Division of Neurosurgery, Children's Hospital Colorado, Aurora, Colorado, USA.
College of Osteopathic Medicine, Rocky Vista University, Parker, Colorado, USA.
Pediatr Neurosurg. 2024;59(4):165-172. doi: 10.1159/000540756. Epub 2024 Aug 12.
Penttinen premature aging syndrome is caused by mutations in the PDGFRB gene. We describe the case of a 10-year-old girl with a de novo c.1994T>C variant in PDGFRB who developed multiple cranial, intracranial, and spinal manifestations, including macrocephaly, enlarged convexity subarachnoid spaces crossed by numerous vascularized arachnoid trabecule, hydrocephalus, spinal epidural lipomatosis, a low conus medullaris, calvarial thinning with large anterior fontanelle, and a skull fracture with bilateral epidural hematomas. Vascularized arachnoid granulations, spinal epidural lipomatosis, and low conus medullaris have not been previously described in Penttinen syndrome.
A female with Penttinen syndrome diagnosed at 9 years of age initially presented as an infant with cutaneous hemangiomas and macrocephaly; imaging showed enlarged convexity subarachnoid spaces. Her convexity subarachnoid spaces continued to expand, leading to subdural shunt placement. At surgery, her enlarged subarachnoid spaces were found to contain numerous abnormally thick, vascularized arachnoid trabecule. Eventually, her subdural shunt failed and her ventricles enlarged, leading to ventricular shunt placement. A large, sunken anterior fontanelle which did not diminish in size led to cranioplasty with a custom implant. She later developed chronic back pain and imaging revealed spinal epidural lipomatosis, a low conus medullaris, and mild scoliosis. At 10 years of age, a fall from a chair resulted in a depressed skull fracture and bilateral parietal epidural hematomas. Emergency left parietal craniotomy was performed for evacuation of the left hematoma, and the patient recovered without complications. Intraoperatively, it was noted that her skull was extremely thin.
This case report highlights the clinical presentation and multifaceted neurosurgical management of a patient with Penttinen syndrome. The patient exhibited characteristic features including hypertrophic skin lesions, macrocephaly, and skeletal abnormalities. Our patient's vascularized arachnoid trabecule, spinal epidural lipomatosis, and low conus medullaris have not previously been reported in Penttinen syndrome. Her thin skull potentially contributed to the extent of her depressed skull fracture after her backwards fall and predisposed her toward developing epidural hematomas. Patients with Penttinen syndrome can have multiple cranial, intracranial, and spinal manifestations which may need the attention of a neurosurgeon.
Penttinen 早衰综合征是由 PDGFRB 基因突变引起的。我们描述了一位 10 岁女孩的病例，她患有从头侧到尾侧的 PDGFRB 基因 c.1994T>C 变异，表现为多种颅、颅内和脊柱表现，包括大头畸形、凸面蛛网膜下腔扩大，有许多血管化蛛网膜小梁穿过，脑积水，脊髓硬膜外脂肪增多，圆锥低位，颅盖变薄，前囟宽大，颅骨骨折合并双侧硬膜外血肿。血管化蛛网膜颗粒、脊髓硬膜外脂肪增多和圆锥低位以前未在 Penttinen 综合征中描述过。
一位 9 岁被诊断为 Penttinen 综合征的女性最初在婴儿期表现为皮肤血管瘤和大头畸形；影像学显示凸面蛛网膜下腔扩大。她的凸面蛛网膜下腔继续扩大，导致行硬膜下分流术。手术中发现她扩大的蛛网膜下腔中有许多异常增厚的、血管化的蛛网膜小梁。最终，她的硬膜下分流术失败，脑室扩大，导致脑室分流术。一个大的、凹陷的前囟门没有变小，导致使用定制植入物进行颅骨成形术。后来她出现慢性背痛，影像学显示脊髓硬膜外脂肪增多、圆锥低位和轻度脊柱侧凸。10 岁时，她从椅子上摔下来导致颅骨凹陷性骨折和双侧顶骨硬膜外血肿。紧急行左顶骨开颅术清除左血肿，患者无并发症恢复。术中发现她的颅骨非常薄。
本病例报告强调了一位 Penttinen 综合征患者的临床表现和多方面的神经外科治疗。患者表现出特征性的特征，包括肥大的皮肤损伤、大头畸形和骨骼异常。我们的患者有血管化的蛛网膜小梁、脊髓硬膜外脂肪增多和圆锥低位，以前没有在 Penttinen 综合征中报道过。她的薄颅骨可能导致她向后摔倒后的颅骨凹陷性骨折程度严重，并使她容易发生硬膜外血肿。Penttinen 综合征患者可出现多种颅、颅内和脊柱表现，可能需要神经外科医生的关注。
