Question Title: Dysautonomia in a child?

My 12-year-old daughter has cerebral palsy. She has had additional problems the last 20 months which have puzzled her doctors. These symptoms include, at various times and in various combinations:

Crying spells--sometimes pitiful, sometimes agitated, often sounding confused; nausea; vomiting; pallor; flushing of face and/or legs; purple hands after eating; glassy eyes; purple around eyes; dilated pupils, sometimes responding slowly to light; fatigue; quietness (normally very talkative); low-grade fever; slightly lower temperature; reduced muscle tone; sudden and profound drowsiness.

Seizures have been ruled out by 24-hour EEG (multiple day), but during hospitalization tachycardia with some sudden brief drops in heart rate (recorded by Holter monitor) and periods of low blood pressure were noted. A few checks of blood glucose ranged from 60's to 140's. However, her symptoms and the findings do not line up consistently. She is currently taking Robinul, Klonopin, and Baclofen for her cerebral palsy (EEG was done both with and without Klonopin).

Her local doctor thought she had acute confusional migraines (without headaches), but the neurologist who hospitalized her suspects the autonomic nervous system. Would you have any thoughts on her symptoms and any ideas on doctors/centers specializing in dysautonomia testing and treatment, specifically in children? I would also like to know if the crying spells would fit with dysautonomia. The crying spells started abruptly in a very even-tempered child exactly two weeks before the onset of the other symptoms. Any thoughts on standard treament choices in children would be great, too.

Thank you kindly.

A few other options should be considered in addition to the diagnosis of cerebral palsy. One possibility is that she may have a metabolic disorder, such as a mitochondrial encephalopathy , these genertic disordes can manifest with both cardiac abnormailities, abnormalities of muscle tone and neurological problems. This group of inherited diesasew has only been recognized relatively recently and frequently tie together puzzling constellations of symptoms as you describe.
I would suggest that you seek an evaluation in a large university pedicatic neurology clinic , where you will be most likely to find some one with this sort of expertise. Yopu do not mention what part of the country you live in, the number of these specialists is relatively rare so you may need to travel. Our own expert in this area is Dr Bruce Cohen, ( 216 ) 444 5559 who deals with many of these cases, if you are prepared to travel to the Cleveland area.

Thank you for your reply. She has tested negative for mitochondrial disease (spinal tap, blood work, exam of eyes, MRI), and her cp has been explained by premature birth and intraventricular bleeding.

I would certainly appreciate any other ideas you might have on her situation.

We are in the midwest, but would be willing to travel most anywhere to find diagnosis and treatment for her. These new problems have changed the quality of her life, which was already pretty tough because of her substantial physical disabilities.

Dear Julia:

CP by definition is a static disease, meaning that it doesn't progress (there are rare conditions that we attribute to CP that have a progression, but likely it is our ignorance more than the disease). CP usually had an etiology, and from what you are telling me, it was likely the result of her prematurity and IVH. But you didn't tell me about her cognitive ability, how delayed is your daughter. Is there a family history of seizures or migraine. Things that tend to be repeative are usually one of these entities. There is the occasional metabolic disorder that can be cyclic but this is more uncommon. How regular are her spells? Is there any thing consistent with what events lead up to an event? There are a couple of mimics to seizures such as breath holding spells which can look like what you describe, but these are usually associated with something that aggreviates the child. Let me know about these questions and I will get back to you. Just for an information point, many mitochondrial diseases will give one normal labs and it is only when the child is stressed do we see abnormal blood and urine amino acids or organic acids. We see alot of mitochondrial diseases and from experience I can tell you there are many children who have normal initial labs that turn out to have mitochondrial disease. But, from what I am hearing, this would seem rather remote in my judgement.

Sincerely,

CCF Neuro[P] MD

My daughter's IQ is in the  average  range. She is above average in verbal skills and has a great sense of humor. Her physical abilities are very limited--she does not walk, stand, or sit without support, and hasn't much use of her hands. Her cp is considered both spastic and dystonic. BTW, she has an identical twin who also has cp, slightly less  involved , and is considered academically  gifted .

There is a family history of migraine but not of seizures. Several meds were tried when acute confusional migraine was the working diagnosis--daily aspirin, Elavil, Paxil, and Periactin--without any improvement. Would the low blood pressure and tachycardia fit with migraines? These were noted both during episodes and when she felt fine. She never complains of a headache.

Her spells are not regular. She may have one every day for a couple of weeks, then go for weeks without one. During one stretch of spells, they came between 2:30 and 3 p.m. every day. During another run, they were usually just before dinner, and I wondered about blood glucose. Then she went through a phase of waking with pallor and very low muscle tone, unable to stay fully awake for the first few hours of the day. Other times, there is no pattern in the time of day. When she feels a spell coming on, she often asks if she looks pale. Other times she just starts crying pitifully and sounds confused.

An episode can be as limited as a few minutes of pallor or purple hands or as long and involved as several hours of low tone, drowsiness, inconsolable crying, vomiting, glassy eyes, and pallor. The only activity that I've noticed precede spells a number of times is physical therapy--both range of motion (lying down) and warm-water pool therapy; often, though, she is fine after PT, and often she is  sick  when she hasn't had it, so I'm not sure if it is significant.

Thanks again for your help.

Dear Julia:

Although from what your describe, it might be considered as atypical migraine or complicated migraine: Family history is positive for migraine, and cyclic nature of what your describing. But, the usualy things that we do for migraines such as periactin treatment had no effect. So I am less inclined to believe that this is complex or atypical migraine at present. I think I would push the epilepsy tract. What you may need is a video EEG monitoring session. Your epileptologist will need to see these events while your daughter is hooked up to EEG leads. If I had to bet (I am not a betting person) I would tend to think that if we could capture one of these events, we would have our diagnosis.

From what you have told me, I am less and less inclined to believe that this is mitochondrial. Usually if we see such systemic involvement, there is a intellectual component with these disorders (not always, but usually).

I hope that this helps you.

Sincerely,

CCF Neuro[P] MD

She had in-patient 24-hour video EEG for 11 days straight, during which she had a number of  events , but no epileptiforms were seen on EEG. I'm assuming if the spells are seizures, we would have gotten some kind of proof of that in 11 days.

Thanks again for your thoughts.

Dear Julia:

Yes, most of the time when epilepsy is present, the video EEG is positive. So, this is why I am not a betting person. I am not too convinced that these are complex migraines either. Hereditary motor sensory neuropathy type IV can give you dysautonomia, but these children are mentally retarded. If mitochondrial disease was present, the EEG will often show slowing during an event and since the EEG was normal this is not the case.

I am sorry that I am striking out. What we need some times is a tincture of time. Some disease processess will declare themselves with cardinal symptoms after a period of time, while early on they are an engima. I hope this is not the case with your daughter and what is going on resolves on its own and we are only left with puzzlement. Please keep us informed, for my learning. Sorry for my ignorance.

Sincerely,

CCF Neuro[P] MD

One thing all of her doctors agree on is that they are puzzled!

Thanks for your efforts. I will try to update you if we learn more.

Dear Julia:

Please keep us informed, the patient is the best teacher and I would like to learn. Thanks again, and we'll keep you in our thoughts and prayers that this is something benign.

Sincerely,

CCF Neuro MD