Your SlideShare is downloading. ×
Dr Siddharth Shah
Upcoming SlideShare
Loading in...5
×

Thanks for flagging this SlideShare!

Oops! An error has occurred.

×

Introducing the official SlideShare app

Stunning, full-screen experience for iPhone and Android

Text the download link to your phone

Standard text messaging rates apply

Dr Siddharth Shah

375
views

Published on

Published in: Health & Medicine

0 Comments
1 Like
Statistics
Notes
  • Be the first to comment

No Downloads
Views
Total Views
375
On Slideshare
0
From Embeds
0
Number of Embeds
0
Actions
Shares
0
Downloads
3
Comments
0
Likes
1
Embeds 0
No embeds

Report content
Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

Cancel
No notes for slide

Transcript

  • 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