Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria

1998 ◽  
Vol 13 (12) ◽  
pp. 624-628 ◽  
Author(s):  
E.S. Roach ◽  
Manuel R. Gomez ◽  
Hope Northrup
Keyword(s):  
Tuberous Sclerosis ◽  
Diagnostic Criteria ◽  
Tuberous Sclerosis Complex ◽  
Consensus Conference ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Criteria

scholarly journals Tuberous Sclerosis Complex : A Case Report

2019 ◽  
Vol 15 (2) ◽  
pp. 127
Author(s):  
Aunur Rofiq ◽  
Lita Setyowati ◽  
Aninda Fitri Nugrahani
Keyword(s):  
Mental Retardation ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Skin Color ◽  
De Novo ◽  
Suppressor Gene ◽  
Consensus Conference ◽  
De Novo Mutation ◽  
Neurocutaneous Disorder ◽  
Clinical Diagnostic Criteria

Tuberous Sclerosis Complex (TSC) is an autosomal dominant inherited neurocutaneous disorder. Tuberous Sclerosis Complex is caused by mutations in tumor suppressor gene (TSC), both TSC1 and TSC2.  In approximately two-thirds of cases neither parent has signs of TSC and the disease is caused by a de  novo mutation. Tuberous Sclerosis Complex is classically identified by the Vort's triad in the presence of angiofibroma, mental retardation, and epilepsy. A 17-year-old woman with a major complaint of a facial bump that appeared at birth and got bigger when she reached puberty. There are white patches on the patient's body from birth. On the scalp obtained the presence of skin color plaque, while at the back and right knee obtained shagreen patch. Patientwas diagnosed with epilepsy and mental retardation by the pediatric department. No family history has the same complaints as patient. Histopathologic examination of facial bumps taken by shaving biopsy suggests the presence of hemangiomas. Based on the clinical diagnostic criteria from International Tuberous Sclerosis Complex Consensus Conference 2012, the patient meets two major criteria, macular hypopigmentation and shagreen patch so it is included in "definite diagnosis".

scholarly journals Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

2013 ◽  
Vol 49 (4) ◽  
pp. 243-254 ◽  
Author(s):  
Hope Northrup ◽  
Darcy A. Krueger ◽  
Hope Northrup ◽  
Darcy A. Krueger ◽  
Steven Roberds ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Diagnostic Criteria ◽  
Tuberous Sclerosis Complex ◽  
Consensus Conference

Tuberous Sclerosis Complex fulfilling the criteria set by the 2012 International Tuberous Sclerosis Complex Consensus Conference: A case report (Preprint)

2021 ◽  
Author(s):  
Aimen Malik ◽  
Arshia Akbar ◽  
Gohar Ashraf ◽  
Hammad Akram
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Consensus Conference ◽  
Benign Tumors ◽  
Early Age ◽  
Neurological Manifestations ◽  
Pathological Features ◽  
Clinical Criteria ◽  
The Brain ◽  
Clinical Diagnostic Criteria

UNSTRUCTURED Tuberous Sclerosis Complex (TSC) is a rare multisystem neuro-cutaneous disorder associated with the growth of benign tumors in different organs such as the brain, lungs, kidneys, heart, and eye. The dermatological findings of this disorder are very common; present at early age and not easy to miss. The neurological manifestations of TSC include seizures, autism, and intellectual disabilities. Furthermore, intracranial abnormalities and hamartoma formation in the heart and other organs are found among sufferers. The clinical diagnostic criteria have been critically evaluated and updated in the 2012 International Tuberous Sclerosis Conference. The diagnosis is based on genetic criteria, clinical criteria, and various manifestations of skin, kidneys, lungs, and brain. The management involves multispecialty and multidisciplinary approaches. Here, we present a case of a 13-years-old female with characteristic clinical, radiological, and pathological features of TSC. The patient had many dermatological manifestations of the condition.

scholarly journals Oral and skin manifestations of tuberous sclerosis complex

2019 ◽  
Vol 25 (4) ◽  
pp. 34
Author(s):  
Lafont Jacinthe ◽  
Catherine Jean-Hughes ◽  
Lejeune Mathilde ◽  
Ordioni Ugo ◽  
Lan Romain ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Diagnostic Criteria ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disease ◽  
Mammalian Target Of Rapamycin ◽  
Clinical Manifestations ◽  
Consensus Conference ◽  
Clinical Criteria ◽  
Genes Encoding ◽  
Diagnostic Criterion

