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Rett syndrome is a neurodegenerative disease of young girls that begins in early childhood with autismlike behavior and loss of language skills, and progresses with marked deterioration of the motor system in the second decade of life. The purpose of this study was to determine if neuroanatomic changes detected with MR imaging could help to explain the clinical presentation and progression of signs and symptoms in these patients. Accordingly, computer-assisted planimetry was used to measure various dimensions of cerebral, cerebellar, and brainstem structures on sagittal and transverse MR images of 13 patients with Rett syndrome and 10 healthy volunteers. Dimensions of the cerebrum, basal ganglia, cerebellum, and brainstem were measured on transverse images. Areas of cerebellar vermian lobules, the fourth ventricle, the pituitary gland, and the corpus callosum were measured on sagittal images. Fourteen dimensions and areas were measured in each patient and each control subject; according to two-tailed Student's t tests, all but two values were significantly smaller in the patients with Rett syndrome than in control subjects. Graphing the measurements against age by using simple linear regression revealed progressive cerebellar atrophy without evidence of atrophy of the brainstem or cerebrum. Our results indicate that patients with Rett syndrome have global hypoplasia of the brain and progressive cerebellar atrophy increasing with age. Cerebellar atrophy with age may contribute to the deterioration of the motor system seen in older patients with Rett syndrome.

Thin (5-mm) coronal high-field (1.5-T) MR images of four human brain specimens and 14 normal volunteers were correlated with myelin-stained microtomic sections of the specimen cerebella. The primary white-matter tracts innervating several hemispheric (posterior quadrangular, superior, and inferior semilunar, gracile, biventer, tonsil) and vermian (declive, folium, tuber) lobules are oriented perpendicularly to the coronal plane of section and are shown well on proton-density-weighted (long TR/short TE) and T2-weighted (long TR/long TE) spin-echo images, which provide excellent contrast between gray and white matter. Several of the surface sulci and fissures of the cerebellar hemispheres (including the superior posterior, horizontal, secondary, and posterolateral fissures) also course perpendicular to the coronal plane and are depicted well on T1-weighted (short TR/short TE) and T2-weighted images, which maximize contrast between CSF and parenchyma. The opportunity for side-to-side comparison of the hemispheres is a distinct advantage of the coronal view. Nevertheless, more obliquely oriented surfaces (preculminate, primary, inferior posterior, inferior anterior, and intrabiventral fissures) and deep hemispheric structures (primary white-matter tracts to central, anterior quadrangular, and floccular lobules) may be obscured by volume-averaging in the coronal plane; moreover, much of the finer anatomy of the vermis is depicted poorly. The constant surface and deep anatomy of the cerebellum revealed on coronal images in normal volunteers encourages detailed mapping. MR imaging in the coronal plane should be especially useful in identifying, localizing, and quantifying normal and abnormal morphologic differences between the cerebellar hemispheres.

Thin (5-mm) coronal high-field (1.5-T) MR images of four human brain specimens and 14 normal volunteers were correlated with myelin-stained microtomic sections of the specimen cerebella. The primary white-matter tracts innervating several hemispheric (posterior quadrangular, superior, and inferior semilunar, gracile, biventer, tonsil) and vermian (declive, folium, tuber) lobules are oriented perpendicularly to the coronal plane of section and are shown well on proton-density-weighted (long TR/short TE) and T2-weighted (long TR/long TE) spin-echo images, which provide excellent contrast between gray and white matter. Several of the surface sulci and fissures of the cerebellar hemispheres (including the superior posterior, horizontal, secondary, and posterolateral fissures) also course perpendicular to the coronal plane and are depicted well on T1-weighted (short TR/short TE) and T2-weighted images, which maximize contrast between CSF and parenchyma. The opportunity for side-to-side comparison of the hemispheres is a distinct advantage of the coronal view. Nevertheless, more obliquely oriented surfaces (preculminate, primary, inferior posterior, inferior anterior, and intrabiventral fissures) and deep hemispheric structures (primary white-matter tracts to central, anterior quadrangular, and floccular lobules) may be obscured by volume-averaging in the coronal plane; moreover, much of the finer anatomy of the vermis is depicted poorly. The constant surface and deep anatomy of the cerebellum revealed on coronal images in normal volunteers encourages detailed mapping. MR imaging in the coronal plane should be especially useful in identifying, localizing, and quantifying normal and abnormal morphologic differences between the cerebellar hemispheres.

Cerebellar hemisphere size was calculated in 10 autistic and 8 normal control subjects by summing the cross-sectional areas of cerebellar hemisphere tissue measured on paramidline sagittal magnetic resonance images. The areas of two cerebellar vermal regions (lobules I through V and lobules VI through VII) were also measured using the midsagittal image. Our cumulative slice area measure of cerebellar hemisphere size was significantly smaller in the autistic subjects than in the control group. The cumulative slice area correlated positively with the area of vermal lobules VI through VII only in the autistic subjects. Our results indicated that the decreased size of the cerebellar hemispheres and vermal lobules VI through VII was associated with autism.