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Pediatrics/9-Month baby - possible Costeff syndrome



My daughter, Hetvi Joshi, is now 9 months old but seems to have some issues.

1. Not able to hold her head.
2. Not able to roll over.
3. Not able to sit by her own.
4. her muscles seem to have stiffened lately (legs and hands primarily)
5. She was 2.5kg at birth (20-Jul-2012) and her weight was around 5Kg in January 2013 but since then, it is not increasing. In fact it has reduced recently by 200 gms or so.
6. Both her eyes were operated for cataract in Nov 2012. However, doctor says that her optic nerve is weak so can't say if and how much her vision will develop.

On positive notes, she seems to be able to recognize voice and enjoys hearing to songs.

We have done quite a few reports (including brain MRI) and there are couple of metabolic disorders Biotin deficiency (hyper-tonia) and elevated methylglutaconic aciduria Type 3 - Costeff syndrome

All her reports are at

We are also taking her once a week for physiotherapy and doing exercises daily at home.

We have consulted quite a few doctors here but seem to be still not able to get to the root of it.
If you can have a look and suggest anything to help, that will really be greatly appreciated!

We are willing to travel to UK or anywhere else if you think it will help.
Thanks in anticipation!


Sorry for late reply.
Things are not that easy in this case. I need to sit and discuss- explain various issues with family to have multidimensional improvement..
Root cause in each problem may not be treatable.. but problems are finely manageable.
Till then involve an occupational therapist in the management.


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Dr Kondekar Santosh Venketraman Pediatrician MD, DNB, Mumbai India, Online Pediatrician


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