4-year-old with symptoms of neuropathy
 

Hello all, please advise.

My 4-year-old daughter has been complaining of intermittent foot pain for about 2 years. At first, it only occurred immediately following a BM and we believed it was due to the fact that she squats on the toilet seat and literally wraps her toes around the edge of the seat. We thought it was causing cramps. It usually only occurs in 1 foot at a time, but sometimes both together. I took her to her doctor at the time and he was not able to find anything wrong. The complaints of pain were not every day and each episode lasted between 1-3 minutes and resolved with massage. Maybe a year later, she started having the pain at more random times, not associated with going to the bathroom. I took her back to the doctor and we decided we would just keep an eye on it, but because the episodes passed so quickly, it did not seem serious.

About a month ago, she woke up a few times complaining that her hand hurt. Because of the timing, I asked if her hand was cramping like her feet or if it felt like pins and needles (assuming she slept on it wrong). At this point, she informed me that both her hands AND the foot pain feels like “pins and needles,” and apparently, she had always described it as “cramping” because that’s what we all had been calling it. I took her back to doctor who ran the usual labs, all of which came back normal. Then, he sent us to a pediatric neurologist.

The pediatric neurologist assessed her and said her physical exam was normal. She ordered a ton of labs checking for vitamin and mineral deficiencies. Something to note: we follow a vegan diet and supplement with B12 (methylcobalamin) and my daughter was taking a childrenÂ’s multi at the time approx 5 days a week that contained 2.5mg of B6.

The labs all came back normal EXCEPT B6 was at toxic levels - 79! The reference range she gave me for her age was 2-32. Additionally, she noted that B12 was in the normal range, but on the lower end of it. She told me to stop the multi and cut back on the B6 in her diet as “it MUST be dietary.” Well, if you’re not already aware, a vegan diet does not contain massive amounts of B6. We do not consume very many processed foods so she is not eating fortified stuff often. We eat mostly fresh fruits and vegetables, whole grains, rice and beans. Not to mention, the quantity of food a four-year-old would have to consume to reach toxic levels of B6 from diet alone would be completely unrealistic. From my understanding, the vast majority of people don’t even develop toxicity until they are consuming over 1,000mg/day. Even when my daughter was taking her multi, she was getting, on average, less than 5mg/day.

Another important note: My mother-in-law is homozygous for MTHFR gene mutation as is my husband and I am heterozygous. I only just found this out as I allowed my mother-in-law to submit my genetic info to a company that creates these reports when I became concerned for my daughter. I have tried to reach the neuro doc to no avail, but I was able to contact her pediatrician and request referral to a geneticist - but, is that who we need to see? My mother in law thinks they will blow it off because they will not be familiar with the MTHFR stuff. Also, if this elevated B6 is related to MTHFR mutation, are her symptoms actually caused by a deficiency of B6 being masked by a toxicity because her cells are not able to actually use the B6 in her blood? How will we ever get the B6 levels down if she is already consuming such a small amount? Do people with the MTHFR mutations always have elevated levels and, if so, does it always cause symptoms?

I am frustrated with the neuro doc because I feel like she heard we have a different diet and assumed she could attribute any abnormalities to that, but it just doesnÂ’t make sense. My daughterÂ’s pediatrician agreed as well. ThereÂ’s no reason to believe sheÂ’s been consuming massive amounts of B6. Something else has to be happening. The neuro doc also told me her symptoms could be irreversible and even progressive. That really scares me.

What do you believe could be happening here and who would be the best person to see to investigate further? Meanwhile, what is the best thing I can do to help my daughter?

Hi,
Try our site search for MTHFR.. There are many posts mentioning it , so you should find who to see ..
https://www.neurotalk.org/search.php

An expert naturopath might be worth considering also..

Hi RunCM

Welcome to NeuroTalk :).

Adding to what Jo*mar suggested, you could also talk with a dietitian who has experience of working with clients who have a vegan diet.

S/he could come up with good ideas which will help your daughter to keep her Vitamin B6 levels within the healthy range.

All the best.

And--
 

--you might want to consult a geneticist who is familiar with hereditary neuropathies, some of which can present quite early. This may involve at least an email communication with a major neuropathy center such as Johns Hopkins or Washington University Neuromuscular. (The B6 may actually have very little to do with this; other possibilities need to be explored.)

Hello,
No new updates yet. I do have a follow-up question. Could the lab have been wrong? I would assume that was the case except for the fact that there are symptoms. However, if neuropathy was caused by a B6 toxicity or deficiency, would it be so intermittent? It lasts, on average, only 1 to 3 minutes. And, rarely more than once a day. Many days, there are no complaints at all. Is that typical?

The standard reference range for B6 in adults is 5-50 µg/L so the reference range that you were given for your daughter (2-32 µg/L) makes sense.

However, the lab may have made a mistake. You could ask them to rerun the assay on the sample they already have and/or arrange for a fresh sample from your daughter for them to run the assay on.