RESUMO
Hot water epilepsy (HWE) refers to a specific type of reflex epilepsy precipitated by the stimulus of bathing in hot water. HWE is considered to be a geographically specific epileptic syndrome since it mainly occurs in the Indian community. Spontaneous seizures may also occur later in life. The seizure pattern includes complex partial attacks. Although the pathogenesis of HWE is still unknown, temporal lobe has been thought to take part in the epileptogenesis. This paper reports on a 4-year-old girl who, at the age of 6 months, experienced complex partial seizures triggered by bathing in hot water. Non-provoked seizures intercritical EEG showed isolated spikes and spike-and-waves in the left parietal region. Brain MRI detected a left parietal focal cortical dysplasia. This is the second patient with HWE in whom a cortical malformation has been observed. The observation present here and data reported in the literature seem to indicate that the sensory cortex might also be involved in triggering seizures precipitated by a bath in hot water. Moreover, the authors believe that MRI examination should be considered for this group of patients.
Assuntos
Epilepsia Reflexa/etiologia , Epilepsia Reflexa/patologia , Frutose/análogos & derivados , Temperatura Alta/efeitos adversos , Malformações do Sistema Nervoso/complicações , Malformações do Sistema Nervoso/patologia , Lobo Parietal/anormalidades , Anticonvulsivantes/uso terapêutico , Pré-Escolar , Eletroencefalografia , Epilepsia Reflexa/fisiopatologia , Feminino , Frutose/uso terapêutico , Lateralidade Funcional/fisiologia , Humanos , Imageamento por Ressonância Magnética , Malformações do Sistema Nervoso/fisiopatologia , Lobo Parietal/patologia , Lobo Parietal/fisiopatologia , Estimulação Física , Córtex Somatossensorial/anormalidades , Córtex Somatossensorial/patologia , Córtex Somatossensorial/fisiopatologia , Distúrbios Somatossensoriais/etiologia , Distúrbios Somatossensoriais/patologia , Distúrbios Somatossensoriais/fisiopatologia , Sensação Térmica/fisiologia , Topiramato , Resultado do TratamentoRESUMO
Hypochondroplasia (HCH) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene. FGFR3 is known to play a role in controlling nervous system development. We describe the clinical and neuroradiological findings of the first two patients, to our knowledge, affected by HCH and MS, respectively, in whom bilateral dysgenesis of the medial temporal lobe structures has been observed. In both patients diagnosis was confirmed by molecular analysis. They were mentally normal and showed similarities in early-onset temporal lobe-related seizures. In both patients EEG recorded bilateral temporal region discharges. MRI detected temporal lobe anomalies with inadequate differentiation between white and gray matter, defective gyri, and abnormally shaped hippocampus.