内科: オープンアクセス
オープンアクセス

概要

Werner Syndrome: A Case Report of Two Brothers of Pangeria

Sama Metwally*, Loai El Ahwal, Khalid Zaghlol, Najwa Alwan and Raghda Gabar

Werner syndrome is considered inherited premature ageing and genomic instability syndrome. It is an autosomal recessive disorder in which aging process is accelerated starting after puberty. It is also termed as Progeria adultorum.

The hallmark features are short stature, senile facies, scleroderma like skin (dry atrophic skin, mottled darkness, telangiectasia, sclerodactyly, and gangrene), cataract, hypogonadism, contractures of skin over joint, premature atherosclerosis, loss of subcutaneous fat and ulcers over feet and leg. Treatment of painful ulcers is difficult with increased risk of malignancy (fibro sarcoma in 10% of patients). Death is usually occurring in the fourth to sixth decade due to myocardial infarction or malignancy.

We reported 2 brothers of Pangeria of positive consanguinity parents the older is 40 years old, short stature, senile facies with bilateral hip joint replacement, chronic leg ulcer, bilateral cataract extraction and the younger is 35 years old, short stature, senile facies, infertile, previous cataract extraction with bone deformity. The later presented to us in outpatient clinic, Internal Medicine department, Tanta university Hospital, Egypt for preoperative assessment for cataract operation. We admit the patient to investigate him and to confirm our provisional diagnosis as regard Werner syndrome. As no definite treatment for this disorder and death usually occurs in the fourth to sixth decade, early diagnosis and follow up is beneficial and screening for malignancies and associated diseases should be performed regularly.