Naous Amal, Shatila Abdel Rahman, Naja Zeina, Naja Ahmad Salaheddine, Rajab Mariam
Department of Pediatrics, Makassed General Hospital, Beirut, Lebanon.
Child Neurol Open. 2015 Feb 13;2(1):2329048X14553297. doi: 10.1177/2329048X14553297. eCollection 2015 Jan-Mar.
Encephalocraniocutaneous lipomatosis or Haberland syndrome is a rare, congenital neurocutaneous syndrome. It is characterized by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations. We describe the first case from Lebanon, an infant with classical encephalocraniocutaneous lipomatosis characterized by nevus psiloliparus, unilateral right facial and frontal-temporal subcutaneous lipomas, alopecia, ocular coloboma, aniridia and eyelid nodular tags, ventriculomegaly with intracranial and intraspinal lipomas, and tethered spinal cord. We report this case of rare association between encephalocraniocutaneous lipomatosis and tethered spinal cord syndrome and stress on the importance of spinal cord evaluation in encephalocraniocutaneous lipomatosis.
脑颅皮肤脂肪瘤病或哈伯兰德综合征是一种罕见的先天性神经皮肤综合征。其特征为头皮、眼睑和眼球外侧面的单侧脂肪瘤样错构瘤以及同侧神经畸形。我们描述了黎巴嫩的首例病例,一名患有典型脑颅皮肤脂肪瘤病的婴儿,其特征为光滑脂肪瘤、右侧面部及额颞部单侧皮下脂肪瘤、脱发、眼裂、无虹膜和眼睑结节状赘生物、伴有颅内和椎管内脂肪瘤的脑室扩大以及脊髓栓系。我们报告了这例脑颅皮肤脂肪瘤病与脊髓栓系综合征罕见关联的病例,并强调了在脑颅皮肤脂肪瘤病中进行脊髓评估的重要性。