Suggest treatment for seizures and neuroglycopenic symptoms
Question: Hello - I live in the UK. My daughter is 19 years old, she'll be 20 on 3rd May. She is 170cm tall and weighs 50.8kg to 51kg. She was born in 1994 and had symptoms of extreme lethargy from birth. At 6 months old she began having seizures and other neuroglycopenic symptoms and was eventually diagnosed as having persistent hypoglycemia. She was diagnosed with hyperinsulinemic hypoglycemia and at 18 months old had a partial pancreatectomy. This immediately cured her hypoglycaemia and she was deemed to be cured. Although all her neuroglycopenic symptoms stopped, as she was growing up she continued to lack the energy which other children had, always looked tired out and needed a lot more sleep than other children. She's had an insatiable appetite all her life - and I really do mean 'insatiable'. She has eaten enormous quantities of food - all good, healthy, nutritious food - but lots and lots and lots of it. No matter how much she ate she always still felt hungry. Also, bearing in mind the enormous quantities of food she's eaten she's always remained very slim. I've never understood how she could eat so much yet still be hungry, remain so slim and have so little energy and feel so weak. She also suffered from increasingly sore legs on activity. In 2009 (age 15) her fatigue and weakness became really debilitating and she was admitted to hospital for tests. She was diagnosed with diabetes but only a very mild diabetes and the endocrinologist said that the mild degree of diabetes she had could not account for her degree of fatigue. He carried out a full range of metabolic tests on her which all came back as negative. We then went through a horrible period where they insisted that all her symptoms where psychosomatic. They got a psychiatrist involved who just plucked theories from the air to account for why she was having these psychosomatic symptoms. Eventually, due to our insistence that she could not have had a psychosomatic illness at birth when she already presented with fatigue, they withdrew the psychosomatic diagnosis and diagnosed her with Chronic Fatigue Syndrome. She began treatment for her diabetes and she was consistently praised for her excellent management of it. In 2011 (age 17) she was diagnosed with hypothyroidism (Hashimoto's thyroiditis) and she began treatment with Levothyroxine. Her thyroid levels are now stable. Between 2009 - 2012 she was continuously accused by her paediatric diabetic consultant of having anorexia. This was such a ridiculous accusation to make when she eats such excessive amounts of food and always has done. It didn't matter how much me and my husband or my daughter told him about her insatiable appetite, he just wouldn't believe us and continuously made horrible accusations towards her about her having an eating disorder and having a desire to be slim. We told him that what he should be considering is why she's always eaten so much and yet remained as slim as she is. In 2012 she was transferred to the adult diabetic service and thankfully her diabetic consultant here has never accused her of having an eating disorder. In 2013 she was diagnosed with multiple skeletal abnormalities in both legs which accounted for the sore legs which she had reported and which doctors had previously told us were psychosomatic symptoms. She began to have another symptom in 2010 which has recently worsened considerably. This symptom is that after some meals or even snacks she immediately develops a rapid and thumping heartbeat (I've timed it at 109bpm) for a short time, accompanied by the most debilitating weakness and fatigue. This weakness and fatigue can last between 20 minutes to 2 hours. She sometimes has to go to bed for a couple of hours and she feels really, really weak and unwell. After a maximum of 2 hours the symptoms go and she returns to normal. Since these symptoms are an exaggerated version of the weakness and fatigue which she's felt all her life I am wondering whether this is a clue to what has caused her lifelong fatigue. We've kept a food diary and we can't see any correlation between the type of food she's eaten when she gets these symptoms. She can eat the same meal twice and one time get these symptoms and another time she doesn't get these symptoms. We bought a home testing kit for celiac disease yesterday and she tested negative for it. We have told her diabetic consultant about this symptom and he said he'd never heard of this symptom before and suggested it was due to glycemic fluctuations when she ate. We have closely monitored her glucose levels during these attacks and we can't see any evidence that this is the case. She has also periodically suffered from very bad nausea attacks throughout her life, increasingly over the last couple of years, and for the last 4 days she has been very unwell with frequent attacks of extremely bad nausea and feeling more weak than usual. She suffered one of these nausea attacks in 2009 when having investigations into her fatigue in hospital and the doctors said it was psychosomatic. This was horrible for our daughter because the nausea is really awful when she gets it. She has also occasionally over the last few years got a really bad pain in her stomach which lasts for about 10 minutes. She is currently in bed feeling very unwell with periodic nausea, feeling very weak and frequently experiencing the terrible weakness and fatigue after eating. She has not vomited and says that her bowel movements are normal. We are monitoring her diabetes closely and it is under control. She knows that she should see a doctor but she is too scared to see one because past experience tells her that they will say it is psychosomatic - and me and my husband are of the same opinion. My query to you is whether you think that the symptoms of weakness and fatigue sometimes after eating and the bouts of nausea which she suffers could be due to a gastroenterology disorder. Also, the lifelong symptom of constant hunger despite eating enormous amounts of food and always remaining very slim despite consuming such large amounts of food (I once calculated that she eats 4000 - 6000 calories per day) could also be due to a gastroenterology disorder. For your information I was diagnosed with multiple ulcers in my stomach and duodenum in 2001 (age 39). I tested negative for helicobacter pylori and zollinger-ellison syndrome.
