Dr Siddharth Shah

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Dr Siddharth Shah

  1. 1. Dr Siddharth Shah 22nd July 2012
  2. 2.  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
  3. 3.  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
  4. 4.  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.
  5. 5.  2nd episode of stroke in March 2012, involving the same side, recovered over 4-6 weeks. Hypertrichosis
  6. 6.  Birth history- normal Early development- normal 1 brother and 2 sisters, Both parents alive, Grandfather has diabetes mellitus
  7. 7.  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
  8. 8.  USG abdomen- hepatomegaly USG KUB- normal Clotting profile- normal Ammonia- normal Lactate- 9.4 mmol/litre On Glucose tolerance test- lactate 6 (after 45 mins )
  9. 9.  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
  10. 10.  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
  11. 11. Neurogenetics Jan 2011

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