Werner syndrome: A rare cause of premature aging and multisystem complications in a young adult

Abstract

Case summary: A 31-year-old unmarried Bangladeshi man presented with severe growth arrest since age 6, progressive premature aging, premature greying and hair loss, a high-pitched husky voice, and non-healing ulcers over the left foot. He had a history of bilateral cataract surgery, diabetes mellitus, hypogonadism, and hypothyroidism. His elder brother had similar features, and there was a history of consanguinity. He had an aged appearance with severe wasting (weight 23 kg, height 150 cm, BMI 10.22 kg/m²). There was diffuse thinning and greying of hair, shiny tight hyperkeratotic skin, and nail erosion. Neurological examination revealed distal sensory impairment and absent deep tendon reflexes. Right wrist and elbow flexion contractures were present. Irregular 2 × 2 cm necrotic ulcers were noted over the left heel and malleoli. Investigations showed primary hypothyroidism (TSH 46.0 mIU/L, FT4 3.63 pmol/L), poor glycemic control (fasting glucose 12.4 mmol/L, HbA1c 8.7%), normocytic anemia (Hb 8.4 g/dL), and hypertriglyceridemia (483 mg/dL). ENA screening was negative, and lower-limb duplex ultrasonography excluded DVT. Genetic testing confirmed Werner syndrome and demonstrated a homozygous WRN mutation, c.1165delA,p.Arg389fs, in the patient and his affected elder brother; four other siblings were heterozygous. Management included multidisciplinary care with thyroid hormone replacement, glycemic and lipid control, nutritional support, wound care, ulcer management, physiotherapy, and regular cardiological, ophthalmologic and endocrine follow-up.

[J Assoc Clin Endocrinol Diabetol Bangladesh, 2026;5(Suppl 1): S66]