Patients with hypothalamic hamartomas (HHs) located at the level of the mammillary bodies may present with a peculiar epileptic syndrome characterized by gelastic seizures and, commonly, falls.(1-4) Associated symptoms can include developmental delay, cognitive deterioration, psychiatric disorders, central precocious puberty, and sleep disturbances.(1,4-6) Here, we report the case of an adult patient with HH and excessive daytime sleepiness (EDS) in whom CSF analysis disclosed low levels of hypocretin-1, a finding consistently observed in patients with type 1 narcolepsy.(7)
Muccioli, L., Bisulli, F., Licchetta, L., Pizza, F., Moresco, M., Martinoni, M., et al. (2020). Low CSF hypocretin-1 levels in an adult patient with hypothalamic hamartoma. NEUROLOGY, 94(15), 670-672 [10.1212/WNL.0000000000009243].
Low CSF hypocretin-1 levels in an adult patient with hypothalamic hamartoma
Muccioli, L;Bisulli, F;Licchetta, L;Pizza, F;Tinuper, P
2020
Abstract
Patients with hypothalamic hamartomas (HHs) located at the level of the mammillary bodies may present with a peculiar epileptic syndrome characterized by gelastic seizures and, commonly, falls.(1-4) Associated symptoms can include developmental delay, cognitive deterioration, psychiatric disorders, central precocious puberty, and sleep disturbances.(1,4-6) Here, we report the case of an adult patient with HH and excessive daytime sleepiness (EDS) in whom CSF analysis disclosed low levels of hypocretin-1, a finding consistently observed in patients with type 1 narcolepsy.(7)I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
