Infantile type of so-called neuronal ceroid-lipofuscinosis

1973 ◽  
Vol 26 (2) ◽  
pp. 157-170 ◽  
Author(s):  
Matti Haltia ◽  
Juhani Rapola ◽  
Pirkko Santavuori
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis ◽  
Infantile Type

Infantile Type of So-Called Neuronal Ceroid-Lipofuscinosis

1974 ◽  
Vol 23 (S1) ◽  
pp. 197-200 ◽  
Author(s):  
Pirkko Santavuori ◽  
Matti Haltia ◽  
Juhani Rapola ◽  
Christina Raitta ◽  
Antti Keranen
Keyword(s):  
Autosomal Recessive ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Muscular Hypotonia ◽  
Ceroid Lipofuscinosis ◽  
Clinical Onset ◽  
Total Destruction ◽  
Progressive Encephalopathy ◽  
The Mean ◽  
Infantile Type ◽  
Age Of Death

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.

Fetal tissue involvement in the late infantile type of neuronal ceroid lipofuscinosis

1993 ◽  
Vol 13 (9) ◽  
pp. 833-841 ◽  
Author(s):  
C. W. Chow ◽  
J. Borg ◽  
V. R. Billson ◽  
B. D. Lake
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Fetal Tissue ◽  
Ceroid Lipofuscinosis ◽  
Infantile Type

Infantile Type of So-called Neuronal Ceroid-lipofuscinosis

2008 ◽  
Vol 16 (5) ◽  
pp. 644-653 ◽  
Author(s):  
Pirkko Santavuori ◽  
Matti Haltia ◽  
Juhani Rapola
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis ◽  
Infantile Type

Palcental pathology and prenatal diagnosis of infantile type of neuronal ceroid-lipofuscinosis

1988 ◽  
Vol 31 (S5) ◽  
pp. 99-103 ◽  
Author(s):  
Juhani Rapola ◽  
Prikko Santavuori ◽  
Hannu Heiskala ◽  
John M. Opitz ◽  
James F. Reynolds ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis ◽  
Infantile Type
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