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WHITE MATTER DISORDERS IN A SERIE OF 150 PATIENTS WITH METABOLIC DISEASE
Building: Bourbon Cataratas Convention Centre, Foz do Iguaçu
Room: Cataratas I
Date: 2014-05-08 03:15 PM – 03:30 PM
Last modified: 2014-02-09
Abstract
Introduction. The secondary disturbances of the white matter (WM) is caused by various diseases, like metabolic disorders, causing myelin detention or destruction.
Objectives. Identifying WM disturbances and describe the neuro-radiologic findings in patients with metabolic diseases diagnosed in our center.
Method. Descriptive study. Review patient´s clinical records and neuroimaging.
Results. 150 patients studied. 88 with WM disturbances. 4/6 PKU showed periventricular hypomyelination. 3/3 maple syrup urine disease with posterior fossa swelling. 15/150 Organic Acidemia; 11/11 Glutaric Acidemia type I with extensive involvement of WM, basal ganglia and fronto-temporal atrophy. 49/150 Lysosomal disorders; 11/49 lipofuscinosis with periventricular WM hyperintensity and cerebelar atrophy; 22/49 mucopolysaccharidosis, 8/11 type II showed periventricular WM and perivascular spaces involvement and diffuse atrophy. 8/49 Gangliosidosis; 3/3 type I showed periventricular WM involvement and 5/5 type II with symmetrical WM involvement and caudate, lenticular and thalamus hypointensity; 4/49 metacromatic leukodystrophy showed “tigroid aspect”. Also presented corpus callosum, internal capsule and cerebelar involvement; 4/49 Krabbe disease, 4/4 symmetrical and bilateral WM, corpus callosum, posterior limb of internal capsule, piramidal tracts and cerebelar involvement. 32/150 Mitocondrial Diseases; 9/9 MELAS with stroke-like WM involvement, 1/8 Leigh showed diffuse WM involvement. 21/150 Peroxisomal Disorders; 4 neonatal Adrenoleukodystrophy and Zelweger showed hypomyelination; 16/17 X-linked Adrenoleukodystrophy with parieto-occipital WM and splenium involvement, 1/17 showed anterior pattern. 2 Molybdenum Cofactor Deficiency showed multicystic encephalomalacia.
Conclusion. In our patients, more than half showed WM involvement, with characteristics and counselors pattern for each disease, which reflects the susceptibility of WM metabolic changes, independent of the affected pathway.
Objectives. Identifying WM disturbances and describe the neuro-radiologic findings in patients with metabolic diseases diagnosed in our center.
Method. Descriptive study. Review patient´s clinical records and neuroimaging.
Results. 150 patients studied. 88 with WM disturbances. 4/6 PKU showed periventricular hypomyelination. 3/3 maple syrup urine disease with posterior fossa swelling. 15/150 Organic Acidemia; 11/11 Glutaric Acidemia type I with extensive involvement of WM, basal ganglia and fronto-temporal atrophy. 49/150 Lysosomal disorders; 11/49 lipofuscinosis with periventricular WM hyperintensity and cerebelar atrophy; 22/49 mucopolysaccharidosis, 8/11 type II showed periventricular WM and perivascular spaces involvement and diffuse atrophy. 8/49 Gangliosidosis; 3/3 type I showed periventricular WM involvement and 5/5 type II with symmetrical WM involvement and caudate, lenticular and thalamus hypointensity; 4/49 metacromatic leukodystrophy showed “tigroid aspect”. Also presented corpus callosum, internal capsule and cerebelar involvement; 4/49 Krabbe disease, 4/4 symmetrical and bilateral WM, corpus callosum, posterior limb of internal capsule, piramidal tracts and cerebelar involvement. 32/150 Mitocondrial Diseases; 9/9 MELAS with stroke-like WM involvement, 1/8 Leigh showed diffuse WM involvement. 21/150 Peroxisomal Disorders; 4 neonatal Adrenoleukodystrophy and Zelweger showed hypomyelination; 16/17 X-linked Adrenoleukodystrophy with parieto-occipital WM and splenium involvement, 1/17 showed anterior pattern. 2 Molybdenum Cofactor Deficiency showed multicystic encephalomalacia.
Conclusion. In our patients, more than half showed WM involvement, with characteristics and counselors pattern for each disease, which reflects the susceptibility of WM metabolic changes, independent of the affected pathway.
Keywords
white matter; metabolic disorder; basal ganglia; brain magnetic resonance
References
Marsden D, Levy H. Newborn Screening of Lysosomal Storage Disorders. Clinical Chemistry 56:7
1071–1079 (2010)
Barkovich A.J. A magnetic resonance approach to metabolic disorders in childhood. REV NEUROL 2006; 43 (Supl 1): S5-16
Talkad S. Raghuveer, Uttam Garg, William d. Graf. Inborn Errors of Metabolism in Infancy and Early Childhood: An Update. American Family Physician. Volume 73, Number 11
1071–1079 (2010)
Barkovich A.J. A magnetic resonance approach to metabolic disorders in childhood. REV NEUROL 2006; 43 (Supl 1): S5-16
Talkad S. Raghuveer, Uttam Garg, William d. Graf. Inborn Errors of Metabolism in Infancy and Early Childhood: An Update. American Family Physician. Volume 73, Number 11
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