Tubbs R Shane, Oakes W Jerry
Department of Cell Biology and Section of Pediatric Neurosurgery, University of Alabama at Birmingham, USA.
J Neurosurg. 2005 Aug;103(2 Suppl):172-4. doi: 10.3171/ped.2005.103.2.0172.
The authors present the case of a child diagnosed as having Beckwith-Wiedemann syndrome and Chiari I malformation. Hemihypertrophy is associated with Beckwith-Wiedemann syndrome and has been described in conjunction with Chiari I malformation. The authors hypothesize that the hemihypertrophy that may involve the skull base and Chiari I malformation found in their patient are not spurious findings but are pathologically related, perhaps by slight dysmorphologies of the posterior cranial fossa.
作者报告了一例被诊断为患有贝克威思-维德曼综合征和Chiari I型畸形的儿童病例。半身肥大与贝克威思-维德曼综合征相关,并且已被描述为与Chiari I型畸形同时出现。作者推测,他们患者中可能累及颅底的半身肥大和Chiari I型畸形并非虚假发现,而是在病理上相关,可能是由于后颅窝的轻微形态异常。