Neonatal onset Cockayne syndrome: A rare photogenodermatosis
نویسندگان
چکیده
منابع مشابه
A Rare Case of Cockayne Syndrome-MRI Features.
The Cockayne Syndrome is a rare syndrome of congenital originwhich is charcterized by growth retardation, facial dysmorphism, facial naevi,retinopathy and mental retardation, which are associated with the changes in the brain parenchyma. The findings of MRI of the brain support the clinical diagnosis of the Cockayne Syndrome. We would like to highlight the MRI findings of this rare syndrome.
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Sir, Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are rare genodermatoses characterized by hypersensitivity to ultraviolet light. XP is a hereditary autosomal recessive condition, manifested clinically by abnormal photosensitivity of the skin and eyes, pigment anomalies, increased risk of cutaneous neoplasms and, frequently, by progressive neural degeneration (1 ± 3). CS is a rare auto...
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A 4-year-old female with Cockayne syndrome presented for cataract extraction under general anesthesia. She was thin and frail; her neck, epiglottis and larynx were stiff; she was deaf and blind; and she could not speak, sit unaided, or perspire. At the time of her admission, she weighed 5.5 kg. Cockayne syndrome is a disease of childhood characterized by mental retardation and premature aging. ...
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CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and photosensitivity. We describe the neuroimaging features (MR imaging, ¹H-MR spectroscopy, and CT) in the various clinical subtypes of CS from a cohort of genetically and biochemically proved cases. Hypomyelination, calcifications, and brain atrophy were t...
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ژورنال
عنوان ژورنال: Indian Journal of Paediatric Dermatology
سال: 2016
ISSN: 2319-7250
DOI: 10.4103/2319-7250.184429