Neuroimaging In Cockayne Syndrome

Abstract

SUMMARY: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, 1 H-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., ABBREVIATIONS: Cho ϭ choline; Cr ϭ creatine; CS ϭ Cockayne syndrome; COFS ϭ cerebro-oculofacio-skeletal syndrome; FLAIR ϭ fluid-attenuated inversion recovery; NAA ϭ N-acetylaspartate

Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease

“…Although we can only speculate that alterations in calcium homeostasis triggered by VDCC dysregulation may contribute to the severe cerebral calcification observed in the brain of CS patients (24), it is very likely that deficits in calcium dynamics have physiological repercussions at the level of the neurons and glia. For example, the down-regulated CACNA1E gene encodes the core subunit of type-R voltage-gated calcium channels (25), which are expressed in the cerebellum, brainstem, and telencephalon by neurons and glial cells.…”

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

“…This finding is not unexpected, as inadequate myelination is often observed in early-onset neuronal degenerative disorders. [29][30][31] The recognition of key neuroradiologic features enables an early diagnosis of AGS and consequently prompt genetic counseling. In addition, the progressive nature of AGS is specific of the initial period of disease course; therefore, an early diagnosis can be crucial in case potential therapies will become available to stop or prevent the further progression of the disease in its initial stages.…”

A neuroimaging pattern‐recognition approach in pediatric intracranial calcifications

“…Although, because of population bias, some diseases with intracranial calcifications such as Cockayne syndrome 7 and neurofibromatosis type 2 8 are not included in this study they can easily be added. The article by Livingston et al will be helpful for pediatric neurologists and pediatric neuroradiologists in terms of diagnosis, classification, and identification of well-defined and unclassified disorders with intracranial calcifications.…”