Colombani Marina, Chouchane Mondher, Pitelet Gaelle, Morales Laure, Callier Patrick, Pinard Jean-Pierre, Lion-François Laurence, Thauvin-Robinet Christel, Mugneret Francine, Huet Frédéric, Guibaud Laurent, Faivre Laurence
Département de Génétique, Hôpital d'Enfants, 10, bd Maréchal de Lattre de Tassigny, 21034 Dijon cedex, France.
Eur J Med Genet. 2006 Nov-Dec;49(6):466-71. doi: 10.1016/j.ejmg.2006.05.001. Epub 2006 Jun 12.
We report a new case of megalencephaly and polymicrogyria with post-axial polydactyly and hydrocephalus (MPPH syndrome) in an 18-month-old girl. She was the first child of healthy non-consanguineous parents and measurements at birth were +3 standard deviations (S.D.) for weight, +2 S.D. for length and +4 S.D. for OFC. Ultrasound scan at 24 weeks of gestation (WG) showed mild ventriculomagaly with unique umbilical artery and dacryocystocele. Clinical examination at birth revealed macrosomia with macrocephaly, facial dysmorphism, post-axial polydactyly at the right hand and both feet, and axial hypotonia with hypertonic arms and legs. At 18 months of age, weight was +2 S.D., length was +2 S.D. and OFC was +4 S.D. She remained hypertonic, could not sit and had no hand use. Cerebral magnetic resonance imaging showed stable ventriculomegaly and polymicrogyria located on the frontal and perisylvian region with white matter hypersignal on T2-weighted images. There was no associated visceral malformation. Standard and high-resolution cytogenetic examination, telomeric FISH and array-CGH studies were normal. This case represents the sixth observation of MPPH syndrome as described by Mirzaa et al. in 2004. We provide further neurological follow-up since three out of five index patients were aged 6 months or less. We postulate that macrosomia at birth might be a major feature (five/six cases), with advanced bone age in the two/two investigated cases. White matter abnormalities might be an occasional feature of this syndrome (three/six cases), as well as dacryocystocele, if not coincidental (one/six case). The mode of inheritance of this syndrome remains unknown since there was no significant family history in all reported cases. The search for infracytogenetic chromosomal imbalance was unsuccessful.
我们报告了一例18个月大女童患巨头畸形、多小脑回并轴后多指（趾）畸形和脑积水（MPPH综合征）的新病例。她是健康非近亲父母的第一个孩子，出生时体重高于平均水平3个标准差（S.D.），身长高于平均水平2个标准差，头围高于平均水平4个标准差。妊娠24周（WG）时的超声扫描显示轻度脑室扩大，伴有独特的脐动脉和泪囊膨出。出生时的临床检查发现患儿为巨大儿且头大，面部畸形，右手和双脚均有轴后多指（趾）畸形，以及轴向肌张力减退伴上肢和下肢张力亢进。18个月大时，体重高于平均水平2个标准差，身长高于平均水平2个标准差，头围高于平均水平4个标准差。她仍有张力亢进，不能坐立，且不会使用双手。脑磁共振成像显示脑室扩大稳定，额叶和颞周区域有多小脑回，T2加权图像上有白质高信号。未发现相关的内脏畸形。标准和高分辨率细胞遗传学检查、端粒荧光原位杂交（FISH）和阵列比较基因组杂交（array-CGH）研究均正常。该病例是2004年米尔扎等人描述的MPPH综合征的第六例观察病例。由于五例索引患者中有三例年龄在6个月或以下，我们提供了进一步的神经学随访。我们推测出生时巨大儿可能是一个主要特征（六例中有五例），在两例已调查病例中骨龄提前。白质异常可能是该综合征的一个偶然特征（六例中有三例），泪囊膨出也是如此，若并非巧合则为六例中有一例。由于所有报告病例均无明显家族史，该综合征的遗传方式仍不清楚。对细胞遗传学下的染色体失衡的搜索未成功。
