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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Does Report Suggest?

I am just trying to find someone to explain this. Strange case report Delivery was by cesarean section, because to date 31 / 3 no signs, so we opted for surgery. Peter was born very well. He cried immediately and had Apgar note 9. He was born with 48 cm and weighed 3.430 kg. His first year was great, with perfect development and no disease. She sat with five months, walked at 11 months, said the first words 7 months and before that emitted sounds have a natural baby. With a year and two months, one afternoon during sleep, woke Peter scared as you were choking. This was repeated for a few more days until we went to the doctor. This saw a crisis, suspected gastroesophageal reflux, and requested some examinations. At this time, these crises happened about 10 times a day and lasted about 15 seconds. As the tests did not show anything, on medical advice, seek a child neurologist who said that it was seizures. We did a first electro encephalogram was normal. We seek the Dr.Salomão Schwartzmam, who wrote and considered it logically perfect. During this period, the crisis increased in quantity and intensity. As of August 90 he was admitted to ICU for the first time about a crisis every three minutes. It was 20 days in the hospital and left with crises more controlled. He did a CT scan that was normal. The second electro accused irritable focus on the right brain. Despite all this, its development was still normal, but seemed to be more sleepy. The crisis continued, they were mixed seizures. On October 90, realized he was smiling less, less crying and when she smiled, the left side of his face was paralyzed. On November 90, I noticed that he wore under his left arm. The doctors called sequels. In December 90 we had a magnetic resonance imaging, an examination of the fundus some tests to detect inborn errors of metabolism. All tests were normal. At that time, he had difficulty walking and talking less. He kept an average of about 20 attacks per day. During seven months we changed doctors several times antiepileptic were tested. But the effect was never completely satisfactory. And he was hospitalized two more times to manage crises more likely in January 91, Peter was admitted once again and left the hospital unable to walk, sit or talk. In February, she was again hospitalized with severe crises, was 20 days in the hospital. The crisis has lasted for 1 min, manifesting itself every 10 min. On this occasion, was given cortisone and did several tests metabolism, but nothing was found ... The motor skill it was weakened. When she was discharged, not holding the head, not sitting alone and did not seem to recognize anyone, and do not fix your eyes on anything. Time passed, and physical therapy sections with great affection and Peter was getting some small progress. We continued our marathon and medical examinations, but nothing happened. Their attacks were a little more controlled, manifesting only during sleep, about 8 episodes per night, lasting about 1 min. At the end of 95, he spent several consecutive days without presenting crisis. In recent years, repeated some tests, but nothing new was found. He had pulmonary complications and took a lot of antibiotics. Over the past 95 months, Peter regained control of the head and gained greater strength in the trunk. He began to fix their gaze on people and objects, but still did not wish to catch them. His face was more expressive, although not to laugh or cry. On January 96, we repeat the MRI showed that just like the previous one, according to the doctor who signed the report. Dr. Fernando Arita, your doctor now, was diagnosed with a brain that Peter has a little less dense than a child of 7 years. Again also the electro encephalogram, which played much better than the previous one, with more localized crises. We also study a the karyotype (father, mother and son) with Dra.Rita Cassia Stoco and nothing was found. Mitochondrial Diseases said suspect and suggested we take a DNA study. It was also made, a dose of amino acids in the blood and chromatography of urine sugars. Currently, Peter has about four seizures during sleep, especially from the morning. In his crisis stretches arms and legs, turns his head left and cry .. They last about 45 seconds. His attention remains fixed on people and objects, but does not move spontaneously. It recovered its reasonable control of the trunk, but not sit, not stand, does not speak, smile or cry. In the last two years, he developed a scoliosis of great concern. Is treated with Rivotril, and Valpakine Tryleptal. Peter currently is 15 years. During all these years, we did not find an answer to what happens to Peter, and also never find someone with similar problem to share experiences .. If you can help, if you ever met a doctor or child with the same problem, please write to us. If not, pass this message forward to find the right destination. Thank you, Liane and Manoel. Our address: Rua Conselheiro Brotero, 1559 CEP 01232-011 São fit 134 Paulo - SP - BRAZIL Phone: (11) 3662.4826 PS: The simple fact of passing this message, it is itself an act of solidarity. I urge all people who have received this message, please try to be aware of the need that we, beings humans have to receive help from each other. Send this message to everyone on your list, since that you write every day, until the person do not you write for a long time ... So we can maybe help this family ... It is always a bit of perfume on the hands that offer roses (...)
Tue, 2 Jun 2015
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Pathologist and Microbiologist 's  Response
Hi I did review your concern.
This is a very unique case and requires proper research and care.
It seems that he had neurological manifestations getting in order over his age.It can be due to either inborn error of metabolism or mitochondrial disorder or it could be due to one of the rare leukodystrophies and most of them unfortunately have no treatment.
I would recommend a complete molecular genetic analysis of peter and also a proteomic study of peters organ tissues if permitted by you guys by a highly advanced laboratory.
I will also keep this case in mind and get in touch if i find a similar case in future.
I hope this helps
wish you all the best
thank you for choosing health care magic.
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What Does Report Suggest?

Hi I did review your concern. This is a very unique case and requires proper research and care. It seems that he had neurological manifestations getting in order over his age.It can be due to either inborn error of metabolism or mitochondrial disorder or it could be due to one of the rare leukodystrophies and most of them unfortunately have no treatment. I would recommend a complete molecular genetic analysis of peter and also a proteomic study of peters organ tissues if permitted by you guys by a highly advanced laboratory. I will also keep this case in mind and get in touch if i find a similar case in future. I hope this helps wish you all the best thank you for choosing health care magic.