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)
Low CSF hypocretin-1 levels in an adult patient with hypothalamic hamartoma / Muccioli, L; Bisulli, F; Licchetta, L; Pizza, F; Moresco, M; Martinoni, M; Zucchelli, M; Plazzi, G; Tinuper, P. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 94:15(2020), pp. 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.
