Background

Headache and Neurological Deficits with cerebrospinal fluid (CSF) Lymphocytosis (HaNDL) is an increasingly recognised syndrome but the aetiology remains unclear. HaNDL has striking clinical features similar to Familial Hemiplegic Migraine (FHM), commonly related to gene mutations encoding the P/Q-type voltage-gated calcium channel (VGCC).

Case report

We report a case of HaNDL associated with high P/Q-type voltage-gated calcium channel antibodies. Extensive investigations excluded alternative diagnoses and CSF lymphocytosis resolved within 3 months. The case was complicated by raised intracranial pressure resulting in an enlarged blind spot, papilloedema and bilateral lateral rectus palsies.

Conclusion

This novel association of P/Q-type voltage-gated calcium channel antibodies with HaNDL has implications for the pathology of HaNDL and spectrum of voltage-gated calcium channel-antibody disorders. We compare the clinical features of FHM and HaNDL and the potential pathological role of these antibodies. This case also highlights that raised intracranial pressure is a common feature of HaNDL, rarely resulting in serious complications.

中文翻译：

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病例报告：与 P/Q 型电压门控钙通道抗体 (CACNA1A) 相关的脑脊液淋巴细胞增多症 (HaNDL) 的头痛和神经功能缺损。

背景

脑脊液 (CSF) 淋巴细胞增多症 (HaNDL) 引起的头痛和神经功能障碍是一种越来越被认可的综合征，但病因尚不清楚。HaNDL 具有与家族性偏瘫偏头痛 (FHM) 相似的显着临床特征，通常与编码 P/Q 型电压门控钙通道 (VGCC) 的基因突变有关。

案例报告

我们报告了一例与高 P/Q 型电压门控钙通道抗体相关的 HaNDL。广泛的调查排除了其他诊断和 CSF 淋巴细胞增多症在 3 个月内解决。该病例因颅内压升高导致盲点扩大、视乳头水肿和双侧外直肌麻痹而变得复杂。

结论

P/Q 型电压门控钙通道抗体与 HaNDL 的这种新关联对 HaNDL 的病理学和电压门控钙通道抗体疾病谱有影响。我们比较了 FHM 和 HaNDL 的临床特征以及这些抗体的潜在病理作用。该病例还强调，颅内压升高是 HaNDL 的一个共同特征，很少会导致严重的并发症。