Tuberous sclerosis complex is a genetic disease characterized by multisystemic hamartomas with variable and non-specific clinical manifestations. The disease is associated with mutations of genes encoding the proteins hamartin and tuberin. The hamartin/tuberin complex plays an anti-tumor function by inhibiting mammalian target of rapamycin. The diagnostic criteria for the disease were reviewed at a consensus conference in 2012. Evidence of mutations of tuberous sclerosis complex 1 or 2 genes has become a clinical and independent diagnostic criterion. Among the clinical criteria used, two oral criteria include the presence of three or more enamel pits and the presence of two or more oral fibromas. Several dermatological criteria are included within these criteria and are of interest in our specialty when these are localized at the cephalic extremity.

scholarly journals Diagnostic difficulties and possibilities of NF1-like syndromes in childhood

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Eva Pinti ◽  
Krisztina Nemeth ◽  
Krisztina Staub ◽  
Anna Lengyel ◽  
Gyorgy Fekete ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Neurofibromatosis Type ◽  
Early Years ◽  
Diagnostic Efficiency ◽  
Clinical Criteria ◽  
Pathogenic Variants ◽  
Clinical Diagnostic ◽  
Long Time ◽  
Diagnostic Difficulties ◽  
Clinical Diagnostic Criteria

Abstract Background Neurofibromatosis type 1 (NF1), which is caused by heterozygous inactivating pathogenic variants in the NF1, has poor phenotypic expressivity in the early years of life and there are numerous conditions, including many other tumor predisposition syndromes, that can mimic its appearance. These are collectively termed NF1-like syndromes and are also connected by their genetic background. Therefore, the NF1’s clinical diagnostic efficiency in childhood could be difficult and commonly should be completed with genetic testing. Methods To estimate the number of syndromes/conditions that could mimic NF1, we compiled them through an extensive search of the scientific literature. To test the utility of NF1’s National Institutes of Health (NIH) clinical diagnostic criteria, which have been in use for a long time, we analyzed the data of a 40-member pediatric cohort with symptoms of the NF1-like syndromes’ overlapping phenotype and performed NF1 genetic test, and established the average age when diagnostic suspicion arises. To facilitate timely identification, we compiled strongly suggestive phenotypic features and anamnestic data. Results In our cohort the utility of NF1’s clinical diagnostic criteria were very limited (sensitivity: 80%, specificity: 30%). Only 53% of children with clinically diagnosed NF1 had a detectable NF1 pathogenic variation, whereas 40% of patients without fulfilled clinical criteria tested positive. The average age at first genetic counseling was 9 years, and 40% of children were referred after at least one tumor had already been diagnosed. These results highlight the need to improve NF1-like syndromes’ diagnostic efficiency in childhood. We collected the most extensive spectrum of NF1-like syndromes to help the physicians in differential diagnosis. We recommend the detailed, non-invasive clinical evaluation of patients before referring them to a clinical geneticist. Conclusions Early diagnosis of NF1-like syndromes can help to prevent severe complications by appropriate monitoring and management. We propose a potential screening, diagnostic and management strategy based on our findings and recent scientific knowledge.

scholarly journals MRI is Unnecessary for Diagnosing Acute Achilles Tendon Ruptures: Clinical Diagnostic Criteria

2012 ◽  
Vol 470 (8) ◽  
pp. 2268-2273 ◽  
Author(s):  
David N. Garras ◽  
Steven M. Raikin ◽  
Suneel B. Bhat ◽  
Nicholas Taweel ◽  
Homyar Karanjia
Keyword(s):  
Achilles Tendon ◽  
Diagnostic Criteria ◽  
Clinical Diagnostic ◽  
Tendon Ruptures ◽  
Clinical Diagnostic Criteria

