Evidence of polyglandular involvement in Niemann-Pick disease type B.
We report a girl with Niemann-Pick disease type B in whom short stature was recorded over a long period. Association of short stature with the presence of a polyglandular involvement in this patient is discussed.
Strisciuglio
P
P
Department of Pediatrics, 2nd School of Medicine, University of Naples, Italy.
Di Maio
S
S
Parenti
G
G
Franzese
A
A
Lubrano
P
P
Mariano
A
A
Andria
G
G
D000293:Adolescent; D000324:Adrenocorticotropic Hormone / Q000097:blood; D004393:Dwarfism, Pituitary / Q000175:diagnosis*; D004700:Endocrine System Diseases / Q000175:diagnosis*; D005260:Female; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D009542:Niemann-Pick Diseases / Q000175:diagnosis*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency
D000324:Adrenocorticotropic Hormone; D013006:Growth Hormone; D013108:Sphingomyelin Phosphodiesterase; D006854:Hydrocortisone