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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Suggest Treatment For Global Developmental Delay In A Child

My son Shantanu 8 years is suffering from global developmental delays. At birth he had Multiple congenital defects-Unequal eyes , accessory thumb in right hand, wide spaced nipples, epicanthic fold , un-descended testes. Apgar rating- 10/10. MRI at 4 months age suggested Nodular lesions along the lateral wall suggestive of heterotopias. The eill defined enhancing lesions suggestive oftelagiectasia. MRI at 7 years suggested ?tubular sclerosis. At present he is suffering from Hyper ventilation ending with holding of breath for 10-18 seconds. Extra force applied on lungs for holding breath results in falling down/ loss of control on limbs. Remains conscious during fall and gets up immediately. No tightening of muscles or rolling up of eyes. No abrupt movement. EEG did not suggest of seizures. Chest clear. Doctors say that pons are affected resulting in Hyper ventilation                                                                  
Fri, 28 Aug 2020
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Pediatrician 's  Response
Hi,

This resulted from a probable genetic abnormality (as there are multiple defects) which caused abnormal brain development (heterotopias). The said movements are dystonias, and not seizures. The abnormal breathing also is part of brain dysfunction. We cannot offer him a complete cure; but we can offer physiotherapy, drugs to control dystonia and other supportive measures to improve his condition. Kindly follow up with a pediatric neurologist.

Take care. Hope I have answered your question. Let me know if I can assist you further.

Regards,
Dr. Muhammed Aslam T. K., Pediatrician
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Suggest Treatment For Global Developmental Delay In A Child

Hi, This resulted from a probable genetic abnormality (as there are multiple defects) which caused abnormal brain development (heterotopias). The said movements are dystonias, and not seizures. The abnormal breathing also is part of brain dysfunction. We cannot offer him a complete cure; but we can offer physiotherapy, drugs to control dystonia and other supportive measures to improve his condition. Kindly follow up with a pediatric neurologist. Take care. Hope I have answered your question. Let me know if I can assist you further. Regards, Dr. Muhammed Aslam T. K., Pediatrician