الفهرس 
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Abstract
Neuroradiologists should be aware that ataxia in children is a common manifestation of many disorders. Some can be suggested or diagnosed by imaging; others can be prevented by genetic counseling or treated if detected in early stages. Diagnosing these disorders requires a careful analysis of posterior fossa structures and knowledge of the disturbances of normal anatomy caused by these disorders.
This study was conducted to suggest MRI based pattern recognition approach in children with inherited ataxia in correlation with clinical, laboratory and genetic data (whenever available).
The study was conducted on 40 children; 22 males and 18 females (ranging in age from 1.5 to 14 years with mean age 4.3 years) presenting by clinical picture suggestive of inherited ataxia referred to the Department of Radiodiagnosis for further MRI imaging evaluation.
MRI examinations were performed on a 3T GE Discovery MR 750 system (GE Discovery, Madison, WI) machine with conventional sequences including 3D T1, axial, sagittal and coronal T2, axial FLAIR, DWI and SWI. MRS with intermediate TE was done for all cases with voxels placed on supratentorial deep grey matter, white matter and CSF.
The included children with suspected inherited cerebellar ataxia were divided into three main groups based on the predominant MRI pattern; group I: children with ataxia and normal appearing cerebellum, group II: children with ataxia and isolated cerebellar atrophy, group III: children with ataxia and cerebellar atrophy plus other MRI features which was further subdivided into 5 sub-groups: group III A: Cerebellar atrophy plus cerebellar hyperintense signal, group III B: Cerebellar atrophy plus brain stem signal, group III C: Cerebellar atrophy plus deep grey matter nuclei signal, group III D: Cerebellar atrophy plus supratentorial white matter signal, and group III E: Cerebellar atrophy plus combined deep grey matter nuclei and white matter signal.
group I included two patients (5%) with Friedreich Ataxia presenting with ataxia and normal appearing MRI.
group II included 15 patients (37.5%) ranging in age from 2.8 years up to 14 years presenting with ataxia, yet isolated cerebellar atrophy. Four patients were diagnosed as mitochondrial disease (Co-enzyme Q 10 deficiency), three as ataxia telangiectasia, three as ataxia with occulomotor apraxia, three with spinocerebellar ataxia and the last two were of unknown etiology.
group IIIA included 5 patients (12.5%) ranging in age from 2 to 4 years presenting with ataxia and developmental delay. On imaging, patients showed cerebellar atrophy with cerebellar hyperintense signal. One patient was diagnosed as Marinesco Sjogren syndrome, one as infantile neuroaxonal dystrophy, one as congenital disorder of glycosylation and the last two cases were of unknown etiology
group IIIB included 2 patients (5%) averaging 4 and 9 years respectively presenting with ataxia and other neurological manifestations. On imaging both patients had cerebellar atrophy plus brain stem or cerebellar peduncular signal. One patient was diagnosed as Autosomal recessive spastic ataxia of charlevoix Saguenay (ARSACS), while the other one was mitochondrial disease.
group IIIC included 5 patients (12.5%) ranging in age from 2 to 4.5 years. On imaging, all patients showed cerebellar atrophy with deep grey matter nuclei signal. Three patients were diagnosed as Leigh disease, while two were diagnosed as glutaric aciduria.
group IIID included 3 patients (7.5%) ranging in age from 1.5 to 3 years presenting with ataxia and global developmental delay, hypotonia and extra pyramidal signs. On imaging these patients had cerebellar atrophy plus supratentorial white matter signal. One patient was diagnosed as Molybdenum cofactor deficiency, one as Salla disease and one as mitochondrial disease.
group IIIE included 8 patients (20%) ranging in age from 3 to 6 years presenting with ataxia. On imaging, all patients showed cerebellar atrophy plus combined deep grey matter nuclei and white matter signal. Four patients were diagnosed as neuronal ceroid lipofusinosis, two as gangliosidosis (GM2) and two paatients as mitochondrial disease.