CORTICAL PENCIL LINING IN NEUROFERRITINOPATHY: A DIAGNOSTIC CLUE

被引：23

作者：

Batla, Amit ^{[1
]}

Adams, Matthew E. ^{[2
]}

Erro, Roberto ^{[1
,3
]}

Ganos, Christos ^{[1
,4
]}

Balint, Bettina ^{[1
]}

Mencacci, Niccolo E. ^{[1
]}

Bhatia, Kailash P. ^{[1
]}

机构：

[1] UCL Inst Neurol, London, England

[2] Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England

[3] Univ Milan, Dino Ferrari Ctr, IRCCS Ist Auxol Italiano, I-20122 Milan, Italy

[4] Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany

来源：

NEUROLOGY | 2015年 / 84卷 / 17期

关键词：

BRAIN IRON ACCUMULATION; NEURODEGENERATION;

D O I：

10.1212/WNL.0000000000001511

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Neurodegeneration with brain iron accumulation (NBIA) includes pantothenate kinase-associated neurodegeneration (PKAN, NBIA1), PLA2G6-associated neurodegeneration (PLAN, NBIA2), neuroferritinopathy, aceruloplasminemia, and MIN-associated neurodegeneration (MPAN).(1) Clinically, they can have similar presentation, with a combination of progressive extrapyramidal, cognitive, and bulbar features.(1) Since genetic testing is costly and not easily accessible, MRI clues, such as the eye of the tiger sign for PKAN,(2,3) are useful to guide the confirmatory genetic analyses. Herein, we describe a distinct imaging pattern of cortical iron deposition on susceptibility-weighted MRI (SWI) in genetically proven cases of neuroferritinopathy, which is not seen in genetically proven cases of PKAN or PLAN, the 2 most common forms of NBIA.

引用

页码：1816 / 1818

页数：3

共 7 条

[1] Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation [J].