Clinical diagnostic criteria of modern spice addiction

2017 ◽  
Vol 41 (S1) ◽  
pp. s880-s880
Author(s):  
I. Sosin ◽  
Y. Chuev ◽  
G. Misko ◽  
O. Goncharova
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Laboratory ◽  
Psychological Testing ◽  
Synthetic Analogues ◽  
Clinical Diagnostic ◽  
Hoarse Voice ◽  
Sexual Disinhibition ◽  
Competing Interest ◽  
Clinical Diagnostic Criteria

IntroductionPopulations of spice addicts in Ukraine demonstrate distinct tendency for steady spreading, and transitory psychotic episodes, overdosing and fatal cases are being registered in consequence of smoking. “Spice” are synthetic analogues of tetrahydrocannabinol.Aims and objectivesTo develop an average personified clinical portrait of spice addict for more specified therapy.MethodTwelve patients who consumed spices systematically for 1–2 years were observed. Methods of examination: clinical psychopathological, psychological testing, clinical laboratory.ResultsMain spice addiction diagnostic criteria were: Spice smoking, obsessive and uncontrolled anosognosic desire and craving to test on themselves effects of their action, pathognomonic tolerance increase, specific post-intoxication consequences. After the first smoke inspiration heavy intoxication with euphoria and loss of surrounding real perception, sexual disinhibition and craving to repeat smoking manifested after the first smoke inspiration. Then, spice smoking became subjectively pleasant, caused condition of intoxication with increased mood, fussiness, was accompanied with feeling of hunger, thirst, and hoarse voice. In the patients rather quickly (for 2–3 weeks) twice reduced duration of intoxication state from 40 to 20 minutes, loss of situation and quantitative control over smoking was observed. Clinical specifics of addiction for spices smoking is rather quick (from 5 to 10 trials) formation of psychic equivalent of addiction, extremely intensive and emotionally saturated craving for smoking, quick rise of tolerance with loss of situational and quantitative control over smoking.ConclusionsDefinite rules in the development and formation of spice dependence is necessary to be considered while developing programs for therapy and prevention in clinical narcology.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Evaluation of the Diagnostic Criteria for Anti-NMDA Receptor Encephalitis in Japanese Children

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000011789
Author(s):  
Hiroya NISHIDA ◽  
Kuniko KOHYAMA ◽  
Satoko KUMADA ◽  
Jun-ichi TAKANASHI ◽  
Akihisa OKUMURA ◽  
...  
Keyword(s):  
Nmda Receptor ◽  
Diagnostic Criteria ◽  
Predictive Value ◽  
False Positive ◽  
Pediatric Population ◽  
True Positive ◽  
Positive Group ◽  
Nmdar Encephalitis ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Criteria

OBJECTIVE:To evaluate the validity of the 2016 clinical diagnostic criteria proposed for probable anti-NMDA receptor (NMDAR) encephalitis in children, we tested the criteria in a Japanese pediatric cohort.METHODS:We retrospectively reviewed clinical information of patients with neurological symptoms whose CSF were analyzed for NMDAR antibodies (Abs) in our laboratory from January 1, 2015, to March 31, 2019.RESULTS:Overall, 137 cases were included. Of the 41 cases diagnosed as probable anti-NMDAR encephalitis (“criteria-positive”) according to the 2016 criteria, 13 were positive and 28 were negative for anti-NMDAR Abs. Of the 96 criteria-negative cases, three were positive and 93 were negative for anti-NMDAR Abs. The sensitivity of the criteria was 81.2%, specificity was 76.9%, positive predictive value (PPV) was 31.7%, and negative predictive value was 96.9%. Compared with the true-positive group, the false-positive group contained more male than female patients (male:female, 4:9 in the true-positive vs. 19:9 in the false-positive group, p = 0.0425). The majority of the cases with false-positive diagnoses were associated with neurological autoimmunity.CONCLUSION:The clinical diagnostic criteria are reliable for deciding to start immunomodulatory therapy in the criteria-positive cases. Low PPV may be caused by a lower prevalence of NMDAR encephalitis and/or lower level of suspicion for encephalitis in the pediatric population. Physicians should therefore continue differential diagnosis, focusing especially on other forms of encephalitis.Classification of Evidence:This study provides Class IV evidence that the proposed diagnostic criteria for anti-NMDAR encephalitis in children has a sensitivity of 81.2% and a specificity of 76.9%.

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