Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

We report a 24-year-old male with an unusual combination of two inherited neuromuscular disorders – Charcot-Marie-Tooth (CMT) disease type 1A and Duchenne muscular dystrophy (DMD). A phenotypic presentation of this patient included features of both these disorders. Nerve conduction studies revealed demyelinating peripheral neuropathy. Electromyography showed a profound myogenic pattern. The serum creatine kinase level was highly elevated. Muscle biopsy revealed a dystrophic picture with deficient dystrophin immunostaining. CMT1A duplication on chromosome 17p11.2 was found. The frame-shift mutation c.3609–3612delTAAAinsCTT (p.K1204LfsX11) was detected in the dystrophin gene by analysing mRNA isolated from the muscle tissue. The patient inherited both these mutations from his mother. The combination of CMT1A and DMD has not been reported as yet.     

Gun shot wound neck

All penetrating neck wounds are potentially very dangerous and require emergency treatment. The choice of treatment for the stable patient remains controversial, a number of studies encouraging mandatory surgical exploration and a similar number encourage selective surgical exploration. Knowledge of the physical properties of the penetrating object or weapon can help to determine a treatment plan and predict the risk of injury- All tracheal and esophageal injuries with structural damage should be repaired primarily. A case of Gun Shot Wound Neck was air evacuated to Army Hospital R & R Delhi Cantt in a tracheostomised state. Patient was evaluated in detail, he had trachea esophageal fistula. The management of this case is discussed along with principles of management of war injuries.