A case of late infantile neuronal ceroid lipofuscinosis associated with precocious puberty.
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.
Aysun
S
S
Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Apak
R A
RA
Küçükali
T
T
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