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Friedreich’s Ataxia With Nephrotic Syndrome and Convulsive Disorder: Clinical and Neurophysiological Studies With Renal and Nerve Biopsies and An Autopsy

Published online by Cambridge University Press:  18 September 2015

G.V. Watters ,
S.H. Zlotkin ,
B.S. Kaplan ,
P. Humphreys  and
K.N. Drummond
G.V. Watters*
Affiliation:
the Neurology and Nephrology Services of The Montreal Children’s Hospital and McGill University, Montreal
S.H. Zlotkin
Affiliation:
the Neurology and Nephrology Services of The Montreal Children’s Hospital and McGill University, Montreal
B.S. Kaplan
Affiliation:
the Neurology and Nephrology Services of The Montreal Children’s Hospital and McGill University, Montreal
P. Humphreys
Affiliation:
the Neurology and Nephrology Services of The Montreal Children’s Hospital and McGill University, Montreal
K.N. Drummond
Affiliation:
the Neurology and Nephrology Services of The Montreal Children’s Hospital and McGill University, Montreal
*
Neurology Service, The Montreal Children’s Hospital, 2300 Tupper Street, Montreal, Quebec, Canada, H3H 1P3
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In a sibship of four, Friedreich’s ataxia and minimal lesion nephrotic syndrome occurred in two siblings, a third sibling had Friedreich’s ataxia, but no evidence of nephrotic syndrome; the fourth sibling had neither condition. The chance of Friedreich’s ataxia and minimal lesion nephrotic syndrome occurring in two siblings is small, and suggested a common immunological abnormality. High dose prednisone and antimetabolites given for the nephrotic syndrome did not appear to affect the course of Friedreich’s ataxia.

The two siblings with Friedreich’s ataxia and nephrotic syndrome developed epilepsy at age 15 years. All three children with Friedreich’s ataxia had abnormal electroencephalograms (EEGs). These epileptiform EEG abnormalities were probably inherited from the mother, who had spike wave epilepsy. The neurologic deficits of Friedreich’s ataxia, in turn, may have allowed the EEG trait to be expressed as a seizure disorder. The progressive ataxia and epileptic, sometimes myoclonic, seizures in these patients and the dentate nucleus changes in the autopsied patient were consistent with the diagnosis of dyssynergia cerebellaris myoclonica. This suggested that the latter disorder may represent a coincidence of two genetic entities: Friedreich’s ataxia and spike wave epilepsy.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 8 , Issue 1 , February 1981 , pp. 55 - 60
Copyright
Copyright © Canadian Neurological Sciences Federation 1981

References

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