Department of Neurology, Shengjing Hospital of China Medical University, Shenyang, Liaoning, PR China.
Department of Endocrinology, Shengjing Hospital of China Medical University, Shenyang, Liaoning, PR China.
Ann N Y Acad Sci. 2021 Nov;1503(1):38-47. doi: 10.1111/nyas.14584. Epub 2021 Mar 4.
We describe symptomatic spinal cord compression associated with pseudohypoparathyroidism (PHP) in a young female patient and reviewed similar cases previously reported in the literature. The characteristics of these cases were analyzed from etiology, clinical subtypes, symptoms, treatment, and prognosis. Neurological examination revealed functional upper extremities with bilateral lower extremity paraplegia. Laboratory tests showed hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone; high-throughput sequencing showed a heterozygous GNAS mutation in exon 12, specifically c.1006C > T (p.R336W). Imaging findings showed multilevel spinal stenosis with significant spinal cord compression at the T2-T3 level. Seventeen cases with similar characteristics were reviewed. We found that the primary clinical manifestation of these patients was bilateral lower extremity spastic paraplegia. Multilevel spinal cord compression was commonly observed, especially at the lower cervical and upper thoracic spinal cord. Most of the patients had poor surgical treatment outcome and prognosis. Clinicians should be aware of paraplegia due to spinal cord compression as a rare neurological complication in patients with PHP. Early diagnosis and treatment of PHP is one basis for preventing severe spinal cord-related complications.
我们描述了一位年轻女性患者伴假性甲状旁腺功能减退症（PHP）的症状性脊髓压迫，并复习了文献中先前报道的类似病例。从病因、临床亚型、症状、治疗和预后等方面对这些病例的特征进行了分析。神经学检查显示上肢功能正常，下肢双侧截瘫。实验室检查显示低钙血症、高磷血症和甲状旁腺激素升高；高通量测序显示 12 号外显子存在杂合 GNAS 突变，具体为 c.1006C > T（p.R336W）。影像学发现多节段性脊髓狭窄，T2-T3 水平脊髓受压明显。共复习了 17 例具有相似特征的病例。我们发现这些患者的主要临床表现为双侧下肢痉挛性截瘫。多节段脊髓压迫很常见，尤其是在下颈段和上胸段脊髓。大多数患者的手术治疗效果和预后较差。临床医生应意识到，PHP 患者出现脊髓压迫导致的截瘫是一种罕见的神经系统并发症。早期诊断和治疗 PHP 是预防严重脊髓相关并发症的基础之一。
