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Neurology (Expert Forum)
Probable Tuberous Sclerosis and Possible Infantile Spasm
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Probable Tuberous Sclerosis and Possible Infantile Spasm
by TSC Mum, Feb 28, 2001 12:00AM
My daughter (4) has very recently been diagnosed with probable tuberous sclerosis. There is no family history of this so we assume it is a spontaneous occurrence. We have 3 ash-leaf shaped hypopigmented areas on her trunk and one limb and hypopigmented macules on her forehead She is globally developmentally delayed with speech being the area most profoundly affected. Her CT scan, opthalmic exam, kidney scan, heart ultrasound were all normal. She has not had noticeable seizures although there was one zone-out episode where her eyes did an odd refocusing when she finally did come out of it. It seemed more than the usual toddler zone-out to me. An EEG was performed several weeks after this incident and it was normal. We have not had a cranial MRI although our geneticist is consulting about this and it may still be scheduled shortly. Both our neurologist and geneticist feel her muscle tone is very low although her muscle bulk is good. I believe she has been low tone since birth. No one actually used the terms "low muscle tone" or "hypotonia" with us until she was over a year old although both the birth pediatrician and our g.p. seemed somewhat concerned about the range of movement when doing early hip checks. There is no record of hypotonia in her birth records. In fact, the records note her muscle tone is good. We did have affectionate nicknames for her from birth (we were having trouble coming up with a name) which suggest the low tone was present then. We had alternately nicknamed her "froggy" (because of frog-like leg and arm position when laying), "sphagetti kid" (floppy), and "stick baby" (see below). From age 1 to 3+ we were told she had benign congenital hypotonia even though we also had the presence of obvious developmental delay. We have been told that cerebral palsy is not a concern. We have been involved in a local infant development program since she was 1 when we first became concerned about the physical delays and have had early access to physiotherapy, speech therapy, etc., and are scheduled to see a developmental psychologist and the augmentative communication team at our local children's specialized health centre. The geneticist sees possible hints of autism and wants this investigated.
My concerns are in hindsight with respect to her birth and the first few months afterward. She was a full term baby, born at 6 lbs., a spontaneous vaginal delivery with only about 3 hours labour. The pregnancy was uneventful and healthy - on folic acid 1 year before becoming pregnant, good diet, good weight gain, no alcohol or drugs of any kind except a few tylenol and occasional tums for indigestion. My water broke the day before and upon admittance to hospital less than 24 hours later I was given antibiotics. There were no problems with her birth although she was suctioned for thick mucous, given oxygen "free flow" and had mild tachypnea which was treated with antibiotics until investigations proved negative. Screening tests for Phenylketonuria, Galactosemia and Congential Hypothyroidism were negative. Her APGARS were 6 at 1 minute and 9 at 5 minutes. A pediatrician was called in because she was slightly irritable and her legs (and sometimes arms) were stiffening outward and slightly upward. Sometimes it would be only her legs in spasm with toes splayed and other times only her arms with fists clenched and thumbs over fingers. Most often it was both sets of limbs together with the same toe and finger stance. I do not recall these occurring in noticeable clusters, except perhaps a repitition of two movements. Her facial features did not seem to be affected nor was her breathing. She did not cry. It looked like her legs and arms were moving independent of her body and having no effect on the rest of her. This was much more noticeable as a newborn and it gradually subsided over weeks and, to my recollection, had completely ceased by the time she was 3 months old. There are no notations in her birth records with respect to this. With the probable diagnosis of tuberous sclerosis, I have become concerned that these could have been infantile spasms. I realize they do not fit the classic pattern of infantile spasms, but it still remains a concern to me. When pregnant, I was receiving very large fundus measurements and was told the baby was large. I now wonder whether her limbs were spasming in the womb also since she was only six pounds at birth and 49 cm. in length. If it is possible it was infantile spasms then, as I understand it, we are somewhat more likely to experience other seizure activity with the tuberous sclerosis. As a parent, I would find it helpful to know if there is a possibility they were infantile spasms so I have a better idea of what may lay ahead. From speaking with a tuberous sclerosis family support group that the geneticist referred us to, I understand that missed infantile spasms are apparently a very common story with TSC families. I have tried to raise this issue with our caregivers, but don't really get dialogue and am basically just told in a nice way to stop worrying.
Basically, my questions are: Is it possible the limb movements could have been infantile spasm? If unsure, what other causes could there be for this limb movement? Also, is hypotonia that difficult to recognize in a newborn? Your advice would be greatly appreciated.
