Magnetic resonance imaging and clinical findings examined in adulthood-studies on three adults with Rett syndrome.
OBJECTIVE
To clarify magnetic resonance imaging (MRI) findings in three adult patients with Rett syndrome who had been diagnosed with mental retardation and autism.


METHODS
Clinical and MRI findings in three adult cases with Rett syndrome were studied. Ages (in years) in three adult cases with Rett Syndrome were 46 in Case 1, 35 in Case 2 and 20 in Case 3. They were able to walk and their convulsions were well controlled.


RESULTS
MRI findings in all patients showed mild cerebral atrophy, especially in the frontal and temporal lobes and two of the cases also had mild cerebellar atrophy. One case also showed a narrowing of the brainstem and thinning of the corpus callosum.


CONCLUSIONS
These results indicate that abnormalities in MRI imaging, in cases where there is narrowing of the brainstem and thinning of the corpus callosum, may be due to congenital hypoplasia. It was also seen that cerebellar atrophy became more distinct in older cases.
Gotoh
H
H
Department of Pediatrics, Hikarino-ie Institute, Moro Hospital, 38 Morohongou, Iruma-gun, 350-0495, Saitama, Japan.
Suzuki
I
I
Maruki
K
K
Mitomo
M
M
Hirasawa
K
K
Sasaki
N
N
D000328:Adult; D001284:Atrophy / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D002552:Cerebral Ventricles / Q000473:pathology; D018450:Disease Progression; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D015518:Rett Syndrome / Q000473:pathology* / Q000503:physiopathology