Chiari I Malformation in Nephropathic Cystinosis

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Kavya I Rao1, John Hesselink2, Doris A Trauner3

  • 1Department of Neurosciences, University of California, San Diego School of Medicine, La Jolla, CA.

The Journal of Pediatrics
|August 13, 2015
PubMed

Insights

Children with cystinosis have a significantly higher incidence of Chiari I malformations, a serious brain condition. Early MRI screening is recommended for these patients presenting with neurological symptoms.

Area of Science:

  • Pediatric Neurology
  • Medical Genetics

Background:

  • Cystinosis is a rare genetic disorder leading to lysosomal accumulation of cystine.
  • Neurological complications can arise in cystinosis patients, but their specific associations are not fully understood.

Purpose of the Study:

  • To investigate the prevalence of Chiari I malformations in children diagnosed with nephropathic cystinosis.
  • To compare this prevalence against the general pediatric population.

Main Methods:

  • Magnetic resonance imaging (MRI) was utilized to assess 53 children with cystinosis and 120 age-matched controls (ages 3-18).
  • Standardized imaging protocols were applied to evaluate for Chiari I malformation and tonsillar ectopia.

Main Results:

  • A significantly higher incidence of Chiari I malformation was observed in patients with cystinosis (18.9%) compared to controls (1.6%).
  • At least two patients exhibited symptoms potentially linked to the malformation, with one requiring surgical intervention.
  • Two patients were diagnosed with an associated cervical syrinx, a fluid-filled cavity within the spinal cord.

Conclusions:

  • Children with cystinosis exhibit a 12-fold increased prevalence of Chiari I malformations.
  • Chiari I malformation should be considered in the differential diagnosis for cystinosis patients with new neurological signs.
  • Prompt MRI is advised for cystinosis patients presenting with symptoms like headache, ataxia, or incontinence.
Abstract

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