Nota Clínica

Clinical and neuropathological study of two brothers with Cockayne syndrome

O. Olaciregui, M.E. Yoldi-Petri, I.G. Gurtubay-Gallico, F. García-Bragado, B. Carrera, L. Gila, G. Morales [REV NEUROL 2001;33:628-631] PMID: 11784950 DOI: https://doi.org/10.33588/rn.3307.2001119

OPEN ACCESS

Volumen 33 | Number 07 | Nº of views of the article 7.584 | Nº of PDF downloads 419 | Article publication date 01/10/2001

Download PDF Castellano Citation Search in PubMed

Share in:

Go to another issue

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 ophtalmologic abnormalities as well as other heterogeneus 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 diffusse 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. KeywordsCataracts Cockayne Syndrome Demyelinating disease Intracranial calcifications Neurosensorial deafness Peripheral neuropathy Photosensitivity Pigmentary retinopathy CategoriesEsclerosis múltiple Nervios periféricos, unión neuromuscular y músculo Patología vascular

FULL TEXT (solo disponible en lengua castellana / Only available in Spanish)

Acceso directo al último número

Último Podcast

Nota Clínica

Clinical and neuropathological study of two brothers with Cockayne syndrome