Abstract: TH-PO613

Headache and Diplopia in a Patient with Nephropathic Cystinosis

Session Information

Category: Nephrology Education

  • 1302 Fellows and Residents Case Reports

Authors

  • Kerkvliet, Stephanie Perez, University of Minnesota, Minneapolis, Minnesota, United States
  • Elfering, Sarah L., University of Minnesota, Minneapolis, Minnesota, United States
Background

Nephropathic cystinosis is a lysosomal storage disease resulting in the accumulation of cystine, development of Fanconi syndrome, and progression to end-stage renal disease. Extrarenal manifestations of cystinosis affecting the endocrine, muscular, and ophthalmologic systems have been well described. However, idiopathic intracranial hypertension (IIH) is a rare and poorly understood condition associated with cystinosis.

Methods

A 33 year old female with nephropathic cystinosis three years status post living donor kidney transplant on immunosuppressive therapy had been experiencing one month of headache, diplopia, and nausea. Approximately one and a half years prior to presentation, she had switched from cysteamine bitartrate (Cystagon) to extended release cysteamine bitartrate (Procysbi), both of which are cystine depleting agents. Four months prior to presentation, her WBC cystine level was subtherapeutic, and her Procysbi dose was increased. Dilated retinal exam revealed bilateral optic disc swelling and right optic disc hemorrhage. Additional workup revealed an elevated lumbar CSF opening pressure with unremarkable MRI and MRV consistent with IIH. Her symptoms and papilledema improved with acetazolamide, discontinuation of Procysbi, and resumption of Cystagon.

Conclusion

There is a known increased incidence of IIH in individuals with cystinosis; although, the underlying cause is unknown. Potential etiologies include decreased CSF reabsorption secondary to crystal deposition or increased thrombotic risk secondary to renal disease. Additional risk factors such as immunosuppressive therapy, growth hormone supplementation, and renal transplant have been associated with IIH, but no study has correlated a specific risk factor with development of IIH in patients with cystinosis. Procysbi is reported to have a more favorable side effect profile and less medication noncompliance compared to Cystagon due to twice rather than four times daily dosing. However, in the setting of subtherapeutic WBC cystine levels with Procysbi, the patient developed IIH. This case highlights the rare, but known, association between cystinosis and IIH, and encourages clinicians to consider this diagnosis in patients with cystinosis presenting with headache and vision changes.