Re: What should I press for next?
Re: What should I press for next?
Posted by ccf neuro M.D.* on November 07, 1997 at 23:43:26:
In Reply to: What should I press for next? posted by Kathryn C. Corley on October 12, 1997 at 21:22:21:
My son, Alex, is now approaching 11 months old. Looking at him, he seems small, but very normal - doing all the things a normal 11 mo. old does. He smiled very early and is very social and cuddly. He loves to play pattycake and peekaboo. He is cruising around the furniture, and nearly standing on his own. He is climbing on everything in his path! He laughs when his sister dances, and gives big, open-mouthed, wet, baby kisses. My pregnancy was essentially normal (I was a little anemic), as were my labor and delivery (there was VERY slight meconium staining, and Alex was suctioned and on O2 for a short time, just as a precaution--his APGARS were 8 and 9, and he cried spontaneously.) He was 8 lbs, 5 oz, at birth and 19 inches long. However, he has had problems from early on. We were not able to establish breast feeding, even with a valient effort. (I was disappointed but not too concerned, I hadn't been able to breast feed my older child.) At around 1 mo., I became mildly concerned about the length of time spent feeding him (about 45 for 2 -4 oz), and about his slightly low volume intake (average 20 oz per day). Pediatrician assured me that he was growing okay (though he had dropped significantly in percentile ranking, he was still on the chart). By 2 mo., no increase in volume per day, and now had fallen below the 5% ranking in weight, but was hanging at the 5% for height. (His head circumference has remained at the 25% throughout all of this, to date.) Within days, Alex was losing weight. During this time, Alex went through several formula changes due to suspected intolerances, he had chronic diarrhea, and projectile vomiting. The testing and referrals began. Repeat Neonatal screening due to hemoglobin variant
Switched to Soy formula
Switched to Alimentum
Diarrhea and vomiting lessened, but not gone
Failure to thrive diagnosis
"Very mild hypospadias" noted in his chart
Barium swallow, GI series - normal, grade I reflux
Sweat Chloride - normal
Hemoglobinopathy - now normal, but recommend repeat testing
Referral to Speech Therapist for feeding therapy
hyperextension, scapular adduction, dysorganized, arrhythmic suck/swallow, sensory integration problems during feeding
Sandifer syndrome or neurological difficulty?
Referral for physical therapy for increased tone
Prescribed Tagamet
CT Scan - radiologist (who does not see many peds patients) says ventricular dilatation, diffusely prominent sulci and fissures, but later 2 pediatric neurologists and a pediatric neuroradiologist all say normal
C Spine Xray - torticollis, but normal other than that
B-12 - normal
Urine Metabolic Screen - normal
Referral to Neurologist - says if Alex is brain damaged, he will "eat (his) chart"
Referral to Early Intervention Program
Prescribed Polycose
Prescribed Propulsid At this point, Alex was five months old. He began experiencing trembling episodes that lasted less than 5 seconds in duration. He had three in a two month period. His neurologist felt that they were too short in duration and too oscillatory to be true myoclonic activity. He felt that they might be some sort of vagal response related to reflux. EEG - normal
ph Probe - normal
Repeat Sweat Chloride - normal When these tests seemed to lead nowhere, we visited a friend in Cincinnati who had completed her residency at Children's Hospital Medical Center. We saw a James Heubi, M.D. (ped gastroenterology), and Elizabeth Schorry, M.D. (genetics), as well as another speech and language pathologist. Chromosome testing - normal
Chem 7/renal panel - normal
Video swallow study - normal reflexes, normal swallowing mechanism, some difficulty moving food posteriorly in his mouth, tongue retracted and compressed against the roof of his mouth - oral defensiveness More therapy. Super boosted his caloric intake with polycose and corn oil. Episodes continued - 5 more in the next three month period. One day he was holding his mouth in a strange position with his tongue out. The next day, it persisted. A speech and language pathologist observed him and noted a tremor in his tongue. MRI - normal Three days after the results of the MRI were back, Alex had a very scary seizure. He had been fussy. When I picked him up, he put his head down on my shoulder. I thought he was sleepy. I sat down. He looked up at me, then his eyes rolled back in his head (and off to the left). He began to jerk (not anything like the little trembling before, much more violent). He was having difficulty breathing - gurgling. He turned gray. I called 911. After he stopped jerking, he seemed to be smacking his lips. Then he was out. I watched his heart rate jump all over the place in the ambulance.
