Abstract: FR-PO449
Headache and Diplopia in Identical Twins With Nephropathic Cystinosis
Session Information
- Pediatric Nephrology - I
November 04, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1102 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Alvi, Arsalan Ahmad, University of Minnesota Division of Renal Diseases and Hypertension, Minneapolis, Minnesota, United States
- Elfering, Sarah L., University of Minnesota Division of Renal Diseases and Hypertension, Minneapolis, Minnesota, United States
Introduction
Cystinosis is an autosomal recessive lysosomal storage disease characterized by the accumulation of cystine in various organs due to a variant in the CTNS gene. Infantile nephropathic cystinosis presents in infancy with failure to thrive and results in kidney failure. There are many non-renal manifestations. We report identical twins with nephropathic cystinosis who both developed idiopathic intracranial hypertension (IIH).
Case Description
Case 1 is a female kidney transplant recipient with infantile nephropathic cystinosis who developed symptoms of headache, nausea and diplopia at age 33. Evaluation revealed bilateral optic disc swelling. Brain MRI/MRV was normal and opening pressure was elevated on lumbar puncture. IIH was diagnosed and managed with acetazolamide. Ultimately, a ventriculoperitoneal shunt was required.
Case 2 is a female identical twin of case 1, also a kidney transplant recipient, with nephropathic cystinosis who developed headache and vomiting at age 35. Evaluation revealed papilledema, an elevated opening pressure (50 cm) on lumbar puncture and normal brain MRI. She was treated with acetazolamide. Her papilledema and symptoms resolved. After 2 years, acetazolamide was discontinued and symptoms have not recurred.
Discussion
We present a case of identical twins who developed IIH. It has been speculated that IIH is a late complication of cystinosis. Both IIH and cystinosis are rare but IIH has been reported to occur in patients with cystinosis at a higher rate compared to the general population. This case of identical twins with cystinosis and IIH contributes to the literature regarding the connection between these two diseases. Though genetic associations with IIH have been identified, none are on chromosome 17 (location of CTNS gene) so we suspect these twins did not have genetic variant causing IIH. It is theorized that cystine crystals deposit in meninges and arachnoid villi, leading to decreased absorption of CSF. Patients with cystinosis presenting with headaches and diplopia should be evaluated for IIH.