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Infantile Type of So-Called Neuronal Ceroid-Lipofuscinosis

Published online by Cambridge University Press:  01 August 2014

Pirkko Santavuori ,
Matti Haltia ,
Juhani Rapola ,
Christina Raitta  and
Antti Keranen
Pirkko Santavuori*
Affiliation:
Eye Hospital and Children's Hospital, University of Helsinki, Finland
Matti Haltia
Affiliation:
Eye Hospital and Children's Hospital, University of Helsinki, Finland
Juhani Rapola
Affiliation:
Eye Hospital and Children's Hospital, University of Helsinki, Finland
Christina Raitta
Affiliation:
Eye Hospital and Children's Hospital, University of Helsinki, Finland
Antti Keranen
Affiliation:
Eye Hospital and Children's Hospital, University of Helsinki, Finland
*
Children's Hospital, University of Helsinki, Helsinki, Finland

Abstract

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Attention was recently drawn to a progressive encephalopathy with early amaurosis. The disease has its clinical onset at the age of 8-18 months with rapid psychomotor deterioration, ataxia, muscular hypotonia. In the 45 cases examined microcephaly and myoclonic jerks were other prominent features; convulsions were few or did not occur at all. In all patients the disease reached a burnt-out stage during the third year. After the age of 5 years all children had a permanent increased flexor tonus in all limbs and flexion contractures were common. The mean age of death was 7.6 years. Early extinction of ERG, typical ophthalmological findings, and EEG records rapidly approaching isoelectricity were additional features.

The disease has an autosomal recessive mode of inheritance. A total of 52 cases are known in Finland. Histologically, an almost total destruction of cerebral and cerebellar neurons was observed. The surviving neurons and glial cells contained granular material which histochemically resembled lipofuscin but ultrastructurally differed from those in earlier reported patients with neuronal ceroid-lipofuscinosis. The cases observed seem to form a clearly separable infantile type of so-called neuronal ceroid-lipofuscinosis.

Type
5. Free Contributions: First Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 197 - 200
Copyright
Copyright © The International Society for Twin Studies 1974

References

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