title: A case of late infantile neuronal ceroid lipofuscinosis associated with precocious puberty.
abstract: Neuronal ceroid lipofuscinosis is one of the hereoffegenerative diseases for which clinical and neuropathologic findings are well documented. We present a patient with late infantile neuronal ceroid lipofuscinosis with true precocious puberty; to our knowledge, this association has not been reported before. The association could be due to an underlying disturbance of hypothalamic-pituitary gonadal function, or to coincidence.
authors.affiliation: Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: S
authors.initials: S
authors.lastname: Aysun
authors.forename: R A
authors.initials: RA
authors.lastname: Apak
authors.forename: T
authors.initials: T
authors.lastname: Küçükali
mesh_terms: D001284:Atrophy; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002648:Child; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009460:Neurologic Examination; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics; D011629:Puberty, Precocious / Q000175:diagnosis* / Q000235:genetics