Article Figures & Data
Figures
- Fig 1.
Sagittal T1-weighted midline (A) and coronal (B) T1-weighted MR images through the posterior fossa show small cerebellar hemispheres and pontine hypoplasia with prominent cerebellar folia.
- Fig 2.
A, Sagittal T1-weighted MR imaging demonstrates marked cerebellar volume loss with good preservation of the pons. B, Coronal T2-weighted sequence confirms cerebellar but not cerebral atrophy.
- Fig 3.
Sagittal midline T1-weighted (A) and coronal fluid-attenuated (B) inversion recovery (C) images demonstrate evidence of progressive cerebellar atrophy when compared with interval sagittal T1-weighted midline image. Note evidence of pontine involvement with T1-weighted hypointensity returned from a pons diminished in size.
Tables
Clinical, biochemical, molecular, and neuroradiologic findings of the patients
Patient/ Gender Age at Diagnosis (months) Presentation RC/Molecular Defect Neurological Symptoms MR Findings 1/F 295 NSME CI–CIV A, C, PR Cerebellar atrophy 2/F 67 NSME CI A, C, H, HL, PR, SZ Cerebellar atrophy 3/F 85 NSME CI A, C, H, SZ Cerebellar atrophy 4/F 20 NSME CI–CIV A, C, D, H, SZ Cerebellar atrophy 5/F 7 NSME CI + III, II + III A, C, H, HL, SZ Pontocerebellar hypoplasia 6/F 85 NSME CI + III, II + III (CoQ10 deficiency) C, H, PR, SZ Mild cerebellar atrophy 7/F 13 NSME CI–CIV A, C, H, HL Cerebellar hypoplasia 8/M 48 NSME CI A, C, H Cerebellar atrophy 9/M 31 NSME CI A, C, H, SZ Cerebellar atrophy 10/M 45 NSME CI A, C, H, HL, PR Cerebellar atrophy 11/F 162 NSME CII A, C, H Cerebellar atrophy 12/M 35 NSME CIV A, C, H, HL Cerebellar atrophy 13/M 31 NSME CII A, C, D, H, SZ Cerebellar atrophy 14/M 43 NSME CII A, C, H, HL, SZ Cerebellar atrophy 15/M 16 LS CIV SURF1 (Q195X/A56G) A, C, H Cerebellar atrophy/ bilateral basal ganglia lesions 16/M 216 MNGIE TP (homozygous IVS1-1G→C) A, H, O, P, PR Cerebellar atrophy/ leukoencephalopathy 17/F 104 MELAS 3243A→G A, C, H, HL, ST, SZ Cerebellar atrophy/stroke like lesions 18/F 206 MELAS 3243A→G A, C, H, HL, ST Cerebellar atrophy/stroke-like lesions Note.—CI through CIV indicates defect of the RC enzyme complex I to IV; CI–CIV, combined RC enzyme defects; CoQ10, coenzyme Q10; NSME, nonspecific mitochondrial encephalomyopathy; LS, Leigh syndrome; MNGIE, mitochondrial neurogastrointestinal encephalomyopathy; MELAS, mitrochondrial encephalomyopathy with lactic acidosis and strokelike episodes; A, ataxia; C, cognitive impairment; D, dystonia; H, hypotonia; HL, hearing loss; O, external ophthalmoparesis; P, paresthesia; PR, pigmentary retinopathy; ST, strokelike episodes; SZ, seizures.
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