When we got to the ER, he was still really sleepy, but he began to come around. The ER doc discussed the case with our pediatrician, who in turn called the neurologist following Alex. They decided to place him on phenobarbital (15mg twice daily). We were scheduled to follow up with This all occurred on September 29th. Since then there have been three more of the trembling episodes. One was so short, I am not sure if I imagined it or not. One was at his early intervention program - only his left arm was trembling. The last one was at home - just his head was trembling.
One of the episodes was prior to reaching therapeutic range for the pheno. The other two were after reaching therapeutic range. I have reported the episodes to the pediatrician, and they made a note in his chart. I am terrified for my child. I don't know what to press for next. No further testing was done after the big seizure. I don't know if I should press for another EEG. When the MRI was done, they did not finish the series with contrast because he woke from sedation. Should I ask to have the MRI redone? We have no explanation for any of this. Our pediatrician seems to think that many of Alex's symptoms are unrelated, but that seems to be such a coincidence. I keep feeling that there has to be an underlying cause for all of this, maybe some neurometabolic disorder. His stools have always been unusual looking. I have been told that there are not any symptoms to indicate the need for further metabolic testing. There must be an answer. I feel like Alex is getting worse. I am scared. Please, if you can think of anything I haven't requested or done for my son that I should request or do, please e:mail me or call me. I am desparate. Our follow up with the neurologist is schedule for October 20th
------------------------------------------------------------------------------------------------------------------
Shuddering attacks are episodes of trembling that affect young children that are of nonseizure origin and are in and of themselves benign. Sandifer's syndrome is torticollis (abnormal spasm of the neck) in association with esophogeal refux from a hiatal hernia, which is an abnormal displacement of the stomach from the abdomen up into the chest. If your pediatrician agrees with your assessment that your son is indeed developing normally, this is reassuring to some degree, as most serious metabolic or neurologic disturbances cause an arrest or even regression of development. A family history of seizures or metabolic problems or serious neurologic illness at a young age would increase the risk of epilepsy or a serious disorder substantially. Phenobarbitol is the drug of choice to treat many types of infant seizures. If your son is felt to have a specific type of feeding problem (i.e. is intolerant of certain foods more than others) or is felt to have malabsorption, this might provide a clue to a possible underlying disorder. If your son's apparent generalized seizure occurred while he had a fever, this is less concerning than if it happened with no apparent trigger, since the risk of recurrence is quite low in the first instance and much higher in the second instance. Contrast given with an MRI MAY detect very small tumors that do not otherwise show up without it, but if it is a cause for seizures that one is worried about, there is a special protocol that is designed to detect very subtle, almost microscopic level abnormalities and abnormalities in the way the brain cells formed and migrated during fetal life that is better. Any major medical center should have the software necessary to do such an MRI. If there continues to be diagnostic confusion about your son's spells, there is a thing called video-EEG monitoring where the child stays in a special monitoring unit that tapes both his behavior and his brain waves for a period of days, during which hopefully some spells are captured and analyzed.
If you are near the Cleveland area and/or wish to seek a second opinion on your son's case, the Cleveland Clinic does have arguably the foremost child epileptologist (seizure doctor) in the world, Dr. Elaine Wyllie. I can virtually guarantee you that she could figure out a case like his!!! The number to call is 1-800-223-2273 and ask for Pediatric EPILEPSY appointments. If Cleveland is not practical for you, I would suggest the nearest LARGE teaching medical center/Children's hospital with an epilepsy section or monitoring unit program within their child neurology department.
Good Luck. I hope this gives you a few ideas. Please remember that information we provide on the forum is intended for informational purposes only, and that actual diagnosis and treatment of your son's condition should be strictly in conjunction with his treating physician(s).
|
|
