurological abnormalities associated with this syndrome is presented. It seems clear that neurological symptoms in patients with Turner's syndrome deserves consideration for many reasons; may be the most significant is the evidence that patients with this syndrome have a high incidence of vascular abnormalities, which may also affect the CNS. Empirically patients with Turner's syndrome are at risk of developing cerebral vascular diseases. Also the relatively high frequency of cognitive abnormalities in these patients seems to justify the hypothesis that in a certain percentage of cases a CNS dysfunction or malformation, not necessarily of a vascular nature, may be a component of the syndrome still nor described

Síndrome de lennox-gastaut com início na vida adulta? A respeito de um caso./ Late onset Lennox-Gastaut like syndrome: a case report

The Lennox-Gastaut syndrome (LGS), although described earlier, was first accepted in 1966 as a form of severe childhood epileptic encephalopathy, characterized by refractory epileptic seizures of diverse types, typical EEG abnormalities and slow mental development. Apesar de ter sido relatada anteriormente, a sindrome de Lennox-Gastaut (SLG) só foi definitivamente aceita como entidade distinta em 1966. Desde então, o epônimo tem sido utilizado para designar encefalopatia severa da infância, caracterizada fundamentalmente por crises epilépticas refratárias de diversos tipos associadas com alterações eletrográficas típicas. Entretanto, vários autores consideram que o rótulo de SLG está abrigando quadros nosológicos distintos, que deveriam ser separados e individualizados. Ilustrando esta situação, o caso de um paciente que iniciou quadro de «SLG-like» aos 20 anos de idade é relatado. Adicionando mais confusão, alguns casos semelhantes têm sido descritos nos últimos anos sob variada nomenclatura. Desde que um dos principais critérios para o diagnóstico da SLG é a idade dependência, como deverão então ser chamados tais quadros? Revisão dos critérios empregados para o diagnóstico da SLG se faz necessária./ This condition, however, is surrounded by controversy as the clinical criteria used by various authors to define it are quite different. It is very likely that this eponym has been used to harbour distinct epileptic conditions, all of which have in common a slow spike and wave, complex in their EEG recording. Despite the fact that one of the hallmarks of LGS is an onset in early childhood, to add to the confusion, some cases of a LGS-like condition with onset in adulthood have been described. We report here one such case: a 28 year old man whose LGS-like condition started after severe head trauma at the age of 20. In addition we briefly review the difficulties in making this diagnosis, using this case to illustrate these aspects

Ketoconazole in the treatment of cryptococcosis of the central nervous system

Two patients with cryptococcosis of the CNS were treated with ketoconazole (KTZ), an imidazole derivative with fungistatic properties; they had either failed standard therapy (Amphotericin-B + 5-Flurocytosine) or suffred intolerable side-effects to it. Both patients were administered KTZ 800 mg/day as monotherapy for six months without interruption and both responded. One month after KTZ therapy was withdrawn, however, a relapse of the infection was seen in one case. Side-effects were minimal during the trial of treatment. KTZ could be a useful drug in some cases of neurocryptococcosis