Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency

被引：26

作者：

Powers, JM

Rosenblatt, DS

Schmidt, RE

Cross, AH

Black, JT

Moser, AB

Moser, HW

Morgan, DJ

机构：

[1] Univ Rochester, Med Ctr, Dept Pathol, Rochester, NY 14642 USA

[2] Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA

[3] McGill Univ, Ctr Hlth, Div Med Genet, Montreal, PQ H3A 2T5, Canada

[4] Washington Univ, St Louis, MO USA

[5] Washington Univ, Sch Med, Dept Pathol, St Louis, MO 63110 USA

[6] Washington Univ, Sch Med, Dept Immunol, St Louis, MO 63110 USA

[7] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA

[8] Washington Univ, Sch Med, Dept Neurosurg, St Louis, MO 63110 USA

[9] Johns Hopkins Med Inst, Kennedy Krieger Inst, Baltimore, MD 21205 USA

来源：

ANNALS OF NEUROLOGY | 2001年 / 49卷 / 03期

关键词：

D O I：

10.1002/ana.78.abs

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Two adult brothers, one documented to have methylmalonic acidemia with homocystinuria, or cobalamin C deficiency, after autopsy, displayed severe but divergent neurological presentations. One exhibited a myelopathy and the other chronic endocrine problems (Schmidt's syndrome) followed by a neuropsychiatric and dementing disorder owing to cerebral perivascular demyelination. The recognition of cobalamin C deficiency has practical implications because it is one of the few inherited diseases of central white matter that is treatable.

引用

页码：396 / 400

页数：5

共 18 条

[1] Subacute degeneration of the brain in pernicious anemia [J].