Cockayne syndrome, xeroderma pigmentosa: a rare case report
نویسندگان
چکیده
منابع مشابه
Rare case of Cockayne syndrome with xeroderma pigmentosum.
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...
متن کاملXeroderma pigmentosum-Cockayne syndrome complex
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP an...
متن کاملXeroderma pigmentosum--Cockayne syndrome complex: a further case.
We report on a male patient born to healthy, first cousin, Moroccan parents. During the pregnancy growth retardation was observed. Birth weight, length, and OFC were all well below the 3rd centile. Facial anomalies, microphthalmia, cleft palate, small penis, and flexion contractures of large joints were noted. Cerebral MRI showed dysmyelination. The clinical course was characterised by feeding ...
متن کاملCockayne syndrome: a case report.
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. ...
متن کاملA 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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ژورنال
عنوان ژورنال: International Journal of Contemporary Pediatrics
سال: 2021
ISSN: 2349-3291,2349-3283
DOI: 10.18203/2349-3291.ijcp20210666