Seaver L H, Joffe L, Spark R P, Smith B L, Hoyme H E
Department of Pediatrics, Steele Memorial Children's Research Center, Tucson, Arizona.
Am J Med Genet. 1993 Apr 15;46(2):203-8. doi: 10.1002/ajmg.1320460221.
An apparently autosomal recessive syndrome of hereditary vitreoretinal degeneration (VRD) with retinal detachment, high myopia, and congenital encephalocele was described in 1971 by Knobloch and Layer [J Pediatr Ophthalmol 8:181-184]. Clinical confirmation of the presence of encephaloceles was lacking, and no neuropathologic studies were reported. We have evaluated a similarly affected family with 2 sibs with high myopia, VRD, and occipital scalp defects. Histologic examination of the scalp defects showed heterotopic neuronal tissue in both instances. The older girl has had a unilateral retinal detachment. Her other eye and both eyes of the younger sib have so far been treated successfully with prophylactic retinal cryotherapy. Both children have normal to above normal intelligence. The family reported by Knobloch and Layer [1971] and the sibship herein described appear to represent a distinct autosomal recessive trait. Analysis of the associated defects suggests an underlying defect in early cephalic neuroectodermal morphogenesis. Data from these families imply that congenital occipital scalp defects rather than true encephaloceles may, as is true in some cases of Meckel syndrome, accompany Knobloch syndrome. The presence of a congenital midline scalp defect should alert the clinician to possible underlying central nervous system and/or ocular pathology and should lead to consideration of further diagnostic evaluations and prophylactic measures.
1971年，诺布洛赫（Knobloch）和莱耶（Layer）描述了一种明显为常染色体隐性遗传的遗传性玻璃体视网膜变性（VRD）综合征，伴有视网膜脱离、高度近视和先天性脑膨出[《小儿眼科杂志》8:181 - 184]。当时缺乏对脑膨出存在的临床确认，也未报告神经病理学研究。我们评估了一个类似受累的家庭，该家庭中有2名患有高度近视、VRD和枕部头皮缺损的同胞。对头皮缺损的组织学检查显示，在这两个病例中均存在异位神经元组织。年龄较大的女孩发生了单侧视网膜脱离。她的另一只眼睛以及年龄较小同胞的双眼目前通过预防性视网膜冷冻疗法已成功治疗。两个孩子的智力均正常或高于正常水平。诺布洛赫和莱耶[1971年]报告的家庭以及本文描述的同胞关系似乎代表了一种独特的常染色体隐性性状。对相关缺陷的分析表明，早期头部神经外胚层形态发生存在潜在缺陷。来自这些家庭的数据表明，正如梅克尔综合征的某些病例一样，先天性枕部头皮缺损而非真正的脑膨出可能与诺布洛赫综合征相伴。先天性中线头皮缺损的存在应提醒临床医生注意可能存在的潜在中枢神经系统和/或眼部病变，并应促使考虑进一步的诊断评估和预防措施。
