Central nervous system complications in adult cystinosis patients.

Aude Servais, Ana Saitovitch, Aurélie Hummel, Jennifer Boisgontier, Anne Scemla, Rebecca Sberro‐Soussan, Renaud Snanoudj, Hervé Lemaitre, Christophe Legendre, Clément Pontoizeau, Corinne Antignac, Dany Anglicheau, Benoît Funalot, Nathalie Boddaert
Jrnl of Inher Metab Disea. 2019-09-18; 43(2): 348-356
DOI: 10.1002/jimd.12164

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Little is known about the long-term progression of adult nephropathic cystinosis
patients. Our objective was to study central nervous system complications in
cystinosis patients in the era of early cysteamine treatment, using advanced
neuroimaging techniques. Neurological examination and multimodal brain 3 Tesla
MRI were performed in 21 adult cystinosis patients, including 18 infantile
cystinosis patients, 20 controls matched for age and renal function, and 12
healthy controls. Differences in gray matter volume and rest cerebral blood flow
(CBF) using arterial spin labeling sequence were investigated using whole-brain
voxel-based approach. Median age was 33.8 years (18.7-65.8). Seven patients
(38.9%) presented with at least one central nervous system clinical abnormality:
two (11.1%) with seizures, three (16.7%) with memory defects, five (27.8%) with
cognitive defect, and one (5.5%) with stroke-like episode. These patients had a
worse compliance to treatment (compliance score 2 vs 1, P = .03) and received a
lower median cysteamine dose (0.9 g/day vs 2.1 g/day, P = .02). Among patients
with infantile cystinosis, 13 (72.2%) showed cortical atrophy, which was absent
in controls, but it was not correlated with symptoms. Cystinosis patients showed
a significant gray matter decrease in the middle frontal gyrus compared with
healthy controls and a significant negative correlation between the cystine blood
level and rest CBF was observed in the right superior frontal gyrus, a region
associated with executive function. Compliance to cysteamine treatment is a major
concern in these adult patients and could have an impact on the development of
neurological and cognitive complications.

© 2019 SSIEM.

DOI: 10.1002/jimd.12164
PMID: 31444911

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