My concerns are in hindsight with respect to her birth and the first few months afterward. She was a full term baby, born at 6 lbs., a spontaneous vaginal delivery with only about 3 hours labour. The pregnancy was uneventful and healthy - on folic acid 1 year before becoming pregnant, good diet, good weight gain, no alcohol or drugs of any kind except a few tylenol and occasional tums for indigestion. My water broke the day before and upon admittance to hospital less than 24 hours later I was given antibiotics. There were no problems with her birth although she was suctioned for thick mucous, given oxygen "free flow" and had mild tachypnea which was treated with antibiotics until investigations proved negative. Screening tests for Phenylketonuria, Galactosemia and Congential Hypothyroidism were negative. Her APGARS were 6 at 1 minute and 9 at 5 minutes. A pediatrician was called in because she was slightly irritable and her legs (and sometimes arms) were stiffening outward and slightly upward. Sometimes it would be only her legs in spasm with toes splayed and other times only her arms with fists clenched and thumbs over fingers. Most often it was both sets of limbs together with the same toe and finger stance. I do not recall these occurring in noticeable clusters, except perhaps a repitition of two movements. Her facial features did not seem to be affected nor was her breathing. She did not cry. It looked like her legs and arms were moving independent of her body and having no effect on the rest of her. This was much more noticeable as a newborn and it gradually subsided over weeks and, to my recollection, had completely ceased by the time she was 3 months old. There are no notations in her birth records with respect to this. With the probable diagnosis of tuberous sclerosis, I have become concerned that these could have been infantile spasms. I realize they do not fit the classic pattern of infantile spasms, but it still remains a concern to me. When pregnant, I was receiving very large fundus measurements and was told the baby was large. I now wonder whether her limbs were spasming in the womb also since she was only six pounds at birth and 49 cm. in length. If it is possible it was infantile spasms then, as I understand it, we are somewhat more likely to experience other seizure activity with the tuberous sclerosis. As a parent, I would find it helpful to know if there is a possibility they were infantile spasms so I have a better idea of what may lay ahead. From speaking with a tuberous sclerosis family support group that the geneticist referred us to, I understand that missed infantile spasms are apparently a very common story with TSC families. I have tried to raise this issue with our caregivers, but don't really get dialogue and am basically just told in a nice way to stop worrying.
Basically, my questions are: Is it possible the limb movements could have been infantile spasm? If unsure, what other causes could there be for this limb movement? Also, is hypotonia that difficult to recognize in a newborn? Your advice would be greatly appreciated.
Doctor's Answer
by CCF Neuro[P]-M.D.-RPS, Feb 28, 2001 12:00AM
Dear TSC:
Sorry that your daughter has some health problems. However, my play on whether your daughter has TS is only my opinion, but it is no. There are criteria that the TS group came up with having major criteria and minor criteria. The major criteria are facial angiofibroma, periungual fibroma, hypomelanotic macules, shagreen patch, nodular harmatoma, cortical tuber, subependymal nodule or astrocytoma, cardiac rhabdomyoma, lymphangiomyomatosis, and renal angiomyolipoma with the minor criteria of dental pits, hamartomatous rectal plyps, bone cysts, white matter radial migration lines, gingival fibromas, nonrenal harartoma, retinal archromic patch, confetti skin lesions, and renal cysts. For definite TS you need 2 major or 1 major and 2 minor, probable TS you need 1 major and 1 minor, possible TS is 1 major or 2 minor. You only have 1 major criteria so possible TS??? The normal EEG strongly suggests that your daughter did not have infantile spasms (usually due to cortical harmatoma or tuber) and the normal CT would suggest a harmatoma is not present. An MRI is a good idea but the CT should have been sensitive enough. There is also gene testing for the genes involved. I would pursue the gene testing TSC-2 and I am not sure if there is testing for the TSC-1 commerically yet. I might be incorrect about whether your daughter has possible TS or not. With a normal EEG and CT and if the MRI is normal, my take on your daughter would be no.
Yes, hypotonia can be difficult to determine at birth, but at the 4-6 month office visit it is more easily detected.
Sincerely,
CCF Neuro MD
Sorry that your daughter has some health problems. However, my play on whether your daughter has TS is only my opinion, but it is no. There are criteria that the TS group came up with having major criteria and minor criteria. The major criteria are facial angiofibroma, periungual fibroma, hypomelanotic macules, shagreen patch, nodular harmatoma, cortical tuber, subependymal nodule or astrocytoma, cardiac rhabdomyoma, lymphangiomyomatosis, and renal angiomyolipoma with the minor criteria of dental pits, hamartomatous rectal plyps, bone cysts, white matter radial migration lines, gingival fibromas, nonrenal harartoma, retinal archromic patch, confetti skin lesions, and renal cysts. For definite TS you need 2 major or 1 major and 2 minor, probable TS you need 1 major and 1 minor, possible TS is 1 major or 2 minor. You only have 1 major criteria so possible TS??? The normal EEG strongly suggests that your daughter did not have infantile spasms (usually due to cortical harmatoma or tuber) and the normal CT would suggest a harmatoma is not present. An MRI is a good idea but the CT should have been sensitive enough. There is also gene testing for the genes involved. I would pursue the gene testing TSC-2 and I am not sure if there is testing for the TSC-1 commerically yet. I might be incorrect about whether your daughter has possible TS or not. With a normal EEG and CT and if the MRI is normal, my take on your daughter would be no.
Yes, hypotonia can be difficult to determine at birth, but at the 4-6 month office visit it is more easily detected.
Sincerely,
CCF Neuro MD
