Tuberous Sclerosis?

Our daughter had her first syncope episode at 18 months that was explained as everything from breath holding to vasovagal to abdominal migraines, turned out she also had pneumonia. She is now three and has had 4 more major events since with two hospital stays. EEG and CT at 2 yrs (second event) were normal. ECG shows small blip that we were told was a right bundle branch block that she would outgrow. Her last major event was last Sept and we have been referred to neuro and cardiology to find out what is causing problems. She had an echocardiogram and holter in Feb. Holter normal but Dr says "speckling" showed up on echo - he diagnosed as tubers of the heart. Now we are told it is a 3 month wait for an MRI. She has a small lighter patch of skin on one leg that only showed up after a recent trip since she got a tan.    We are being sent for another EEG because of rare speech garbling, she is an advanced talker, rare fast blinking trances, and one strange zone out.
She has shown no delayed development, in fact she is advanced in all aspects for her age. Our concern is if it is tuberous sclerosis, could she get worse or go backwards? If the EEG is normal again does that rule out petit mal seizures and her blinking and speech is related to tiredness or illness? Can cardiac tubers be related to any other illness other than TS? Could these tubers be causing the blip on ECG?  We have a million questions and have a battle getting answers from our doctors. We are very blessed that our little girl is so healthy other than the syncope episodes but we want to have an answer

[CCF-Neuro-M.D.-PW]

A list of diagnostic criteria for TS exists to assust physician in making the diagnosis. These criteria have been formulated by internationally respected pediatric neurologists specializing in TS.

An examination of the skin by a Wood's lamp (a flouresent lamp that helps show pigmented or depigmented patches) should be done to evaluate the skin properly. Also a kidney ultrasound is also indicated if tubers are suspected as tubers occur commonly in the kidney also in TS.

Syncope may or may not be related to TS. A normal EEG does not rule out epilepsy or seizures. An MRI of the brain should reveal any existing tubers.

TS is a variable disease, and not all kids have learning or cognitive difficulties. THe diagnostic criteria below can be follwed or there is a commercially available genetic test for teh two common TS mutations. As you can see based on the information you provide, if the diagnosis of a heart 'tuber' is correct, then there is only one major criteria present = possible TS. A good evaluation for all of these criteria by a pediatric neurologist will be critical to making or refuting the diagnosis. Good luck

Major features
Facial angiofibromas or forehead plaque
Nontraumatic ungual (nail) or periungual fibrom a
Hypomelatonic macules (three or more)
Shagreen patch (connective-tissue nevus)
Multiple retinal nodular hamartomas
Cortical (brain) tubera
Subependymal (brain) nodule
Subependymal (brain) giant-cell astrocytoma
Cardiac rhabdomyoma, single or multiple
Lymphangiomyomatosis
Renal angiomyolipoma

Minor features
Multiple, randomly distributed pits in dental enamel
Hamarromatous rectal polyps
Bone cysts
Cerebral white matter radial migration lines
Gingival fibromas
Nonrenal hamartoma
Retinal achromic patch
'Confetti' skin lesions
Multiple renal cysts

Definite tuberous sclerosis complex
Either two major features or one major feature plus two minor features

Probable tuberous sclerosis complex
One major plus one minor feature

Possible tuberous sclerosis complex
Either one major feature or two or more minor features

Roach ES, et al. Tuberous sclerosis consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624