Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation.

We present an 11-year-old girl with sudden, severe, sequential optic neuropathy. Investigations revealed severe vitamin B12 deficiency, and identified a novel mitochondrial ND5 variant. She was treated with steroids followed by plasma exchange, but the vision continued to deteriorate to eventual bilateral blindness over the next few months. Vitamin B12 deficiency can rarely cause severe irreversible visual loss secondary to optic neuropathy. The significance of the concurrent mitochondrial ND5 variant remains undetermined.

Cervical cancer: outcome of treatment and causes of failure.

OBJECTIVE: To summarize the data and look into the various treatments offered to cervical cancer patients at Institute of Nuclear Medicine and Oncology (INMOL) to highlight the most likely causes of treatment failure. METHODS: In this retrospective study, case files of all patients presenting with invasive carcinoma of uterine cervix during 1993-2002 were studied in respect to personal profile, disease related risk factors, pathological characteristics, treatment administered and outcome in the form of tumour response and survival. RESULTS: Early age at marriage, multiple marriages of self or spouse, multiparty, prolonged use of contraceptives and smoking were some of the risk factors for cervical cancer in this group of patients. Out of 618 patients presenting with invasive cervical cancer, 65% presented in advanced stages II and III. Apart from advanced stage at presentation, anaemia, poor nutrition, and ignorance about self-hygiene and lack of follow-up were main causes of treatment failure. Outcome of treatment was improved when chemotherapy was added to radiation. CONCLUSION: Advanced stage at diagnosis and lack of follow-up were main causes of treatment failure. Implementation of screening programs on national level for early detection is therefore recommended.