Nucci Paolo, de Conciliis Carlo, Sacchi Matteo, Serafino Massimiliano
Eye Clinic, San Giuseppe Hospital, University of Milan, Italy.
Clin Ophthalmol. 2011;5:907-11. doi: 10.2147/OPTH.S21333. Epub 2011 Jul 4.
We present the first case of a congenital form of silent brain syndrome (SBS) in a young patient affected by Hallermann-Streiff syndrome (HSS) and the surgical management of the associated eyelid anomalies.
HSS signs were evaluated according to the Francois criteria. Orbital computed tomography (CT) and genetic analysis were performed. An upper eyelid retractor-free recession was performed. Follow-up visits were performed at day 1, weeks 1 and 3, and months 3, 6, 9 (for both eyes), and 12 (for left eye) after surgery.
The patient exhibited six of the seven signs of HSS. Orbital CT showed bilateral enophthalmos and upward bowing of the orbital roof with air entrapment under the upper eyelid as previously described for SBS. Genetic analysis showed a 2q polymorphism. During follow-up, the cornea showed absence of epithelial damage and the upper eyelids were lowered symmetrically, with a regular contour.
Our HSS patient shares features with SBS. We postulate that SBS could include more than one pattern, ie, an acquired form following ventriculoperitoneal shunting and this newly reported congenital form in our HSS patient in whom typical syndromic skull anomalies led to this condition. The surgical treatment has been effective in restoring an appropriate lid level, with good globe apposition and a good cosmetic result.
我们报告了首例患有哈勒曼-施特雷夫综合征（HSS）的年轻患者出现先天性形式的静息脑综合征（SBS）的病例以及相关眼睑异常的手术治疗情况。
根据弗朗索瓦标准评估HSS体征。进行了眼眶计算机断层扫描（CT）和基因分析。实施了上睑提肌无附着后退术。术后第1天、第1周和第3周以及第3、6、9个月（双眼）和第12个月（左眼）进行随访。
该患者表现出HSS的七个体征中的六个。眼眶CT显示双侧眼球内陷以及眶顶向上弓形弯曲，上睑下有气体潴留，如先前针对SBS所描述的那样。基因分析显示2q多态性。在随访期间，角膜未出现上皮损伤，上睑对称下垂，外形规则。
我们的HSS患者具有与SBS相同的特征。我们推测SBS可能包括不止一种类型，即脑室腹腔分流术后的后天性形式以及我们的HSS患者中这种新报告的先天性形式，在该患者中典型的综合征性颅骨异常导致了这种情况。手术治疗有效地恢复了适当的眼睑水平，眼球贴合良好，美容效果良好。
