Chitty L S, Robb S, Berry C, Silver D, Baraitser M
Paediatric Research Unit, Guy's Hospital, London, UK.
Clin Dysmorphol. 1996 Apr;5(2):143-52. doi: 10.1097/00019605-199604000-00006.
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.
PEHO综合征是一种罕见的进行性婴儿脑病，肌张力减退、惊厥、智力迟钝、水肿和视神经萎缩的发病年龄各不相同。神经影像学检查在大多数情况下显示小脑和脑干萎缩。已经描述了一种类似PEHO的综合征，其中受影响者在神经影像学上没有典型变化。我们报告了4例新病例，2例散发病例和2例姐妹病例，她们可能是类似PEHO综合征的一部分。
