الفهرس 
Brain Magnetic Resonance Imaging Spectroscopy findings in infants and Children with Nephropathic Cystinosis
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Abstract
Cystinosis is a rare autosomal recessive lysosomal
storage disorder caused by mutations in the CTNS gene. Main
dysfunction is a defective clearance of cystine from lysosomes that
leads to accumulation of cystine crystals in every tissue of the body.
Complications in multiple organs have been seen in patients with longterm nephropathic cystinosis. Hypotonia, tremor, speech delay, gross and
fine motor impairment, idiopathic intracranial hypertension,
neurocognitive dysfunction, behavioral issues, and encephalopathy are
some of central nervous system complications.
Objectives: To evaluate the conventional MR and MR spectroscopy
findings in pediatric patients with nephropathic cystinosis, together with
assessment of their neurocognitive function compared to a cohort of
chronic kidney disease (CKD) patients and a group of healthy sex and age
matched children as a control group.
Methodology: Twelve patients with confirmed diagnosis of nephropathic
cystinosis, they ranged in age from 3 to 20 years, were
subjected to conventional brain magnetic resonance imaging
(MRI), brain magnetic resonance spectroscopy imaging (MRS). And
the results were compared to a cohort of ten age and sex matched patients
with CKD, they ranged in age from 7 to 12 years, and also compared to
a group of ten healthy age and sex matched children, they ranged in age
from 6 to 16 years. Additionally, Stanford Binet test for the Intelli
gence Quotient (IQ) and cognitive functions assessment were done.
Results: MRI of the brain revealed six cystinosis patients had brain
atrophy, 3 of them had cortical central atrophy in fronto-parietal area, and
other 3 had central brain atrophy, also seven CKD patients had brain
atrophy, two of them had bilateral cortical old infarcts. Also our study
did not demonstrate cystine peak or any abnormal spectral peak at MRS
findings in cystinosis, no statistical significant difference of brain
metabolites among cystinosis and CKD patients, no relation between
brain atrophy and cognitive dysfunction.
Conclusion: Nephropathic cystinosis patients require a broader
spectrum of attention and care, including not just metabolic
multisystem dysfunction but also neuropsychological impairment in
the context of multidisciplinary management.