A Case of Late Infantile Neuronal Ceroid Lipofuscinosis Associated With Precocious Puberty

A Case of Late Infantile Neuronal Ceroid Lipofuscinosis Associated With Precocious Puberty

Neuronal ceroid lipofuscinosis is one of the heredodegenerative 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...

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Veröffentlicht in:Journal of child neurology 2000-03, Vol.15 (3), p.204-205
Hauptverfasser: Aysun, Sabiha, Apak, R. Arul, Küçükali, Türkan
Format: Artikel
Sprache:eng
Schlagworte:
Atrophy
Biopsy
Brain - pathology
Child
Consanguinity
Diagnosis, Differential
Female
Humans
Neurologic Examination
Neuronal Ceroid-Lipofuscinoses - diagnosis
Neuronal Ceroid-Lipofuscinoses - genetics
Puberty, Precocious - diagnosis
Puberty, Precocious - genetics
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Zusammenfassung:Neuronal ceroid lipofuscinosis is one of the heredodegenerative 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. (J Child Neurol 2000;15:204-205).
ISSN:0883-0738
1708-8283
DOI:10.1177/088307380001500311