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Hypothalamic hamartomas (HH) are an uncommon human pathology resulting in a distinctive and often severe epilepsy syndrome, usually including gelastic (laughing) seizures. This chapter focus on HH associated with epilepsy. The gross anatomy of HH lesions determines the nature of their clinical symptoms. Epilepsy associated with HH is a progressive disease for the majority of patients, with development of multiple seizure types, and coincident deterioration in cognition and behavior. Antiepilepsy drugs (AEDs) are unsuccessful in managing seizures associated with HH, and eradication or complete disconnection of the HH is successful for controlling seizures, and may help ameliorate the comorbid problems with cognition and behavior. Treatment choice is guided by the individual circumstances of the case, including the clinical course of the disease and an assessment of the size and attachment of the HH.
This chapter reviews some of the clinically important issues surrounding pregnancy and antiepilepsy drugs (AED) exposure. One-quarter to one-third of woman with epilepsy (WWE) will have an increase in seizure frequency during pregnancy. A number of adverse outcomes of pregnancy are known to occur more often in infants of mothers with epilepsy (IME). Five clinical syndromes have been reported in IMEs: fetal trimethadione syndrome, FHS, a primidone embryopathy, a fetal valproate syndrome and a fetal carbamazepine syndrome. There have been case reports of anomalies associated with exposure to the newer, AEDs, but no drug-specific syndrome of anomalies described. While pregnancy, maternal seizures and AEDs pose risks for successful pregnancy outcome, the majority of patients can and do have healthy children. Valproic acid (VPA) has in addition to the underlying increased risk for malformations an additional risk for development of neural tube defects (NTDs).
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