PMID- 2986405
OWN - NLM
STAT- MEDLINE
DCOM- 19850605
LR  - 20190812
IS  - 0001-6322 (Print)
IS  - 0001-6322 (Linking)
VI  - 66
IP  - 1
DP  - 1985
TI  - Infantile neuroaxonal dystrophy in an albino girl. A cliniconeuropathologic 
      study.
PG  - 68-71
AB  - We present a cliniconeuropathologic study of infantile neuroaxonal dystrophy 
      (INAD) in a 5-year-old Black girl with albinism. The clinical picture shows 
      progressive psychomotor deterioration, beginning after 1 year of age, with 
      hypotonia, pyramidal signs, optic atrophy, and deafness. Light-microscopic 
      examination of the brain reveals wide distribution of spheroids, cerebellar 
      atrophy, and neuronal loss with astrocytosis. This is the first described case of 
      the combination of INAD with albinism.
FAU - Wisniewski, K E
AU  - Wisniewski KE
FAU - Laure-Kamionowska, M
AU  - Laure-Kamionowska M
FAU - Sher, J
AU  - Sher J
FAU - Pitter, J
AU  - Pitter J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - Acta Neuropathol
JT  - Acta neuropathologica
JID - 0412041
SB  - IM
MH  - Albinism/*pathology
MH  - Astrocytes/ultrastructure
MH  - Atrophy
MH  - Brain/pathology
MH  - Cerebellum/pathology
MH  - Child, Preschool
MH  - Deafness/*pathology
MH  - Female
MH  - Humans
MH  - Inclusion Bodies/ultrastructure
MH  - Nerve Degeneration
MH  - Neuromuscular Diseases/*pathology
MH  - Optic Atrophy/*pathology
MH  - Optic Nerve/pathology
MH  - Syndrome
EDAT- 1985/01/01 00:00
MHDA- 1985/01/01 00:01
CRDT- 1985/01/01 00:00
PHST- 1985/01/01 00:00 [pubmed]
PHST- 1985/01/01 00:01 [medline]
PHST- 1985/01/01 00:00 [entrez]
AID - 10.1007/BF00698297 [doi]
PST - ppublish
SO  - Acta Neuropathol. 1985;66(1):68-71. doi: 10.1007/BF00698297.