Hamstring lump in two muscular dystrophies: A novel observation

摘要

We describe a patient of DMD with unusual lumps in the hamstrings and soleus, and another patient of LGMD-2A with unusual lumps in the hamstrings and quadriceps [Table 1 and Figure 1]. Patient with DMD had a unique, not described earlier, hamstrings lump akin to "diamond on quadriceps" as well as markedly prominent soleus jutting out from the two heads of gastrocnemius. Patient with calpainopathy had "diamond on quadriceps" as well as "diamond on hamstrings". Although immunoblot was not available, we feel that the phenotype, histopathological findings and immunopositivity for dystrophin, merosin, a-sarcoglycan, and dysferlin, provided sufficient substrate to make the diagnosis of calpainopathy with fair amount of certainty.161 The presence of lobulated fibers, in the setting of a normal immunohistochemical pattern, is supportive in this regard to dissect out calpainopathy from the various chronic myopathies in which they may be seen.