ArticleThe Journal of pediatrics2015
Chiari I Malformation in Nephropathic Cystinosis.
Article in The Journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.Nature reviews. Nephrology · 2026Review
- A behavioral and electrophysiological investigation of conflict monitoring in cystinosis (CTNS gene mutations) using the flanker paradigm.Frontiers in nephrology · 2026Article
- The assessment and treatment of the musculoskeletal manifestations of cystinosis.Frontiers in nephrology · 2025Review
- Review
- Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis.Orphanet journal of rare diseases · 2020Article
- Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital.JIMD reports · 2017Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo determine the relative incidence of Chiari I malformations in children with cystinosis compared with those in the general population. STUDY
designMagnetic resonance imaging scans were performed on 53 patients with nephropathic cystinosis and 120 controls, age range 3-18 years.
resultsTen of 53 (18.9%) patients with cystinosis had Chiari I or tonsillar ectopia, and only 2 of 120 controls (1.6%) had a similar finding. At least 2 of the patients had symptoms or signs thought to be related to the malformation, and one had surgical decompression. Two had an associated cervical syrinx.
conclusionsChildren with cystinosis have a 12-fold higher prevalence of Chiari I malformations than the general pediatric population. Chiari I malformations should be high on the differential diagnosis when individuals with cystinosis develop neurologic signs and symptoms, and magnetic resonance imaging scans should be performed on children with cystinosis who present with new-onset headache, ataxia, incontinence, or other unexplained neurologic symptoms.
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Registered trials
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