Aa
tuberous sclerosis
2 years ago my 6 year old daughter had what was agreed by ped and neuro to be a nocturnal Seizure. She had an ear infection at the time. Three days later she had another sleep disturbance. This has continued since, approx. 3-6 times a month. In response to the first she had a sleep deprived eeg which was normal, then a 3 day veeg during which no events hapened. She then had an overnight sleep study which was uneventful. We were told this was probably some type of parasomnia and not to worry. We felt we had done all that could be done and were content with the diagnosis. A brief description of her episdoes:
wakes 90 minutes after falling asleep, gets up walks around while doing elaborate arm movements, picking at clothes, rubbing mouth and bringing hands repeatedly up in air then covering mouth. She will respond to questions during these events. She will say something is wrong, very fearful, rapid hearbeat, dilated pupils, says that things look wrong are "too small". These episodes last 3 mins. or so. At the end we always hear loud stomach rumbling and then she farts (lol). They end suddenly as if someone flicked a switch. She then will very vigoursly rub her nose and chin for a minute or so, has no memory of the event and will either go back to sleep or sit with us for a few minutes but is extremely tired. Each episode is virtually identical.
Our ped. recently switched and the new one is recommending we return to the nuero as she thinks it is odd that these are still happening 2 years later and that our daughter responds to us during these episodes. The nuero does not feel it is necessary to see her again. Obviouslly I have read considerable amount about Seizures v. sleep disorders these past few years. Recently I came across a reference to tuberous sclerosis. Some identifying charecteristics seem to fit my daughter. She has 2-4 hypopigmented spots (that we can see, she is very fair) and dental enamel defects in her primary teeth that have been present since they erupted.
I guess my question is should I insist the neuro re-evaluate her, get a second opinion from a new neuro, or be content with the original diagnosis and hope she will outgrow this? Am I completely out on a limb about the TS? I would appreciate a little perspective as its hard with your own child to be unbiased and we do not want to have unneccessary tests performed or worry her (we do not discuss these incidentswith her since she has no memory of them) Our daughter is in other respects healthy (aside from a congenital pilonidal cyst/sinus) and in the gifted program at school.
wakes 90 minutes after falling asleep, gets up walks around while doing elaborate arm movements, picking at clothes, rubbing mouth and bringing hands repeatedly up in air then covering mouth. She will respond to questions during these events. She will say something is wrong, very fearful, rapid hearbeat, dilated pupils, says that things look wrong are "too small". These episodes last 3 mins. or so. At the end we always hear loud stomach rumbling and then she farts (lol). They end suddenly as if someone flicked a switch. She then will very vigoursly rub her nose and chin for a minute or so, has no memory of the event and will either go back to sleep or sit with us for a few minutes but is extremely tired. Each episode is virtually identical.
Our ped. recently switched and the new one is recommending we return to the nuero as she thinks it is odd that these are still happening 2 years later and that our daughter responds to us during these episodes. The nuero does not feel it is necessary to see her again. Obviouslly I have read considerable amount about Seizures v. sleep disorders these past few years. Recently I came across a reference to tuberous sclerosis. Some identifying charecteristics seem to fit my daughter. She has 2-4 hypopigmented spots (that we can see, she is very fair) and dental enamel defects in her primary teeth that have been present since they erupted.
I guess my question is should I insist the neuro re-evaluate her, get a second opinion from a new neuro, or be content with the original diagnosis and hope she will outgrow this? Am I completely out on a limb about the TS? I would appreciate a little perspective as its hard with your own child to be unbiased and we do not want to have unneccessary tests performed or worry her (we do not discuss these incidentswith her since she has no memory of them) Our daughter is in other respects healthy (aside from a congenital pilonidal cyst/sinus) and in the gifted program at school.
Update: Your responses prompted me to seek a second opinion. I took her to the cleveland clinic and after reviewing her previous records and our descriptions of her episodes the dr. felt they were most likely right temporal lobe seizures. She will have an mri and proably another veeg soon. Thank you for your comments.
Its sometimes difficult to distinguish between a parasomnia and a nocturnal seizure. Parasomnias such as night terrors or nightmares can occur at this age group. Seizures coming from the frontal lobe can also occur with similar symptoms to what you describe. The only sure way to diagnose which is to record them on video-EEG, one cannot 100% exclude one or the other without this.
TS has a set of criteria which allow the diagnose of defininte, probable or possible TS with major and minor criteria. 2 major or 1 major and 2 minor criteria must be met for a diagnosis. Major criteria include
Facial angiofibromas or forehead plaque
Non-traumatic ungual or periungual fibroma
Hypomelanotic macules (more than three)
Shagreen patch (connective tissue nevus)
Multiple retinal nodular hamartomas
Cortical tubera
Subependymal nodule
Subependymal giant cell astrocytoma
Cardiac rhabdomyoma, single or multiple
Lymphangiomyomatosis
Renal angiomyolipoma
Minor criteria include
Multiple randomly distributed pits in dental enamel
Hamartomatous rectal polypsc
Bone cysts
Cerebral white matter migration lines
Gingival fibromas
Non-renal hamartoma
Retinal achromic patch
"Confetti" skin lesions
Multiple renal cysts
If she truly has >3 hypopigmented spots on evaluation of her entire skin by a doctor under a Woods lamp, and dental pits as above she would meet the crtieria for 'probable' but not definite TS (one major and one minor criteria). This email is for educational purposes only and cannot substitiute for a formal medical opinion. More testing like a retinal examination, heart and kidney ultrasound scans might be warranted to look for signs of TS. Sometimes an examination of the parents can be useful to look for subtle signs of TS can be helpful as a percentage of cases are inherited from parents. Most cases are sporadic mutations (not inherited).
