Posted By Julia on July 06, 1999 at 09:06:01
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.
Posted By CCF Neuro MD MM on July 07, 1999 at 11:08:54
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.
Posted By Julia on July 07, 1999 at 13:52:22
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.
Posted By CCF Neuro[P] MD, RPS on July 07, 1999 at 18:22:53
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.
CCF Neuro[P] MD
Posted By Julia on July 07, 1999 at 22:39:06
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.
Re: Dysautonomia in a child? CCF Neuro[P] MD, RPS 7/08/1999
Dysautonomia in a child? Julia 7/09/1999
Re: Dysautonomia in a child? CCF Neuro[P] MD, RPS 7/09/1999
Dysautonomia in a child? Julia 7/11/1999
Re: Dysautonomia in a child? CCF Neuro[P] MD, RPS 7/11/1999
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