Abstract：
INTRODUCTION:Cockayne syndrome (CS) is a rare autosomal recessive disease which is characterized by physical and mental retardation, progressive neurological disfunction, photosensitivity and other cutaneous features. Usually they present ophthalmologic abnormalities as well as other heterogenous clinical, radiological and pathologic features as leucodistrophy and calcifications in central nervous system and segmental demyelination in peripheral nervous system. CLINICAL CASES:Two brothers, sons of healthy unrelated parents, are presented. The first patient was referred at 8 months of age because of psychomotor retardation and the second one at 5 months old because of a cataract. At the age of 2 years both presented a complex clinical picture with photosensitivity, growth and mental retardation, peripheral neuropathy, neurosensorial deafness, and cerebral atrophy and calcifications in neuroimaging diagnosis tests. In the following years the older brother presented signs of renal failure, cataracts and retinopathy, and died at 9 years old because of a respiratory infection. The neuropathologic study showed a discrete neuronal loss and diffuse demyelination with calcium deposits in cerebral white matter and basal ganglia. Today the second patient is 8 years old and shows a clinical course similar to that of his brother. CONCLUSIONS:Clinical, radiologic and pathologic features in our patients support the diagnosis of CS type II.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Olaciregui O,Yoldi ME,Gurtubay IG,García-Bragado F,Carrera B,Gila L,Morales Gsubject
Has Abstractpub_date
2001-10-01 00:00:00pages
628-31issue
7eissn
0210-0010issn
1576-6578journal_volume
33pub_type
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