Wednesday, August 18, 2010

Our Latest Adventure: Mystery Diagnosis

My youngest son, S., has had low muscle tone since he was an infant, maybe from birth. We recently were able to get a physical therapy evaluation for him and he is over 2 years behind. After waiting 3 months, we had an appointment with a neurologist to see if we could figure this out, once and for all. He does not seem to be on the autistic spectrum, like my older son J., but he has had his own share of challenges. We seemed to have reached a crisis point last week.

For about 7 to 10 days S. would complain that his tummy hurt every time he ate. He was eating only about half of what he normally does but still active and playing. At first I thought it was just because he didn't like what I served and was making an excuse. Then I thought, maybe he's not growing as fast, not as hungry, whatever. Didn't think too much of it. Last Thursday he starting complaining that his tummy hurt hours after he had eaten. That evening he was laying on the couch more, less active. I happened to make something that wasn't a particular favorite for dinner, cheese enchiladas. I purposely made them with mostly tomato powder instead of chili powder so they wouldn't be too spicy. He barely touched them. I suggested he go to bed a little early and rest so his tummy would feel better. I remember that he got some water to drink, so he was at least taking some fluids. I decided that I would call the pediatrician the next morning unless he was miraculously better.

In the morning he crawled into bed with me and went back to sleep. He seemed to be breathing faster than normal, but I wasn't too concerned yet. It was unusual for him to fall asleep with me in the morning so I kind of made a mental note of it. His brother came in after maybe an hour and kind of jumped all over him for being in the spot he likes, so he woke up. I yelled at J. "He was sleeping!" We all got up and S. went to play games on the computer, so again, I was thinking he's not too bad. Still I called and made an appointment for him because the belly pain had been going on long enough. I had told S. that I would take him to the doctor in the morning before I put him to bed on Thursday, so he asked if I would please take him to the doctor and then make him some breakfast. After a while he came back and asked where his oatmeal was so I made some for him. He ate just a few bites and came to lie down on the couch. I had already made the appointment for 11:30. Around 10:45 he started crying from the pain. He was complaining of both abdominal pain and also pain in both knees and one elbow. I called my mother and asked if I could drop off J. with her so I wouldn't have to bring him along too. I hurriedly got the boys ready and headed out. J. kept trying to talk to S. to make him feel better, but S. just wanted him to be quiet in the car, and was getting irritated.

I dropped of J. quickly and we headed to the pediatrician. S. pretty much cried through the entire appointment. The doctor examined him and I explained what was going on. I also discussed with her that S. had been having knee pain at night for quite some time, about every two weeks for the last year and a half he would wake up and complain of one or both knees, shins, or ankles hurting. We assumed it was growing pains but we were a little concerned. Every time I would be ready to call the pediatrician, the pain would seem to go away for a while so this was the first time I brought it up. I asked if she could do a Lyme titer on S., just to be safe, and she said she would write an order for it. She did a urine dip, a strep culture (his throat was slightly red), and a blood count in the office. I thought he was going to vomit after the fingerstick, but he never did. His urine had a large amount of ketones but no glucose. The strep culture was negative, and she said the white count was slightly elevated but not alarmingly so (12.8 k/uL). She instructed us to go to the Emergency Room at the nearest Children's Hospital, because she wanted to rule out anything serious, like appendicitis, and because of the amount of distress S. was in from the pain.

I called my mother to let her know what was going on, and started driving S. to the ER. Called my husband and a friend also. S. fell asleep quickly and stayed asleep for the rest of the ride there. I kept eying him nervously in the mirror, checking if he was ok. We were lucky enough to find a spot in the tiny ER parking lot, and to find an empty waiting room. We came on the right shift, daytime during the week is usually fairly slow. I explained what was going on to the triage nurse, and that the pediatrician had called. She faxed over a report to them also. They put us right into a room.

S. was seen quickly by both the emergency doctors and pediatric surgery. An IV was started and blood drawn. An abdominal x ray and ultrasound were ordered, and an IV fluid bolus given. We got the first lab values back quickly. His blood count was completely normal, with a couple high and low values in the differential that did not seem to be significant. (neutrophils 77%, lymphocytes 18%) His blood sugar was 65, so he was given a bolus to bring it up. BUN and creatinine were normal, BUN/creatinine ratio 26 (rr 10.0 -20.0). However, his bicarbonate level was only 11.6 (22.0-30.0 mmol/L) and he had a high anion gap of 21 (rr 7 - 16). I think it was at this point that doctors started questioning me about whether S. could have ingested aspirin or other medications. We don't keep aspirin in the house, and the other medication he asked about, isoniazid, I wasn't familiar with and we certainly didn't have it in the house. Sodium and chloride were normal. Liver function tests were all normal, bilirubin, ALT, AST, alkaline phosphatase, lipase, etc. S. was complaining that he didn't like the toy he got, in between crying about his pain. So ungrateful. LOL

We went for the abdominal x-ray and ultrasound. It was extremely difficult to get the ultrasound. The technician was able to rule out intussuseption but she had a very difficult time finding his appendix. He was in pain and crying so he wasn't being very cooperative. The technicians utterly spoiled S., bribing him with toys and stickers if he would just hold still. Three people tried to visualize his appendix, including a doctor but they weren't able to. They did, however, state that there was no secondary signs of appendicitis such as free fluid or local fluid collection.

