Neuroimaging In Cockayne Syndrome

• Published in: American journal of neuroradiology : AJNR Vol. 31; no. 9; pp. 1623 - 1630
• Main Authors: KOOB, M, LAUGEL, V, DURAND, M, FOTHERGILL, H, DALLOZ, C, SAUVANAUD, F, DOLLFUS, H, NAMER, I. J, DIETEMANN, J.-L
• Format: Journal Article
• Language: English
• Published: Oak Brook, IL American Society of Neuroradiology 01-10-2010
• Subjects: Adolescent; Biological and medical sciences; Biomarkers - analysis; Brain - diagnostic imaging; Brain - metabolism; Brain - pathology; Child; Child, Preschool; Cockayne Syndrome - diagnosis; Female; Fundamental and applied biological sciences. Psychology; Human; Humans; Infant; Investigative techniques, diagnostic techniques (general aspects); Learning; Learning. Memory; Magnetic Resonance Imaging - methods; Magnetic Resonance Spectroscopy - methods; Male; Medical sciences; Middle Aged; Nervous system; Pediatrics; Protons; Psychology. Psychoanalysis. Psychiatry; Psychology. Psychophysiology; Radiodiagnosis. Nmr imagery. Nmr spectrometry; Radionuclide Imaging; Tomography, X-Ray Computed - methods; Young Adult; Cockayne syndrome; Eye disease; Skin disease; Nervous system diseases; Radiodiagnosis; Diseases of the osteoarticular system; ENT disease; Complex syndrome; Genetic disease
• ISSN: 0195-6108; 1936-959X
• DOI: 10.3174/ajnr.A2135

CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and photosensitivity. We describe the neuroimaging features (MR imaging, ¹H-MR spectroscopy, and CT) in the various clinical subtypes of CS from a cohort of genetically and biochemically proved cases. Hypomyelination, calcifications, and brain atrophy were the main imaging features. Calcifications were typically found in the putamen and less often in the cortex and dentate nuclei. Severe progressive atrophy was seen in the supratentorial white matter, the cerebellum, the corpus callosum, and the brain stem. Patients with early-onset disease displayed more severe hypomyelination and prominent calcifications in the sulcal depth of the cerebral cortex, but atrophy was less severe in late-onset patients. On proton MR spectroscopy, lactate was detected and Cho and NAA values were decreased. These combined neuroradiologic findings can help in the differential diagnosis of CS, distinguishing it from other leukoencephalopathies and/or cerebral calcifications in childhood.