3yr old with SEGMENTAL NF1 and leg pain

[tiggy]

My son has been diagnosed with segmental NF1 since he was a baby. He has numerous cafe a lait macules on his right leg and hip spreading onto his spine but not crossing it and not going as high as his ribs. He is now 3yrs old and complains of pains in his legs. It seems to come and go, sometimes he seems to walk quite normally, but on other occasions he walks with a distinct limp. His gait is frequently odd looking, he struggles to climb stairs, cannot pedal a bike and doesn't really run. Sometimes he moves pretty fast but it's more a very quick waddle! Some days he will walk a reasonable distance but at other times he won't even walk to the car! He frequently wakes during the night with leg pains, and will sometimes stop playing and start crying in pain. Because he's so young, it's been hard to get him to tell us where the pain is without leading him, but he seems to say pretty consistently that it's his legs. He's been seen by a podiatrist, who said he had flat feet and a hypermobile hip but didn't know if the NF could be implicated. Supports in his shoes and physio have definitely helped, but there are days when he still really struggles.
Thing is, everyone says that segmental NF1 doesn't cause any systemic problems. COULD it be the cause of his pain? He has just had an MRI done of his lumbar and sacral spine but we don't have the results yet.

[Orangecera]

I am curious to know what medical professionals you have consulted to try to diagnose the source of his complaints. If the only person he has seen is a podiatrist, I strongly recommend you get an appointment with a pediatric orthopedic specialist who is experienced with NF. While it is not a sure thing the NF is linked to his complaints I think it definitely should be investigated. I am sorry your sweet young boy is having these pains. I am sure it is frustrating for both of you!
I am also thinking that AFTER a visit to the Orthopedic specialist, you might want to consult a physical therapist as well to see if there are some things they can work with on his coordination and core strength.

[joann_simon]

Hi,
Reading what you wrote was like reading about my own son. Patrick is 2 1/2 and was recently diagnosed with NF 1. He experiences the same leg pain you described. He also has trouble with the gross motor skills- climbing stairs, pedaling a bike, jumpping, etc. He only complains about his left leg and it is completely sporadic. Sometimes it happens during the night, as you said about your son, sometimes it's during the day, sometimes it lasts for minutes, sometimes for hours. There are times Patrick can't walk at all and will actually get around to play by crawling. It seems to have gotten worse and more often, he seems to walk with a limp quite often, even when he's not complaining. Before we found out about his diagnosis, Patrick saw orthopedics and rheumatology, neither could come up with a reasonable answer for the pain or what was causing it. Since the diagnosis, we've been back to the neurologist about the leg pain and she sent Patrick for the same MRI your son had on the lumbar and sacral spine. We will get our results tomorrow. I'm not sure what segmental NF is, but from what I understand, the neurologist is concerned that if there are tumors growing on or around(?) Patrick's spine, that they could be compressing a nerve, causing the pain in his leg.
I am intersted to find out what happens with your little guy, as I am afraid to find out about my own tomorrow. This diagnosis has turned my world upside down. Patrick hasn't even been seen by the Neurofibromatosis specialist yet, so I'm not ready to find out about any complications that are being caused by this NF. Please keep me updated. I feel like we are in very similar situations and I will be wishing and praying for the best for both of our boys. I hope to hear back from you with good news.
Joann