More labwork was drawn from my son's IV, after we returned from diagnostic imaging. Lactic acid was 1.8, so that wasn't the reason for the high anion gap. Sedimentation rate was 2 (0-20mm). Creatinine kinase and c-reactive protein were hemolyzed, so no values back for those. Rheumatoid factor, an ANA screen, and Lyme titers were sent but we are still waiting for those. S. had a blood pH of 7.21, which was very frightening. Potassium came back at 7.5, but I'm pretty sure that was hemolyzed because other samples drawn at the same time came back hemolyzed. At this point a toxicology screen was sent, specifically for substances that can cause the high anion gap. The only substance detected was acetone, and I was questioned about whether S. could have swallowed paint thinner, but apparently ketones can also cause a tox screen to come back positive for acetone. I didn't figure that out until later on though. I questioned S. about whether he had "drank anything yucky" but he said that he "only drank water."

Another blood glucose came back low (58) so S. was given another bolus to bring it back up. BUN and creatinine still normal, with a BUN creatinine ratio of 30 (rr 10 - 10). Sodium, 129. Potassium, bicarbonate, and the anion gap came back hemolyzed. Calcium normal at 9.3.

S. was supposed to receive some morphine for his pain but surgery vetoed it until they came up to see him. Between their exam and the tests that were done, it was decided that the pain was unlikely to be due to a "surgical" problem. S. had been sleeping for a while after the ultrasound agony, but once he got a dose of morphine he actually sat up and played with the many toys the staff spoiled him with. We was wet so I got him some hospital garb and he was able to give a urine sample into a bottle. The UA came back with large ketones but no glucose. For some reason, they kept getting high blood pressures on my son. At first we thought maybe he was just moving too much and the machine wasn't getting an accurate reading, but they were consistently running in the 130's to 140's over 80's to 90's.

We went up to the pediatric floor for S. to be admitted around 7 pm. By then he was looking and feeling much better, though he still had some abdominal tenderness. S. was entertaining himself with the TV and the bed controls. He pestered the nurses for toys, thinking he was going to be showered with more things. Umm, no, you get one when you go home but for now we can get you toys from the playroom. My mother and J. came to visit. S. was still in some pain, but quietly watching TV. His daddy came up after Grandma and J. left. S. was NPO but I hadn't eaten since breakfast and dh was hungry too so he brought food. I was going to sneak out but dh didn't know S. was NPO so he let him see it before I could stop him. S. was pretty good about it though, he only made us feel a little guilty.

The nurse said more labwork was going to be sent but the doctors took forever to decide what they wanted drawn. At 11 pm I told her he was still awake if they wanted to get it before he went to sleep (please!) but they didn't draw it until 11:30 or so. He slept through most of it but woke up and cried when I tried to reposition his head on the pillow afterward. It figures. He went back to sleep quickly though. Glucose was 72, BUN, creatinine, BUN/creatinine ratio all normal. Sodium 134, bicarbonate 13.1, ammonia 38 (rr 11-35umol/L). Creatinine kinase 164 (rr 24- 195 U/L), c-reactive protein 0.2. S.' blood pressure returned to around 100/60.

The next morning S. was allowed some clear liquids and to eat if he tolerated them, which he did. I ordered him some french toast and he ate half a slice and complained that his tummy hurt. At lunch he had 1/2 a very small chicken tender and a little fruit, then complained of pain. He drank some juice but not much. He still had IV fluid running. Labs were drawn again after lunch. Glucose was 137 but he had fluid running with dextrose, so probably normal. BUN, creatinine, etc, sodium, chloride all normal. Potassium hemolyzed. Bicarbonate was 18.1, anion gap 15, so improving. His pediatrician came up and examined him. He wanted us to stay another night because what happened on Friday was pretty concerning and he wanted to monitor him a little longer.

S. was able to spend some time in the playroom after lunch, as he was getting pretty antsy. At dinnertime, S. couldn't bear the thought of eating the french toast that he insisted he wanted. I think he ate fruit but I can't remember. My mom and J. came up and the boys played in the playroom some more. I think I tried again to get S. to eat some dinner after that, but his "tummy hurt." When the staff game and offered snacks a little while later, Teddy Grahams and popcorn didn't hurt his stomach as much, for some reason. Interesting. I think this is the reason I didn't take the belly pain too seriously until it slowed him down.

