伴有普拉德-威利表型和脆性X相关震颤/共济失调综合征的前突变
premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome.
作者信息
Martínez-Cerdeño Verónica, Lechpammer Mirna, Noctor Stephen, Ariza Jeanelle, Hagerman Paul, Hagerman Randi
机构信息
Department of Pathology and Laboratory Medicine UC Davis Medical Center Sacramento CA USA.
Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California Sacramento CA USA.
出版信息
Clin Case Rep. 2017 Mar 23;5(5):625-629. doi: 10.1002/ccr3.834. eCollection 2017 May.
This is a report of premutation with Prader-Willi phenotype (PWP) and FXTAS. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation. The patient presented intranuclear inclusions, severe obesity, hyperphagia, and ADHD symptoms, typical of the PWP in FXS. In addition, the autopsy revealed multiple architectural cortical abnormalities.
这是一份关于具有普拉德-威利表型（PWP）和脆性X相关震颤/共济失调综合征（FXTAS）的前突变的报告。虽然PWP在脆性X综合征（FXS）中很常见，但从未在具有前突变的个体中被描述过。该患者出现了核内包涵体、严重肥胖、贪食和多动症症状，这些都是FXS中PWP的典型症状。此外，尸检显示存在多种皮质结构异常。
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