Righini A, Ciosci R, Selicorni A, Bianchini E, Parazzini C, Zollino M, Lodi M, Triulzi F
V. Buzzi Hospital ICP, Radiology and Neuroradiology, Milan, Italy.
Neuropediatrics. 2007 Feb;38(1):25-8. doi: 10.1055/s-2007-981685.
Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder, which is caused by partial deletion of the short arm of one chromosome 4. Brain magnetic resonance (MR) imaging findings are lacking. We report on brain findings in 10 children with WHS. We evaluated the MR imaging films of 10 subjects affected by WHS, which had been confirmed by genetic study. The age range at MR imaging was between 1 month and 9 years. In 9/10 cases enlargement of the third lateral ventricles was present. In 9/10 cases a global reduction of cerebral hemispheres white matter was present. In 10/10 cases diffuse thinning of the corpus callosum was visible; it was severe in 7/10 cases. In 5/10 cases small foci of T (2) hyper intense signal were visible within the subcortical white matter. In three of the six cases studied within the first year of life frontal periventricular cysts were present. In three of the four cases studied after the first year of life a squared shape of the frontal horns of the lateral ventricles was visible. The MR imaging findings reported in WHS cannot be considered pathognomonic of the syndrome, however, they may suggest WHS.
沃尔夫-赫希霍恩综合征（WHS）是一种罕见的遗传性疾病，由4号染色体短臂部分缺失引起。脑磁共振（MR）成像结果尚缺乏相关报道。我们报告了10例WHS患儿的脑部检查结果。我们评估了10例经基因研究确诊为WHS患者的MR成像胶片。MR成像时的年龄范围在1个月至9岁之间。10例中有9例出现第三脑室扩大。10例中有9例出现大脑半球白质整体减少。10例中均可见胼胝体弥漫性变薄；其中7例严重变薄。10例中有5例在皮质下白质内可见小的T（2）高信号灶。在出生后第一年内研究的6例中有3例出现额叶脑室周围囊肿。在出生后第一年后研究的4例中有3例可见侧脑室额角呈方形。WHS中报道的MR成像结果虽不能视为该综合征的特征性表现，但可能提示WHS。
