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Gautam Ghosh, Archana Vyas, Tarun Chowdhury
B R Singh Hospital for Medical Education & Research, Sealdah, Kolkata, India

Address for Correspondence: Dr. Gautam Ghosh, 23 Ramesh Mitra Road, Kolkata 700025, West Bengal, India. Email:

A 7 years old girl born of non-consanguineous marriage presented with painful, non pitting progressive swelling over left thigh and leg along with popliteal cyst for 9 months. She had asymmetric non pitting swelling of right half of face and hand for past 3 years. She had an epidermal nevus on right chest since birth. Development was normal. On anthropometry, her right upper limb circumference was 2 cm more than left side, mid forearm circumference was 1.5 cm more on right than left, mid thigh circumference was 1 cm more on left than right, and mid leg circumference was 3.5 cm more on left than right. Her right palm and mid face also showed hypertrophy as compared to the left. Systemic examination was normal. Doppler of limbs was normal. Tele- lymphangiography of both hands & legs, karyotype for Turner’s Syndrome, mutation in AKT1 kinase for Milroy-Meig’s disease were negative. CT brain showed hemi-megalencephaly on right side (figure 1) and whole body bone scan showed mild asymmetric thickening of long bones in right upper limb and left lower limb. CT abdomen was normal. Muscle biopsy from affected lower limb showed the typical histology of unique muscular dysgenesis, where abnormal zones were adjacent to zones of normal muscle formation and did not follow anatomic boundaries, which clinched the diagnosis.

What is the diagnosis_?

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