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.     

Flexible and floating choroid plexus cyst of the third ventricle: an ultrasonographic video documentation

Introduction Choroid plexus cysts can lead to isolation of the lateral ventricles and distension of the third ventricle. We present an ultrasonographic video documentation of an infant with variably shaped and localized choroid plexus cyst of the third ventricle. Case report An infant had periods of increased intracranial pressure with changing dilatation of the first to third ventricle. Cerebral ultrasonography of the not crying boy demonstrated a choroid plexus cyst limply hanging down from the roof of the third ventricle to the beginning of the aqueduct of Sylvius. During crying, the cyst prolapsed from the third into left lateral ventricle and was strangled by the foramen of Monro. Endoscopic cyst fenestration and third ventriculostomy continuously solved the problem of intermittent hydrocephalus occlusus. Conclusion Depending not only on localization and size but also on cyst form and cerebrospinal fluid pressure, a single choroid plexus cyst can cause various obstructions of cerebrospinal fluid pathways.     

Iniencephaly and long-term survival: a rare case report

Introduction Iniencephaly, a neural tube defect involving occiput and inion and combined with rachischisis of the cervical, thoracic spine, and retroflexion position of the head is a very rare congenital abnormality of the fetus–newborn with a 0.1–10 of 10,000 prevalence. This abnormality’s prognosis is thought to be dismal. This abnormality can be associated with other abnormalities such as anencephaly, encephalocele, hydrocephalus, cyclopia, absence of the mandible, cleft lip and palate, cardiovascular disorders, diaphragmatic hernia, renal abnormalities, overgrowth of the arms compared to the legs, and club food and gastrointestinal atresia. Discussion Most of the patients are dead born, and the others die in a few hours. There are only six previously documented long-term survivors. In our case, our patient with iniencephalic signs and findings is still living. She is 2 years old now. We think that this patient presents a mild form of iniencephaly.     

PR35THE INCIDENCE OF NON‐MELANOMA SKIN CANCER IN NEW ZEALAND

Background It is estimated that skin cancers cost $33 million per annum to the New Zealand healthcare system. Basal cell carcinoma and squamous cell carcinoma are the commonest types of non melanoma skin cancers (NMSCs). Anecdotal evidence indicates that there has been a doubling in the incidence of NMSCs in New Zealand over the last decade. Because of the high incidence mandatory reporting of NMSCs to the National Cancer Registry is not required. This lack of accurate data has led to poor health care policies and strategies including funding and workforce planning. Aims The aims of this study are to (1) present the latest statistics on NMSCs in New Zealand, including the incidence across different regions over the last decade, patient demographics, anatomic distribution of NMSCs, incidence and sites of metastasis, and disease‐specific survival; to (2) the histopathology of NMSCs, including surgical margins, histologic grade, and perineural, lymphatic, and vascular invasion; and (3) the relative role of different faculties treating NMSCs. Method This project has been approved by the multi‐centre ethics committee. A retrospective review was conducted from patients’ histology records from public and private pathology laboratories within defined catchment areas. Criterion for analysis is a confirmed diagnosis of NMSC treated surgically. A Microsoft Access database is created that will facilitate subsequent data retrieval and analysis. Results and Conclusion It is hoped that this up‐to‐date data will form the framework for the development of sound and sustainable healthcare policies of management of NMSCs including management strategies and workforce planning, and research direction on this common disease.