A case of neuronal ceroid lipofuscinosis type 8 associated with central precocious puberty

Pediatr Int. 2021 Mar;63(3):338-339. doi: 10.1111/ped.14421. Epub 2021 Mar 11.

Authors

Maki Saito¹, Daishi Hirano¹, Hiroshi Kobayashi¹, Kenjiro Kosaki², Ichiro Miyata¹

Affiliations

¹ Department of Pediatrics, The Jikei University School of Medicine, Tokyo,, Japan.
² Center for Medical Genetics, The Keio University School of Medicine, Tokyo, Japan.

PMID: 33694307
DOI: 10.1111/ped.14421

No abstract available

Keywords: central nervous lesion; central precocious pubety; lysosomal storage disese; neuronal ceroid lipofuscinosis; whole-exome sequencing.

Publication types

Case Reports

MeSH terms

Humans
Neuronal Ceroid-Lipofuscinoses* / complications
Neuronal Ceroid-Lipofuscinoses* / diagnosis
Neuronal Ceroid-Lipofuscinoses* / genetics
Puberty, Precocious* / diagnosis
Puberty, Precocious* / etiology