CATCH22の神経学的検討 : 頭部MRI,心理検査を中心に

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CATCH22 is characterized by cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia resulting from 22qll deletions. We conducted magnetic resonance imaging (MRI) of the brain and intelligence tests in subjects with cardiac anomalies and other clinical features of CATCH22 to clarify the neurological findings of this disorder. The 34 subjects had been diagnosed as having CATCH22 based on deletion of 22qll as confirmed by FISH analysis. Twenty-five of these patients underwent brain MRI all 34 had intelligence tests. The ages ranged from 3y6m to 32y for those undergoing MRI and from ly to 31y9m for the whole group. As to brain MRI, we measured the corpus callosum and classified the findings according to whether the cavum septi pellucidi (CSP) and cavum vergae (CV) were present. Brain MRI revealed anomalies in 80%, including CSP&CV (44%), focal or sporadic T2 high intensity areas in the white matter (44%), cerebral atrophy (24%), asymmetry of the lateral ventricles (12%), enlargement of the cisterna magna (8%), a small T2 high intensity area at the putamen in cases with hypoparathyroidism (8%) and sinusitis (36%). CSP&CV were more common in CATCH22 than in normal cases and this tendency was particularly marked in those with tetralogy of Fallot. As to the appearance of white matter lesions, no apparent tendency was noted among those with cardiac anomalies or who had undergone cardiac surgery. With regards to the corpus callosum, length in all cases and thickness in the group without CSP&CV correlated with age, as was the case in the normal control group. The corpus callosum in those without CSP&CV was thinner than in the control group, while the length in the CATCH22 group was similar to that of controls. Intelligence test results; intelligence quotients (IQ) ranged from 40～106 with an average of 68.4. Borderline mentality and mental delay were recognized in 79% of cases with an IQ below 84. Total IQ decreased with aging. On the Wechsler test, there were no differences between verbal and performance IQ. Among items on the sub-tests, the "Waze" item score was higher than those of other items. The pathology of CATCH22 can be explained by abnormal migration and development of neural crest cells, but its correlation with brain anomalies remains to be clarified. It is necessary to examine the relation between the findings of this study and the symptoms of CATCH22.
東京女子医科大学の論文
1996-07-25

CATCH22の神経学的検討 : 頭部MRI,心理検査を中心に

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