El-Hawrani Amged, Sohn Melanie, Noga Michelle, El-Hakim Hamdy
Pediatric Otolaryngology, Division of Pediatric Surgery, The Stollery Children's Hospital, Edmonton, Alta., Canada.
Int J Pediatr Otorhinolaryngol. 2006 May;70(5):935-40. doi: 10.1016/j.ijporl.2005.09.020. Epub 2005 Nov 8.
When the embryonic forebrain (the prosencephalon) fails to sufficiently divide into the two cerebral hemispheres, holoprosencephaly (HPE) results. This disorder can result in various skull and facial defects with brain abnormalities of varying severity. These brain defects ultimately dictate the prognosis. This varies from death in utero, to normal or near normal brain development. In these less severe cases, otherwise normally developing babies are born with rarely seen midfacial cleft deformities, giving away a structural brain deformity. We report a case of an otherwise developmentally normal seven-year-old boy who was being assessed for nasal obstruction and rhinorrhea. Investigation directed by a high index of suspicion uncovered an occult case of holoprosencephaly.
当胚胎前脑(即端脑)未能充分分化为两个脑半球时,就会导致全前脑畸形(HPE)。这种疾病会导致各种颅骨和面部缺陷以及严重程度各异的脑部异常。这些脑部缺陷最终决定了预后情况。预后范围从子宫内死亡到正常或接近正常的脑部发育。在这些不太严重的病例中,原本发育正常的婴儿出生时会伴有罕见的面中部腭裂畸形,从而暴露出结构性脑部畸形。我们报告了一例病例,一名原本发育正常的七岁男孩因鼻塞和鼻漏接受评估。高度怀疑引发的进一步检查发现了一例隐匿性全前脑畸形病例。