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2015 ; 167
(5
): 1126-9
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Chiari I Malformation in Nephropathic Cystinosis
#MMPMID26265281
Rao KI
; Hesselink J
; Trauner DA
J Pediatr
2015[Nov]; 167
(5
): 1126-9
PMID26265281
show ga
OBJECTIVE: To determine the relative incidence of Chiari I malformations in
children with cystinosis compared with those in the general population. STUDY
DESIGN: Magnetic resonance imaging scans were performed on 53 patients with
nephropathic cystinosis and 120 controls, age range 3-18 years. RESULTS: Ten 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. CONCLUSIONS: Children 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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