Department of Radiology, Perth Children's Hospital, Perth, WA, Australia.
University of Western Australia, Crawley, Perth, WA, Australia.
Childs Nerv Syst. 2024 Apr;40(4):997-1003. doi: 10.1007/s00381-024-06299-7. Epub 2024 Feb 1.
Chiari malformations are a rare group of rhomboencephalic abnormalities involving the brain, craniocervical junction and spine. They may manifest in a variety of clinical presentations which relate to the variable involvement of the cerebellum, brainstem, lower cranial nerves, spinal cord and altered CSF flow dynamics.
We report an unusual case of incidental diagnosis of a type I Chiari malformation with secondary cystic cerebellar tonsillar encephalomalacia and holocord syrinx following investigation of a 5YO girl presenting with heel swelling related to progressive neuropathic osteoarthropathy of the posterior calcaneal body and apophysis.
The child was treated with decompressive suboccipital craniectomy and C1 laminectomy and tonsillar resection. Cerebellar tonsillar gliosis and cystic degeneration were confirmed on histopathology. Referral for ongoing engagement with occupational and physical therapy.
Most type I Chiari malformations in the paediatric population are incidental and asymptomatic. Neurological symptoms are typically mild and relate to altered CSF flow dynamics; however, we present a complex case of type I Chiari malformation with an unusual constellation of associated complications.
Chiari 畸形是一组罕见的脑、颅颈交界区和脊柱的菱脑畸形。它们可能以多种临床表现为特征，这些表现与小脑、脑干、颅神经、脊髓的不同受累以及改变的 CSF 流动动力学有关。
我们报告了一例不常见的病例，一名 5 岁女孩因足跟肿胀导致进行性神经病变性骨关节炎和后跟骨体和突的后发性骨关节炎而就诊，随后诊断为 1 型 Chiari 畸形伴继发性囊性小脑扁桃体脑软化和全脊髓空洞症。
患儿接受了枕下减压颅后窝切除术和 C1 椎板切除术及扁桃体切除术。小脑扁桃体神经胶质增生和囊性变性在组织病理学上得到证实。转介进行职业和物理治疗的持续参与。
大多数小儿 1 型 Chiari 畸形是偶然发生的且无症状。神经系统症状通常较轻，与改变的 CSF 流动动力学有关；然而，我们提出了一例复杂的 1 型 Chiari 畸形病例，伴有不常见的相关并发症。
