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Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association

Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association there berous UBEROUS manifests diagnosis sclerosis complex is a genetic disorder that clinically in a variety of ways. Currently, berous sent. sclerosis complex” is the diagnosis when either one secondary If many feature or two tertiary features are prein a patient, is no known depends Sclerosis across a diagnosis gene on Association marker clinical has for the disease, criteria. The National developed-by and means thus Tu- of the characteristics simple; physical are present of information sponsors which gathered the at the I 1 clinics set it supports and diagnosis is relatively there are few, if any, in some cases, however, or radiologic clues. United of tuberous States-a sclerosis differently by the of criteria on can be made. Beafflicted Criteria cause the disease patients, assumptions manifests made among Diagnostic Certain findings have questionable specificity. For example, patients with a variety of disorders may experience epileptic seizures, and therefore this has not been included spasms as a criterion. occur more However, frequently it appears in patients that with infantile tuberous Committee about specificity tested in the future. However, “to be adaptable, Primary cial features susceptible of tuberous multiple of lesions will have to be these criteria are intended to modification sclerosis ungual complex fibromas,’ as data are cortical are fa- sclerosis than in those the finding of infantile with other disorders; spasms is included therefore, on this list of collected.” angiofibromas,’ diagnostic criteria as a tertiary feature. tuber (histologically confirmed), subependymal nodule or giant cell astrocytoma (histologically confirmed), multiple calcified subependymal nodules protruding into In most cases, diagnosis is made simpler because more than one characteristic is present. The presence of two or more similar lesions in the same organ system increases the diagnostic confidence, and some lesions are characteristically multiple (eg, dental pits or facial angiofibromas). In the absence of evidence that conclusively the ventricle Secondary (radiologic features evidence), include affected and multiple first-degree retinal rela- mdifrom dates tive, cardiac rhabdomyoma firmation), other retinal (histologic or radiologic conhamartoma or achromic patch,’ the diagnosis, features should be present different categories before a diagnosis (ie, primary, secondary, is definitely assigned. or tertiary) cerebral Shagreen tubers patch,’ (radiologic nodules confirmation), (radiologic noncalcifled lymphangioand subependymal angiomyomatosis myolipoma confirmation), forehead plaque,’ pulmonary (histologic confirmation), renal (radiologic or histologic confirmation), Some of the most specific findings of tuberous sclerosis (facial angiofibromas, ungual fibromas, renal angiomyolipomas, and subependymal nodules) do not manifest Until late childhood or adulthood. Therefore, it may be pmdent to re-evaluate a patient who is at risk patient and in whom a diagnosis was not made early in life. of tuberous renal fetti” domly cysts skin (histologic features are confirmation). hypomelanotic macules,’ Tertiary “conranperand/or lesions,’ renal enamel cysts pits (radiologic in deciduous evidence), polyps (histologic In general, it is better to base a diagnosis sclerosis on histologic findings of the lesion on clinical or radiologic findings. Therefore, demonstration rather than radiologic distributed of some necessitates lesions other is assigned confirming less imporevidence) than manent teeth, hamartomatous cysts rectal tance (and confirmation), bone nary lymphangiomyomatosis (radiologic evidence), pulmo(radiologic evidence), cere- histologic confirmation. A diagnosis may be made on the bral diologic white matter evidence), “migration gingival tracts” fibromas,’ or heterotopias hamartoma and sclerosis infantile complex” of (ra- other organs spasms. A diagnosis (histologic of “definite confirmation), tuberous basis of lesions seen often with tuberous sclerosis but still seen often in the general population only if other evidence is also present. The criteria are, to a certain extent, arbitrary, and some cases may not be diagnosed with However, the system. If the of case is fulfills nosis the criteria is nearly for “definite tuberous sclerosis,” diag- made tures, are if either one primary feature, two secondary or one secondary feature plus two tertiary present. The diagnosis is “probable tuberous feafeatures sclerosis ensured. classifications complex” if either one secondary plus one tertiary ture, or three tertiary features are present. “Suspect featu- sclerosis” and “suspect tuberous sclerosis” are less reliable. As these criteria are refined further, the diagnosis should become easier to make, until such time as a defi“probable tuberous nite genetic marker is identified. LANG ‘Histologic cally obvious. confirmation is not required if the lesion is clini- DIANE RSNA BERNEATH Publications #{149} Radiology August http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Radiology Radiological Society of North America, Inc.

Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association

DIANE BERNEATH LANG
Radiology , Volume 188: 328 – Aug 1, 1993
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Publisher
Radiological Society of North America, Inc.
Copyright
Copyright © August 1993 by Radiological Society of North America
ISSN
1527-1315
eISSN
0033-8419
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Abstract

there berous UBEROUS manifests diagnosis sclerosis complex is a genetic disorder that clinically in a variety of ways. Currently, berous sent. sclerosis complex” is the diagnosis when either one secondary If many feature or two tertiary features are prein a patient, is no known depends Sclerosis across a diagnosis gene on Association marker clinical has for the disease, criteria. The National developed-by and means thus Tu- of the characteristics simple; physical are present of information sponsors which gathered the at the I 1 clinics set it supports and diagnosis is relatively there are few, if any, in some cases, however, or radiologic clues. United of tuberous States-a sclerosis differently by the of criteria on can be made. Beafflicted Criteria cause the disease patients, assumptions manifests made among Diagnostic Certain findings have questionable specificity. For example, patients with a variety of disorders may experience epileptic seizures, and therefore this has not been included spasms as a criterion. occur more However, frequently it appears in patients that with infantile tuberous Committee about specificity tested in the future. However, “to be adaptable, Primary cial features susceptible of tuberous multiple of lesions will have to be these criteria are intended to modification sclerosis ungual complex fibromas,’ as data are cortical are fa- sclerosis than in those the finding of infantile with other disorders; spasms is included therefore, on this list of collected.” angiofibromas,’ diagnostic criteria as a tertiary feature. tuber (histologically confirmed), subependymal nodule or giant cell astrocytoma (histologically confirmed), multiple calcified subependymal nodules protruding into In most cases, diagnosis is made simpler because more than one characteristic is present. The presence of two or more similar lesions in the same organ system increases the diagnostic confidence, and some lesions are characteristically multiple (eg, dental pits or facial angiofibromas). In the absence of evidence that conclusively the ventricle Secondary (radiologic features evidence), include affected and multiple first-degree retinal rela- mdifrom dates tive, cardiac rhabdomyoma firmation), other retinal (histologic or radiologic conhamartoma or achromic patch,’ the diagnosis, features should be present different categories before a diagnosis (ie, primary, secondary, is definitely assigned. or tertiary) cerebral Shagreen tubers patch,’ (radiologic nodules confirmation), (radiologic noncalcifled lymphangioand subependymal angiomyomatosis myolipoma confirmation), forehead plaque,’ pulmonary (histologic confirmation), renal (radiologic or histologic confirmation), Some of the most specific findings of tuberous sclerosis (facial angiofibromas, ungual fibromas, renal angiomyolipomas, and subependymal nodules) do not manifest Until late childhood or adulthood. Therefore, it may be pmdent to re-evaluate a patient who is at risk patient and in whom a diagnosis was not made early in life. of tuberous renal fetti” domly cysts skin (histologic features are confirmation). hypomelanotic macules,’ Tertiary “conranperand/or lesions,’ renal enamel cysts pits (radiologic in deciduous evidence), polyps (histologic In general, it is better to base a diagnosis sclerosis on histologic findings of the lesion on clinical or radiologic findings. Therefore, demonstration rather than radiologic distributed of some necessitates lesions other is assigned confirming less imporevidence) than manent teeth, hamartomatous cysts rectal tance (and confirmation), bone nary lymphangiomyomatosis (radiologic evidence), pulmo(radiologic evidence), cere- histologic confirmation. A diagnosis may be made on the bral diologic white matter evidence), “migration gingival tracts” fibromas,’ or heterotopias hamartoma and sclerosis infantile complex” of (ra- other organs spasms. A diagnosis (histologic of “definite confirmation), tuberous basis of lesions seen often with tuberous sclerosis but still seen often in the general population only if other evidence is also present. The criteria are, to a certain extent, arbitrary, and some cases may not be diagnosed with However, the system. If the of case is fulfills nosis the criteria is nearly for “definite tuberous sclerosis,” diag- made tures, are if either one primary feature, two secondary or one secondary feature plus two tertiary present. The diagnosis is “probable tuberous feafeatures sclerosis ensured. classifications complex” if either one secondary plus one tertiary ture, or three tertiary features are present. “Suspect featu- sclerosis” and “suspect tuberous sclerosis” are less reliable. As these criteria are refined further, the diagnosis should become easier to make, until such time as a defi“probable tuberous nite genetic marker is identified. LANG ‘Histologic cally obvious. confirmation is not required if the lesion is clini- DIANE RSNA BERNEATH Publications #{149} Radiology August

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Radiology – Radiological Society of North America, Inc.

Published: Aug 1, 1993

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