Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis

Introduction Infantile neuroaxonal dystrophy (INAD), an autosomal recessive neurodegenerative disorder due to PLA2G6 mutation, is classified both as a PLA2G6-associated neurodegeneration (PLAN) disorder and as one of the neurodegeneration with brain iron accumulation (NBIA) disorders. Age of onset a...

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Bibliographic Details
Published in:Neuroradiology 2016-10, Vol.58 (10), p.1035-1042
Main Authors: Al-Maawali, A., Yoon, G., Feigenbaum, A. S., Halliday, W. C., Clarke, J. T. R., Branson, H. M, Banwell, B. L., Chitayat, D., Blaser, Susan I.
Format: Article
Language:English
Subjects:
Biometrics
Biometry - methods
Child, Preschool
Clava
Diagnosis, Differential
Female
Genetic Predisposition to Disease - genetics
Group VI Phospholipases A2 - genetics
Humans
Hypertrophy
Imaging
Infant
Iron
Magnetic Resonance Imaging - methods
Male
Medical imaging
Medicine
Medicine & Public Health
Mutation
Neuroaxonal Dystrophies - diagnostic imaging
Neuroaxonal Dystrophies - genetics
Neuroaxonal Dystrophies - pathology
Neurodegeneration
Neurology
Neuroradiology
Neurosciences
Neurosurgery
Paediatric Neuroradiology
Radiology
Reproducibility of Results
Sensitivity and Specificity
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Summary:Introduction Infantile neuroaxonal dystrophy (INAD), an autosomal recessive neurodegenerative disorder due to PLA2G6 mutation, is classified both as a PLA2G6-associated neurodegeneration (PLAN) disorder and as one of the neurodegeneration with brain iron accumulation (NBIA) disorders. Age of onset and clinical presentation in INAD is variable. Typically described imaging features of cerebellar atrophy, cerebellar cortex bright FLAIR signal, and globus pallidus iron deposition are variable or late findings. We characterize clinical and neuroimaging phenotypes in nine children with confirmed PLA2G6 mutations and show a useful imaging feature, clava hypertrophy, which may aid in earlier identification of patients. Measurements of the clava confirm actual enlargement, rather than apparent enlargement due to volume loss of the other brain stem structures. Methods A retrospective clinical and MRI review was performed. Brain stem measurements were performed and compared with age-matched controls. Results We identified nine patients, all with novel PLA2G6 gene mutations. MRI, available in eight, showed clava hypertrophy, regardless of age or the absence of other more typically described neuroimaging findings. Brain autopsy in our cohort confirmed prominent spheroid bodies in the clava nuclei. Conclusion Clava hypertrophy is an important early imaging feature which may aid in indentification of children who would benefit from specific testing for PLA2G6 mutations.
ISSN:0028-3940
1432-1920
DOI:10.1007/s00234-016-1726-6