Abstract
Purpose: To clarify magnetic resonance imaging (MRI) findings in three adult patients
with Rett syndrome who had been diagnosed with mental retardation and autism.
Method: 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.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Brain and DevelopmentAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.Nat Genet. 1999; 23: 185-188
- Methyl-CpG-binding protein 2 mutations in Rett syndrome.Curr Opin Genet Dev. 2000; 10: 275-279
- The Rett Syndrome: magnetic resonance imaging and clinical findings in four girls.Brain Dev. 1989; 11: 175-178
- Cranial computed tomographic and magnetic resonance imaging studies on the Rett syndrome.Brain Dev. 1990; 12: 101-105
- Four adult Rett patients at an institution for the handicapped.Pediatr Neurol. 1991; 7: 289-292
- Cerebellar and cerebral abnormalities in Rett syndrome: a quantitative MR analysis.Am J Roentgenol. 1992; 159: 177-183
- Neuroanatomy of Rett syndrome: a volumetric imaging study.Ann Neurol. 1993; 34: 227-234
- Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR.Am J Neuroradiol. 1994; 15: 1443-1453
- Neuroanatomy in Rett syndrome: cerebral cortex and posterior fossa.Neurology. 1997; 48: 399-407
- Diagnostic criteria for Rett syndrome.Ann Neurol. 1988; 23: 425-428
- Rett Syndrome: clinical peculiarities and biological mysteries.Acta Paediatr. 1995; 84: 971-976
- Hagberg B. Rett Syndrome: clinical and biological aspects. Mac Keith Press, London1993
- Pons tumour behind a phenotypic Rett syndrome presentation.Dev Med Child Neurol. 1998; 40: 836-839
- Neuropathology of Rett syndrome.Acta Neuropathol. 1988; 76: 142-158
- Brainstem and cerebellar vermis involvement in autistic children.J Child Neurol. 1993; 8: 149-153
- An MRI study of the corpus callosum and cerebellum in mentally retarded autistic individuals.J Neuropsychiatry Clin Neurosci. 1999; 11: 470-474
- Magnetic resonance imaging study of the brain in autism.Psychiatry Clin Neurosci. 1998; 52: S219-S222
Article info
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
