Nassim Hala M, Alabdulqader Reem A, Najmi Hatim, Alsawadi Hend M, Alotaibi Hammam A
Department of Ophthalmology, Imam Abdulrahman Bin Faisal University, Khobar, SAU.
Department of Ophthalmology, Dhahran Eye Specialist Hospital, Dhahran, SAU.
Cureus. 2023 May 12;15(5):e38922. doi: 10.7759/cureus.38922. eCollection 2023 May.
A baby girl who underwent cesarean section delivery and had a complicated postnatal course requiring neonatal intensive care unit (NICU) is followed in the pediatrics clinic for several months. At five months old, the baby girl was referred to an ophthalmology clinic with brain stem and cerebellum malformation consistent with the molar tooth sign (MTS) on magnetic resonance imaging (MRI) of the brain, hypotonia, and developmental delay. She has the classic features of Joubert Syndrome (JS). Other findings not typically associated with the clinical picture of the syndrome were observed in this patient, specifically skin capillary hemangioma of the forehead. Cutaneous capillary hemangioma was an incidental finding in this JS patient and responded favorably to medical treatment with propranolol where a significant reduction in the size of the mass was observed. This incidental finding can be seen as a potential addition to the spectrum of associated findings in JS.
一名接受剖宫产分娩且产后病程复杂、需要入住新生儿重症监护病房(NICU)的女婴,在儿科门诊随访了数月。五个月大时,该女婴因脑磁共振成像(MRI)显示脑干和小脑畸形符合磨牙征(MTS)、肌张力低下和发育迟缓,被转诊至眼科门诊。她具有 Joubert 综合征(JS)的典型特征。在该患者中还观察到了一些通常与该综合征临床表现不相关的其他发现,特别是前额皮肤毛细血管瘤。皮肤毛细血管瘤是该 JS 患者的一个偶然发现,使用普萘洛尔进行药物治疗后反应良好,肿块大小明显减小。这一偶然发现可被视为 JS 相关发现谱的一个潜在补充。