11 year old boy, North Gujarat Father is a farmer, mother is a housewife First concerns at 3 years of age- had a generalised prolonged seizure Has had further generalised seizures since
At 4 years of age had a diarrheal illness- was found to have hypoglycemia on the same occasion Till 8 years of age continued having recurrent episodes of hypoglycemia- none since. 8 years of age was noticed to have bilateral deafness
At 9 years of age was investigated for generalised edema, confirmed to have proteinuria and treated 10 years 2 months stroke involving the left side Recovered completely- slow recovery over 4- 6 weeks.
2nd episode of stroke in March 2012, involving the same side, recovered over 4-6 weeks. Hypertrichosis
Birth history- normal Early development- normal 1 brother and 2 sisters, Both parents alive, Grandfather has diabetes mellitus
RBS- 13 ( 3 years of age ) Thyroid profile, cortisol and growth hormone- normal Urine ( 4 years )- presence of pus cells, red blood cells, epithelial cells and occ. Casts Renal function tests- normal Liver function tests- normal
BERA- bilateral profound sensorineural loss EEG- normal MRI Brain- confluent symmetric white matter change, involvement of pyramidal tracts and thinning of corpus callosum, cystic areas involving bilateral periventricular deep white matter and centrum semiovale MR Angiography- normal
TCA cycle (carbohydrates) and fatty acid oxidation (fat)- respiratory chain- ATP In every cell- in every organ (brain, muscle) Mt DNA- MELAS, MERRF, LHON, KSS, Leigh’s Nuc DNA- Leigh’s, PDC, Complexes Maintainence- MNGIE, NNH, Alper’s, LBSL