Brief Answer: likely a case of very high BMR. Detailed Answer: Dear XXXXXXX hi ! i have gone through the whole case history. we as doctors do get stuck sometimes when we face difficult cases, out of text books, which we do not know how to explain. so at hand, there is no clear answer with me as to what is your daughter going through. but i want some more information from you . what are her recent serum insulin fasting levels, what are her electrolytes? basal and during fatigue? what are her thyroid balance levels? what are the cortisol levels? how are her menstrual cycles? please let me know these few things if possible so i can tell you , if i can as to what is happening with her. Regards!
Hello Dr XXXXXXX I'm attaching the test results which I have which are from November 2009 when she was diagnosed with diabetes - we are not routinely given copies of test results - these are just ones which I've requested copies of recently. She had some blood tests on 03/03/14 which were another synacthen test, thyroid function test, vitamin D and B12, LH and FSH, prolactin and estrodiol and she is due to have a glucose tolerance test with insulin and c-peptide measurements at 1 hour and 2 hours next Monday. We will get the results of these tests on 20/03/14 and I'll ask for copies of the results then. If you feel you need these results then I will contact you again once we have them. With regards to her thyroid levels she's been tested within the last year and we were told that her test results were normal - she takes 75mcg of Levothyroxine daily. Her periods are very infrequent - she only menstruates about 4 or 5 times a year. Is the SHBG result relevant to this? There is another thing which I'd like to ask you about. Last year on our holidays she forgot to pack her Novorapid or Lantus with her so whilst we were there for 6 days she didn't take any insulin. She didn't feel ill and when we got back home her blood glucose was 7.0 mmol/l and her ketones 0.1. She decided recently to stop taking insulin at all and see what happened. She took no insulin, either short term or long term, for 3 months and didn't feel ill at all. Her fasting glucose levels were no higher than 12 mmol/l and she never developed ketones. She began taking all her insulin again and has been for the last 2 months. However, over the last 4 or 5 days she has developed high blood glucose levels - they are routinely between 19 mmol/l and 28 mmol/l. She has doubled her Novorapid dose and is taking extra doses in between meals. She has increased her Lantus by another 2 units each night. Her ketones are still 0.1 most of the time - they once went up to 1.2. She feels very dehydrated and slightly more tired than usual. We've never been told what type of diabetes she has. Do you think she could be insulin resistant? Her insulin fasting levels in 2009 were in the normal range and the fact that she has not developed ketones over the last 5 days makes me wonder if that is the case? I hope you can suggest something based on the results I've sent you. XXXXX
Brief Answer: still the picture is not very clear. Detailed Answer: Dear XXXXXXX hi! sorry for my slow response. i took time to read and go through your daughter's file. all things seem to be normal. if you had told me that she is obese, i would have suggested the lab picture seems in favour of type 2 diabetes. but it seems to be a case of insulin receptor defect. there is no other hormonal issue. cortisol and synacthen test results are normal. she is euthyroid as well. can i request you to send me the fresh reports when ever you have them with you. another thing is can we try drugs like pioglitazones 15 mg /d or metformin 500 mg twice a day. they work in type 2 as insulin sensitizers. she is extremely tired cause she is not able to utilize her glucose for energy and so she is always hungry and is losing out all glucose in urine. kindly try these drugs along with insulin and let me know if they work for her. supplement her with vitamin D, vit b12 and calcium. Regards!
Hello Dr XXXXXXX Are you saying the lab picture seems in favour of type 2 diabetes because her serum insulin fasting levels are normal? Does this definitely exclude a type 1 diabetes diagnosis? Can you please answer this question as this is a question I have repeatedly asked since 2009 but no-one will answer - I know she obviously does not have type 2 as she is not overweight - but are you saying that her serum insulin fasting levels are similar to a patient with type 2? I attach another report from 2009 when she was tested for the KCNJ11 and ABCC8 genes to indicate that she has the SUR1 mutation. This report proved negative. Are there any other insulin receptor defects which she could be genetically tested for? I'll be able to get copies of her most recent reports on 20/03/14 - I don't know if I'll be able to still send them to you then or if this discussion will have closed by then. I'll ask her consultant on that date whether he will try her on metformin. XXXXXX
Brief Answer: picture is more of insulin resistance. Detailed Answer: Dear XXXXXXX HI!. you can always get back to me by putting a query directly on my name. now as to your daughter's report , they seem to be of insulin resistance because, insulin levels, c-peptide levels, are normal. GAD antibodies are negative , islet cell antibodies are negative. but still she has hyperglycemia. presently you must increase the dose of insulin to keep normal blood glucose levels . later you can post me her fresh reports. Regards!
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