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Symptomatic spinal cord compression: an uncommon symptom in pseudohypoparathyroidism
Annals of the New York Academy of Sciences ( IF 4.1 ) Pub Date : 2021-03-04 , DOI: 10.1111/nyas.14584 Xiaoping Tan 1 , Yang Guo 1 , Yan Liu 1 , Cong Liu 2 , Lina Pei 2
Annals of the New York Academy of Sciences ( IF 4.1 ) Pub Date : 2021-03-04 , DOI: 10.1111/nyas.14584 Xiaoping Tan 1 , Yang Guo 1 , Yan Liu 1 , Cong Liu 2 , Lina Pei 2
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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.
中文翻译：
症状性脊髓压迫：假性甲状旁腺功能减退症的罕见症状
我们在一名年轻女性患者中描述了与假性甲状旁腺功能减退 (PHP) 相关的症状性脊髓压迫，并回顾了先前在文献中报道的类似病例。从病因、临床亚型、症状、治疗、预后等方面分析这些病例的特点。神经系统检查显示双侧下肢截瘫的功能性上肢。实验室检查显示低钙血症、高磷血症和甲状旁腺激素升高；高通量测序显示杂合的GNAS外显子 12 中的突变，特别是 c.1006C > T (p.R336W)。影像学结果显示多节段椎管狭窄，在 T2-T3 水平有明显的脊髓压迫。审查了具有相似特征的 17 个案例。我们发现这些患者的主要临床表现是双下肢痉挛性截瘫。通常观察到多节段脊髓受压，特别是在下颈椎和上胸椎脊髓。大多数患者的手术治疗结果和预后较差。临床医生应该意识到由于脊髓压迫导致的截瘫是 PHP 患者的一种罕见的神经系统并发症。PHP的早期诊断和治疗是预防严重脊髓相关并发症的基础之一。
更新日期：2021-03-04
中文翻译：
症状性脊髓压迫：假性甲状旁腺功能减退症的罕见症状
我们在一名年轻女性患者中描述了与假性甲状旁腺功能减退 (PHP) 相关的症状性脊髓压迫，并回顾了先前在文献中报道的类似病例。从病因、临床亚型、症状、治疗、预后等方面分析这些病例的特点。神经系统检查显示双侧下肢截瘫的功能性上肢。实验室检查显示低钙血症、高磷血症和甲状旁腺激素升高；高通量测序显示杂合的GNAS外显子 12 中的突变，特别是 c.1006C > T (p.R336W)。影像学结果显示多节段椎管狭窄，在 T2-T3 水平有明显的脊髓压迫。审查了具有相似特征的 17 个案例。我们发现这些患者的主要临床表现是双下肢痉挛性截瘫。通常观察到多节段脊髓受压，特别是在下颈椎和上胸椎脊髓。大多数患者的手术治疗结果和预后较差。临床医生应该意识到由于脊髓压迫导致的截瘫是 PHP 患者的一种罕见的神经系统并发症。PHP的早期诊断和治疗是预防严重脊髓相关并发症的基础之一。
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