Lumps and Bumps

Githin Benoy George MD, DM, DrNB, FEBN*¹, Thomas Iype MD, DM, MRCP², Elizabeth Preethi Thomas MD³

1. Consultant Neurologist, KIMS ALSHIFA Superspeciality Hospital, Perinthalmanna, Malappuram district, Pin 679322, Kerala, India.

2. Professor and Head of the department of Neurology, Government Medical College Thiruvananthapuram, Kerala, India.

3. Senior Resident, Department of Paediatric Neurology, Government Medical College Thiruvananthapuram, Kerala, India.

Corresponding Author: Githin Benoy George, Consultant Neurologist, KIMS ALSHIFA Superspeciality Hospital, Perinthalmanna, Malappuram district, Pin 679322, Kerala, India.

Copy Right: © 2022 Eleonore Brocq, This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Received Date: September 21, 2022

Published Date: October 01, 2022

A 19-year-old male born out of third-degree consanguinity presented with insidious onset toe walking and difficulty in getting up from squatting position, thinning of both calves, difficulty in getting up from the chair, not able to walk or run fast, buckling of knees and ankle twisting.

Diamond in Quadriceps sign, Biceps lump, Calf wasting, Extensor Digitorum Brevis hypertrophy and plantar flexion contractures of the ankle all pointed to Dysferlinopathy. (1)

CPK was 22,896 (mcg/L). Genetic testing revealed DYSF+, location Intron49, homozygous, Autosomal Recessive-pathogenic-(LGMD 2, Miyoshi muscular dystrophy -1, Distal Myopathy with anterior tibial onset).

References

1. Khadilkar SV, Patel BA, Lalkaka JA. Making sense of the clinical spectrum of limb girdle muscular dystrophies. Pract Neurol. 2018 Jun;18(3):201–10.