Case presentationDr Siddharth Shah

22nd July 2012

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

Case details

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

Background

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

Blood results

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 )

Other investigations

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

Mitochondrial syndromes with leukoencephalopathies

Neurogenetics Jan 2011

Respiratory chain complex