Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome.
In a neonatal case of infantile neuroaxonal dystrophy, there was emaciation, nystagmus, and endocrinologic disorder suggesting the diencephalic syndrome. At autopsy, spheroid bodies were widely disseminated, particularly in the hypothalamus, infundibulum, and neurohypophysis. The pathologic process may have started in utero.
Nagashima
K
K
Suzuki
S
S
Ichikawa
E
E
Uchida
S
S
Honma
T
T
Kuroume
T
T
Hirato
J
J
Ogawa
A
A
Ishida
Y
Y
D000367:Age Factors; D001369:Axons / Q000473:pathology; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D001927:Brain Diseases / Q000473:pathology* / Q000503:physiopathology; D004027:Diencephalon / Q000473:pathology* / Q000503:physiopathology; D004569:Electroencephalography; D004614:Emaciation / Q000473:pathology; D005072:Evoked Potentials, Auditory; D005260:Female; D006801:Humans; D007031:Hypothalamus / Q000473:pathology / Q000503:physiopathology; D002479:Inclusion Bodies / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010904:Pituitary Gland, Posterior / Q000473:pathology; D011247:Pregnancy; D013577:Syndrome