Dear parent,
Thank you for your query at DoctorSpring.com
I am really sorry to know about your son's problems. Can understand your situation.
A child who is progressively becoming weaker and less active could be having a variety of problems. I hope that a detailed clinical history, a comprehensive clinical examination and a battery of tests have been performed before thinking about a MITOCHONDRIAL disease. Just going by lactate levels may not be appropriate. If you can scan and upload all the documents to me, I would appreciate it. Else, this consult would become just a formality.
1. Is there history of weight loss or loss of appetite? Is there any history of fever or night sweats? Is there any history of breathlessness on exertion? Is there history of chest pain, or palpitations? Is there any history of vomiting or abnormal stools (bulky, sticky, oily or foul smelling)? Is there history of recurrent infections in the past? Is there history of contact with tuberculosis? Is there any history of any swelling anywhere in the body? Is there any history of muscle aches? Is there any history of vision disturbances?
2. What were his physical examination findings? What did the doctor tell you? What has he/ she documented in your child's records?
3. What laboratory investigations have been performed? Has the child been tested for common infections such as HIV, Tuberculosis, etc? Has he been evaluated with a chest radiograph, echocardiography, etc? Has the child undergone testing such as Nerve conduction studies or muscle biopsies? Has he been tested for malabsorption?
Kindly provide the above details so that I can genuinely help your son.
Regards
Dr. Saptharishi L G