Severe Encephalopathy

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Girls Dumbbell Exercises
Fig. 28.3.
Mri Encephalopathy

Fig. 28.4. A 1-year-old girl with complex I deficiency related to a mutant NDUFV1 subunit of mitochondrial complex I (Schuelke et al. 1999). Clinically she has a severe encephalopathy and macrocephaly. The MRI reveals a diffuse leuko-encephalopathy with macrocystic degeneration. Courtesy of Dr. J.A.M. Smeitink, Department of Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Hospital Nijmegen, Nijmegen,The Netherlands

Fig. 28.4. A 1-year-old girl with complex I deficiency related to a mutant NDUFV1 subunit of mitochondrial complex I (Schuelke et al. 1999). Clinically she has a severe encephalopathy and macrocephaly. The MRI reveals a diffuse leuko-encephalopathy with macrocystic degeneration. Courtesy of Dr. J.A.M. Smeitink, Department of Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Hospital Nijmegen, Nijmegen,The Netherlands

Mri Macrocephaly Epilepsy

Fig. 28.5. A 19-month-old boy with isolated complex I deficiency. There are extensive, partially focal, but largely confluent cerebral white matter abnormalities. The internal capsule is spared, while the periventricular rim is partially spared.The corpus callosum is severely involved.The coronal FLAIR image (third row, left) shows that the abnormal white matter is partially cystic. The sagittal (first row, left) and transverse (second row, right) T2-weighted images and the coronal FLAIR image (third row, left) demonstrate that the cerebellar cortex is dif

Fig. 28.5. A 19-month-old boy with isolated complex I deficiency. There are extensive, partially focal, but largely confluent cerebral white matter abnormalities. The internal capsule is spared, while the periventricular rim is partially spared.The corpus callosum is severely involved.The coronal FLAIR image (third row, left) shows that the abnormal white matter is partially cystic. The sagittal (first row, left) and transverse (second row, right) T2-weighted images and the coronal FLAIR image (third row, left) demonstrate that the cerebellar cortex is dif fusely abnormal. The Trweighted images without (third row, middle) and with contrast (third row, right) demonstrate that there are foci of contrast enhancement within the abnormal white matter, most of all the posterior part of the corpus callosum. From Wolf et al. (2003), with permission; also courtesy of Dr. W. Evert, Children's Hospital Offenbach, and Dr. N. Rilinger, Central Institute for Diagnostic and Interventional Radiology, Offenbach, Germany

Transverse Limb AbnormalitiesTransverse Limb Abnormality

Fig. 28.6. (continued). A 2-year-old boy with complex II defi-ciency.The are extensive cerebral white matter abnormalities with sparing of the U fibers. The corpus callosum, posterior limb of the internal capsule, and corticospinal tracts in the brain stem are also involved.The sagittal T1-weighted image and the transverse proton density images (firstrow) reveal that

Fig. 28.6. (continued). A 2-year-old boy with complex II defi-ciency.The are extensive cerebral white matter abnormalities with sparing of the U fibers. The corpus callosum, posterior limb of the internal capsule, and corticospinal tracts in the brain stem are also involved.The sagittal T1-weighted image and the transverse proton density images (firstrow) reveal that the corpus callosum and cerebral white matter are partially cystic. There is a slit in the corpus callosum over its entire length.The T1-weighted images without (fourth row) and with contrast (fifth row) demonstrate that there are foci of contrast uptake in the abnormal white matter. From Brockmann et al. (2002), with permission

Born Without The Corpus Callosum
Fig. 28.7. An 11-month-old girl with complex II deficiency. There are extensive signal abnormalities in the periventricular and deep cerebral white matter and corpus callosum. There are signal abnormalities in the cerebellar white matter,middle

cerebellar peduncles,and lateral parts of the pons.Myelination is delayed for the age of the child. From Brockmann et al. (2002), with permission

Fig.28.8. A 1-year-old girl with complex II deficiency. The cerebral white matter is diffusely abnormal. The corpus callosum, posterior limb of the corpus callosum,corticospinal tracts in the brain stem, middle cerebellar peduncles,and cerebellar white matter are also involved.There are small, well-delineat ed cysts within the abnormal cerebral white matter, best seen on the sagittal Trweighted images (first row) and axial FLAIR images (fourth row). Courtesy of Dr. A. Bizzi, Department of Neuroradiology, and Dr. G. Uziel, Department of Child Neurology, Istituto Nazionale Neurologico C. Besta, Milan, Italy

Uzziel GrayUzziel Gray

Fig. 28.9. A 3-year-old boy with cytochrome-: oxidase defi- and multiple nuclei in the medulla. From Rossi et al. (2003), ciency related to SURF1 mutations.There are signal abnormal- with permission ities in the posterior part of the putamen,the subthalamic nucleus, substantia nigra, dentate nucleus, periaqueductal gray,

Fig. 28.9. A 3-year-old boy with cytochrome-: oxidase defi- and multiple nuclei in the medulla. From Rossi et al. (2003), ciency related to SURF1 mutations.There are signal abnormal- with permission ities in the posterior part of the putamen,the subthalamic nucleus, substantia nigra, dentate nucleus, periaqueductal gray,

Subthalamic Nucleus Axial

Fig.28.10. A 2.5-year-old girl with cytochrome-coxidase defi- sule, corpus callosum, and the cerebral hemispheric white ciency related to SURF1 mutations.There are signal abnormal- matter, posterior more than anterior.The abnormal white mat-ities in the subthalamic nucleus, substantia nigra, periaque- ter contains small cysts. From Rahman et al. (2001), with perductal gray,dentate nucleus,posterior limb of the internal cap- mission

Fig.28.10. A 2.5-year-old girl with cytochrome-coxidase defi- sule, corpus callosum, and the cerebral hemispheric white ciency related to SURF1 mutations.There are signal abnormal- matter, posterior more than anterior.The abnormal white mat-ities in the subthalamic nucleus, substantia nigra, periaque- ter contains small cysts. From Rahman et al. (2001), with perductal gray,dentate nucleus,posterior limb of the internal cap- mission

Cytochrome Oxidase Deficiency

Fig. 28.11. A 1.5-year-old boy with cytochrome-c oxidase deficiency. There are signal abnormalities in the subthalamic nucleus, dentate nucleus, substantia nigra, and nuclei in the medulla. In addition, there are white matter abnormalities involving the periventricular parieto-occipital region and pos

Fig. 28.11. A 1.5-year-old boy with cytochrome-c oxidase deficiency. There are signal abnormalities in the subthalamic nucleus, dentate nucleus, substantia nigra, and nuclei in the medulla. In addition, there are white matter abnormalities involving the periventricular parieto-occipital region and pos terior limb of the internal capsule.Courtesy of Dr.M.Savoiardo, Department of Neuroradiology, and Dr. G. Uziel, Department of Child Neurology, Istituto Nazionale Neurologico C. Besta, Milan, Italy

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