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Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
Dr Siddharth Shah
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Dr Siddharth Shah

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  • 1. Dr Siddharth Shah 22nd July 2012
  • 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.  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.  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.  2nd episode of stroke in March 2012, involving the same side, recovered over 4-6 weeks. Hypertrichosis
  • 6.  Birth history- normal Early development- normal 1 brother and 2 sisters, Both parents alive, Grandfather has diabetes mellitus
  • 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.  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.  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.  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. Neurogenetics Jan 2011

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