We had a good night's sleep and on Sunday morning S. was eating better. Again with the "I can't possibly eat the french toast but the donut is fine." He ate a fair amount of fruit too. Still skittish about drinking. The IV fluids were turned off. The pediatrician came and found Sam up and playing in the playroom. Not much abdominal tenderness. I told him how S. was eating, and how he cleverly manipulated me about what he would eat. S. was discharged shortly afterward, we all had a nice meal at Grandma's and no complaints about the tummy. He ate fairly well at dinner too, although again, skittish about drinking.

We had some labwork pending at discharge, and hopefully it will be back by the end of this week. Lots of specialty stuff. Acylcarnitine profile, methylmalonic acid, urine organic acids, Lyme titers, immunoglobulin A, Rh factor, and ANA. Sam had an MRI of his brain on Monday that the neurologist scheduled 3 weeks ago. No one told the anesthesiologist so when I got there, there was a delay while she looked at his records and paged the neurologist (who didn't answer, because she is on vacation, of course.) She also didn't tell the staff about the bloodwork she wanted drawn while he was sedated, so they weren't too happy when I presented the lab slips. However, the nurses were really nice and scrambled to find the correct tubes while the MRI was being done. That procedure was easy on S., who acted like nothing happened, afterward, but rough on me. It's an awful feeling to watch your child pass out while someone holds a mask to his face, and then for them to show you the waiting room.

We had a follow up appointment with the pediatrician on Tuesday. Most of the labwork was still not back but the basic metabolic profile was, and it looked almost perfect. BUN and creatinine still normal, but BUN/creatinine ratio was now 27.5 (rr 10.0 to 20.0). I have no idea if that is significant. Creatinine kinase was now high at 350. I don't know why it was normal when he was in the hospital, unless the IV fluid for 8 hours before they got a non-hemolyzed sample had anything to do with it. The MRI report was back and the pediatrician went over it. A "mega cisterna magna" was noted, but did not appear to be a significant finding. The report said the brain MRI was unremarkable, except for prominent adenoids and fluid in both middle ear cavities. Postcontrast enhancement showed chronic granulation tissue, so I guess it has been more chronic than I realized. I know S. has not been hearing as well lately, but we did have a long stretch where he seemed to be much improved in that regard. Pediatrician said to wait for more labwork to be back before we start planning what to do about the adenoids and his ears. I'm not a fan of surgically removing symptoms or poking tubes into them, but he does need to hear and breathing through his nose would be nice too.

I'm a little frustrated because the pediatrician told me on the phone the day before that he felt the metabolic acidosis was caused by dehydration. That doesn't make any sense to me. S. had lost absolutely no weight from 3 weeks prior to his illness. Also, he was drooling profusely on the exam table when we arrived in the ER. He does that when he cries. If he was so dehydrated, why didn't he lose any weight, and why was he drooling so much? I don't understand by what mechanism dehydration alone can cause a child without an elevated blood sugar to produce so much ketones that his pH is 7.21. Doesn't make a bit of sense to me, there has to be another reason.

The neurologist is still on vacation and her resident apparently doesn't want to call me back until all the results are in so I'm not getting their take on the MRI, just the pediatrician's reading of it. It's sort of annoying because genetic labwork was drawn, and that will probably take a month. They are checking for Fragile X, getting a karyotype, microassay, and aldolase chromosomes, whatever that is. The pediatrician had given me a slip for a follow up basic metabolic profile, a celiac panel, and h. pylori antibodies. Just in case there was another cause for the abdominal pain. I just hope after all this, we can just figure out what is going on.

As of today, Wednesday, S. is eating and drinking normally with no complaints of belly pain. Playing and fighting with his brother. I think he is well, but I'm anxious about whether he will stay that way or not.

I know I threw a ton of detail into this, but hoping if anyone has ideas about what is going on, they will share them.

Update: Friday, 8/20: The tissue transglutaminase IgA level from the celiac panel was 48, so it is likely that S. has celiac disease. Normal is less than 20, borderline would be 20-30. That may have been the cause of the pain with eating, though it wouldn't be likely to cause metabolic acidosis. We will have him seen by a gastroenterologist.


  1. Sounds like when I had spastic colon when I was about 20. Every time I ate, the exit to my stomach would supposedly spasm. After a while I just didn't want to eat anymore. Poor bug. Do you have anymore information??? I don't remember having knee and leg pain, but that could be unrelated. Not sure. Hope you get some answers.

  2. There is a little update blurb at the bottom here but I didn't update again after the biopsy. S. has celiac disease. He is doing much better on a gluten (and now dairy) free diet. He still has the leg and knee pain every 2 weeks though, we haven't figured out why. He sees a neurologist for his low muscle tone and she is leaning toward working him up for mitochondrial dysfunction.

    Also, we feel, as does the dietitian, that the metabolic acidosis was caused by starvation secondary to malabsorption coupled with reduced intake. The neurologist concurs with this theory. There was a ton of labwork sent off to look for another cause and it all came back negative. So did the genetic stuff.