TS has a set of criteria which allow the diagnose of defininte, probable or possible TS with major and minor criteria. 2 major or 1 major and 2 minor criteria must be met for a diagnosis. Major criteria include
Facial angiofibromas or forehead plaque
Non-traumatic ungual or periungual fibroma
Hypomelanotic macules (more than three)
Shagreen patch (connective tissue nevus)
Multiple retinal nodular hamartomas
Cortical tubera
Subependymal nodule
Subependymal giant cell astrocytoma
Cardiac rhabdomyoma, single or multiple
Lymphangiomyomatosis
Renal angiomyolipoma
Minor criteria include
Multiple randomly distributed pits in dental enamel
Hamartomatous rectal polypsc
Bone cysts
Cerebral white matter migration lines
Gingival fibromas
Non-renal hamartoma
Retinal achromic patch
"Confetti" skin lesions
Multiple renal cysts
If she truly has >3 hypopigmented spots on evaluation of her entire skin by a doctor under a Woods lamp, and dental pits as above she would meet the crtieria for 'probable' but not definite TS (one major and one minor criteria). This email is for educational purposes only and cannot substitiute for a formal medical opinion. More testing like a retinal examination, heart and kidney ultrasound scans might be warranted to look for signs of TS. Sometimes an examination of the parents can be useful to look for subtle signs of TS can be helpful as a percentage of cases are inherited from parents. Most cases are sporadic mutations (not inherited).
I am a registered nurse. I happen to have an 8 yr. old niece who has T.S., dx'd at age 2yr. I really feel you should get a second opinion from a different neuro, a pediatric neuro. For 3 main reasons: 1. Your new pediatrician recommended to return to the neuro, 2. She is continuing to have these episodes that remain unchanged after 2 years (her body is trying to say something), and 3. Her mommy and daddy seem to have a gut feeling that something is not right! #3 is vital to me as a former pediatric nurse! I am a mother of 4 myself. We always know before the docs do if something is wrong with our child. If someone isn't listening or being thorough enough with persistent symptoms, go elsewhere. Do not allow them to make you second guess your own good parental instincts. I have tremendous faith in the field of medicine. MOST docs are truly gifted, however, as with any field, there are some that should not be practicing. Just go with your gut!
T.S. can be tricky. Sometimes difficult to dx, espec. if you are in a smaller town. This is not a common illness, therefore sometimes signs and symptoms can be overlooked. Obviously, the more a doc sees this disease, the easier it is to detect and dx which may be more likely in a larger hospital or town.
Has your daughter been dx'd with "ash-leaf" spots or lesions, (the hypopigmented areas often shaped like an ashleaf or long and narrow).I believe you mentioned she has one? Or, "cafe au lait" spots which are areas of hyperpigmentation? Any unusual growths, changes in vision, possible seizure activity (falling down, briefly "zoning out" or staring, mild twitches)? These night time episodes sound suspicious since they are so chronic and seem to follow the same pattern every time. Since you have read up on TS you are aware any area of the body can be affected since these lesions can present anywhere.
I wish you luck with your daughter. Cont. to find answers. These night episodes should be evaluated further.
T.S. can be tricky. Sometimes difficult to dx, espec. if you are in a smaller town. This is not a common illness, therefore sometimes signs and symptoms can be overlooked. Obviously, the more a doc sees this disease, the easier it is to detect and dx which may be more likely in a larger hospital or town.
Has your daughter been dx'd with "ash-leaf" spots or lesions, (the hypopigmented areas often shaped like an ashleaf or long and narrow).I believe you mentioned she has one? Or, "cafe au lait" spots which are areas of hyperpigmentation? Any unusual growths, changes in vision, possible seizure activity (falling down, briefly "zoning out" or staring, mild twitches)? These night time episodes sound suspicious since they are so chronic and seem to follow the same pattern every time. Since you have read up on TS you are aware any area of the body can be affected since these lesions can present anywhere.
I wish you luck with your daughter. Cont. to find answers. These night episodes should be evaluated further.
Sorry if I wasn't clear in intial post. My daughter is now 8. We live in the Cleveland area and her previous testing was done at Rainbow Babies.
You are reading content posted in the Neurology Forum
Find out how beta-blocker eye drops show promising results for acute migraine relief.
In this special Missouri Medicine report, doctors examine advances in diagnosis and treatment of this devastating and costly neurodegenerative disease.
Here are 12 simple – and fun! – ways to boost your brainpower.
Discover some of the causes of dizziness and how to treat it.
Discover the common causes of headaches and how to treat headache pain.
Two of the largest studies on Alzheimer’s have yielded new clues about the disease
