Della Giustina Elvio, Iodice Alessandro, Spagnoli Carlotta, Giovannini Simona, Frattini Daniele, Fusco Carlo, Gobbi Giuseppe, Zollino Marcella, Neri Giovanni
Child Neurology Unit, IRCCS, Santa Maria Nuova Hospital, Reggio Emilia, Italy.
Child Neurology Unit, Bellaria Hospital, IRCCS Institute of Neurological Sciences, Bologna, Italy.
Am J Med Genet A. 2017 Dec;173(12):3216-3220. doi: 10.1002/ajmg.a.38378.
We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpus callosum and incomplete rotation of the left hippocampus in a clinical setting of motor and intellectual disability with poor language, and social behavior abnormalities with aggressiveness. Some possible correlations between clinical signs and symptoms and various aspects of the complex brain malformation are briefly discussed and compared with other known abnormalities of chromosome 14. The different neuropathology of the most common forms and the new forms of holoprosencephaly recently described is also discussed and leads us to suggest classifying the interhemispheric fusion of this case as a "minimal" form of holoprosencephaly. This appears to be the first description in a 14q deletion patient.
我们报告了一名患有14号染色体长臂末端缺失的患者，其大脑半球间融合仅限于中线前额叶皮质，伴有胼胝体发育不全和左海马体旋转不完全，临床表现为运动和智力残疾、语言能力差以及具有攻击性的社会行为异常。本文简要讨论了临床体征和症状与复杂脑畸形各方面之间的一些可能关联，并与14号染色体的其他已知异常进行了比较。还讨论了最近描述的最常见全前脑畸形形式和新形式的不同神经病理学，这使我们建议将该病例的半球间融合归类为全前脑畸形的“最小”形式。这似乎是14q缺失患者中的首例描述。
