PEHO or PEHO-like syndrome?

被引：28

作者：

Chitty, LS

Robb, S

Berry, C

Silver, D

Baraitser, M

机构：

[1] GUYS HOSP,DEPT PAEDIAT NEUROL,LONDON SE1 9RT,ENGLAND

[2] GUYS HOSP,PAEDIAT RES UNIT,LONDON SE1 9RT,ENGLAND

[3] GUYS HOSP,DEPT PAEDIAT,LONDON SE1 9RT,ENGLAND

[4] HOSP SICK CHILDREN,DEPT CLIN GENET,LONDON WC1N 3JH,ENGLAND

来源：

CLINICAL DYSMORPHOLOGY | 1996年 / 5卷 / 02期

关键词：

PEHO syndrome; oedema; progressive encephalopathy;

D O I：

10.1097/00019605-199604000-00006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

PEHO syndrome is a rare progressive infantile encephalopathy, with variable age of onset of hypotonia, convulsions, mental retardation, oedema, and optic atrophy. Neuroimaging shows cerebellar and brainstem atrophy in most instances. A PEHO-like syndrome has been described in which those affected do not have the typical changes on neuroimaging. We report four new cases, two isolated cases and two sisters, who might be part of the PEHO-like syndrome.

引用

页码：143 / 152

页数：10

共 5 条

[1]

HALTIA M, 1993, ACTA NEUROPATHOL, V85, P241

[2]

SALONEN R, 1991, CLIN GENET, V39, P287

[3]

SOMER M, 1993, AM J NEURORADIOL, V14, P861

[4] THE PEHO SYNDROME (PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPOARRHYTHMIA AND OPTIC ATROPHY) - OPHTHALMOLOGICAL FINDINGS AND DIFFERENTIAL-DIAGNOSIS [J].