Background

Senior-Løken syndrome (SLS) is a rare autosomal recessive disease characterised by nephronophthisis and retinal degeneration, and belongs to a group of genetically heterogeneous disorders known as the ciliopathies.

Materials and Methods

Case report of a patient with genetically proven SLS presenting with headaches and swollen optic nerve heads, review of medical notes and ophthalmic imaging, with retinal photography, fundus autofluorescence, and OCT retinal nerve fibre layer analysis.

Results

We present findings in a 15 year old girl with Senior-Løken syndrome associated with compound heterozygous mutations in the SDCCAG8 gene, who initially presented with a retinal dystrophy, and subsequent renal failure requiring renal transplantation and immunosuppression. Four and a half years later, she presented with headaches, reduced vision and clinical findings of papilloedema. Cerebrospinal fluid analysis revealed a high opening pressure of 37cmH₂0 and neuroimaging was otherwise unremarkable. Treatment with a reduced dose of oral acetazolamide resulted in symptomatic relief of headaches, and resolution of optic nerve swelling.

Conclusion

The association of intracranial hypertension in a ciliopathy is a rare occurrence. The aetiology of intracranial hypertension in this case is likely multi-factorial, due to renal transplantation, post-renal transplant medications and/ or weight gain. With evidence of cilia involvement in the central nervous system, ciliary dysfunction may contribute to intracranial hypertension, and should be considered in these patients presenting with headaches. Diagnosis may be difficult with advanced retinal degeneration and baseline retinal nerve fibre layer thinning. Treatment requires careful monitoring of renal function.

中文翻译：

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老年Løken综合征和颅内高压。

背景

Senior-Løken综合征（SLS）是一种罕见的常染色体隐性遗传疾病，以肾病和视网膜变性为特征，属于一组遗传性异质性疾病，称为纤毛病。

材料和方法

经遗传学证实为SLS的患者的病例报告，伴有头痛和视神经乳头肿胀，医学笔记和眼科影像检查，视网膜摄影，眼底自发荧光和OCT视网膜神经纤维层分析。

结果

我们介绍了一个15岁的高级Løken综合征女孩的发现，该女孩与SDCCAG8基因中的复合杂合突变有关，该女孩最初表现为视网膜营养不良，随后出现肾衰竭，需要进行肾移植和免疫抑制。四年半后，她出现头痛，视力下降和乳头水肿的临床表现。脑脊液分析显示37cmH ₂ 0的高打开压力，否则神经影像学检查不明显。减少剂量的口服乙酰唑胺治疗可缓解头痛，并缓解视神经肿胀。

结论

颅内高压与睫状病变的关系很少见。在这种情况下，由于肾移植，肾移植后药物和/或体重增加，颅内高压的病因可能是多因素的。有纤毛参与中枢神经系统的证据，睫状功能障碍可能会导致颅内高压，在这些头痛患者中应考虑使用纤毛功能障碍。晚期视网膜变性和基线视网膜神经纤维层变薄可能难以诊断。治疗需要仔细监测肾功能。