A 59-year-old woman who presented initially with clinical and histological features of collagenous colitis subsequently developed Crohn’s disease of the small and large bowel.
The case of a woman who had a mild mental and physical handicap all her life is described. At the age of 39 years she began a progressive deterioration which terminated with her death after a year. CT scanning revealed basal ganglia calcification and at necropsy there was evidence of widespread generalised myelin loss with extensive Rosenthal fibre formation. The hypothesis that this may be an adult form of Alexander's disease is discussed. Alexanders disease is a primary leucodystrophy of unknown aetiology. The typical clinical features are of infantile onset, megalencephaly, dementia and increasing spasticity. Progression is inexorable, leading to death within months to a few years from the onset. Histologically, the principal abnormalities are widespread demyelination and extensive Rosenthal fibre formation. Cases with similar pathological features occurring in adults have been reported before but review of their clinical features reveals a remarkably heterogeneous group. Our patient differs from all those described previously in her clinical presentation and in the pathological abnormalities found at post mortem. Case report MG was born in 1937 after an uneventful pregnancy. There was no parental consanguinity, or family history of neurological disease and she had a normal male sibling. She is said to have been blue at the time of birth and there may well have been a period of perinatal hypoxia. Motor milestones were all delayed but she learned to walk eventually, although always with an abnormal gait, tending to drag her left leg. Mentally she was mildly retarded. She attended a normal school, however, and eventually learned to read and write. She was unable to work regularly and lived in a protected home environment. At the age of three, she developed generalised convulsions, but these were never difficult to control. Her condition remained static
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