Primary thrombophilia

Abstract

We would like to present an early age of presentation of primary Thrombophilia with progressive course due to Protein C deficiency type 1 with a lot of challenges in the treatment options.

M.A.M, 9years old, female from small village near Eldweem, White Nile state, Sudan. 3rd grade primary school admitted in Omdurman pediatric emergency hospital on 12th April 2011 with convulsions five hours before admission. The condition started one month before presentation with blurred vision of progressive course started in the RT eye, then it became bilaterally till she became completely blind ,parents seek medical advice at private ophthalmology clinic, medications was prescribed but she regained vision after two days without starting the treatment. A week later the mother noticed that her baby developed squint , bilateral ptosis and She was sleepy also there is severe frontal headache on &off with no aggravating or relieving factor associated with difficulty in walking and slurred speech, seen by a doctor at health centre and diagnosed as malaria based on investigations received oral anti-malarial with no response, Three days later she developed low grade fever not relieved by paracetamol not associated with rigor or sweating then she developed convulsions started in her hands then became generalized last for less than 5 minutes not followed by loss of conscious or sphintric disturbance so parents brought her to Omdurman Pediatrics Emergency Teaching Hospital.