Tuberous Sclerosis - Diagnosis,Test,Diagnostic Criteria

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TUBEROUS SCLEROSIS

Tuberous Sclerosis Diagnosis

Related topics

Tuberous Sclerosis and It's Symptoms Detection

Tuberous Sclerosis Management Prognosis and Cure

Dr. Ira Shah
M.D, DCH(Gold Medalist), FCPS, DNB

Q: What is tuberous sclerosis?

A. Since the effects of Tuberous sclerosis are variable, the condition can be diagnosed anytime from infancy to adulthood. By the age of 5 - 10 yrs, it is possible to predict the extent of the disease and problems that can occur later.

A classical picture of Tuberous sclerosis is mental retardation, epilepsy and adenoma sebaceum. Depending upon the age of the child, the following tests are done:-

Brain MRI or CT Scan.

EEG( Brain Wave recording)

Skin examination under UVLight ( Wood's Lamp).

Echocardiogram of the heart

Ultrasound of the kidneys

Eye examination

Blood test to check renal functioning and anaemia

From the above tests, your doctor will be able to tell you whether you child has tuberous sclerosis.

Table 1. Diagnostic criteria for Tuberous sclerosis

Primary features (Only one feature is required to make a diagnosis)	Secondary features (Two or more features are required to make a diagnosis)
Classical Shagreen patches. Ungual fibroma Retinal hamartoma Facial angiofibroma Subependymal glial nodules Renal angiomyolipoma	Hypomelanotic macules Gingival fibromas Bilateral polycystic kidneys Cardiac rhabdomyoma Cortical tuber (histological) Radiographic 'honeycomb' lungs Infantile spasms Myoclonic, tonic or atonic seizures First degree relative with tuberous sclerosis Forehead fibrous plaque Giant cell astrocytoma

[Taken from Tuberous sclerosis Medical Booklet, modified from Gomez (2)]

Next : Tuberous Sclerosis Management,Prognosis and Cure

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