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Case Report: Differential diagnosis for tuberous sclerosis and neurofibromatosis type 1 diagnostic pitfall of aggressively enlarged right upper limb.

ABSTRACT: Tuberous sclerosis complex (TSC) is an inherited disorder that typically presents with seizures, developmental delay, cutaneous lesions, and facial angiomas. Clinical diagnosis of TSC based on symptoms is sometimes challenging due to its clinical similarities with neurofibromatosis type 1 (NF1), another type of neurogenetic tumor syndrome. Differential diagnosis should be carefully performed on the basis of clinical presentations, imaging, laboratory, and genetic testing. Here, we presented a case of a patient with an aggressively enlarged right upper limb in the NF1 clinic, who was initially suspected of a giant plexiform neurofibroma. However, differential diagnosis revealed TSC as the final diagnosis. The treatments for NF1 and TSC vary significantly, and misdiagnoses can lead to serious threat to the patients' health. We also systematically reviewed all previous cases regarding differential diagnoses between NF1 and TSC. This case report can help clinicians make more accurate diagnoses and benefit the potential patient community.

SUBMITTER: Wei CJ

PROVIDER: S-EPMC9731334 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Case Report: Differential diagnosis for tuberous sclerosis and neurofibromatosis type 1 diagnostic pitfall of aggressively enlarged right upper limb.

Wei Cheng-Jiang CJ Peng Li-Ling LL Chuang Man-Hon MH Wang Zhi-Chao ZC Wang Bin B

Frontiers in oncology 20221124

Tuberous sclerosis complex (TSC) is an inherited disorder that typically presents with seizures, developmental delay, cutaneous lesions, and facial angiomas. Clinical diagnosis of TSC based on symptoms is sometimes challenging due to its clinical similarities with neurofibromatosis type 1 (NF1), another type of neurogenetic tumor syndrome. Differential diagnosis should be carefully performed on the basis of clinical presentations, imaging, laboratory, and genetic testing. Here, we presented a ca ...[more]

PMID: 36505768

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Project description:BackgroundTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organs. However, precise diagnosis is challenging owing to the lack of truly pathognomonic symptoms. This retrospective observational study aimed to explore the real-world diagnostic flow of Japanese patients with TSC by examining time to diagnosis (TTD) from the onset of each TSC-related manifestation to TSC diagnosis and the role of TSC clinic in timely diagnosis, using data from a health insurance database.MethodsAnalyses were performed using data derived from the JMDC Claims Database between January 2005 and December 2020. Patients with at least 1 confirmed diagnosis of TSC were stratified into 2 cohorts: Cohort 1 included cases diagnosed after 2 years of age, and Cohort 2 included cases diagnosed before 2 years of age. The primary endpoint was TTD in Cohorts 1 and 2. Secondary endpoints were the incidence of each manifestation in Cohort 1 and the incidence and risk ratios of TSC-unrelated symptoms in Cohort 2.ResultsCohorts 1 and 2 included 106 and 42 patients, respectively. In Cohort 1, patients with a renal tumor diagnosis as a primary TSC-related manifestation had the longest TTD with a wide range (median: 23 months to up to 91 months); patients with non-specific TSC-related manifestations such as brain tumor/intraventricular tumor, epilepsy, or intellectual disabilities also experienced a delay in TTD. In patients with TSC who developed epilepsy, those attending facilities with a TSC clinic were diagnosed with TSC more quickly than those attending facilities without a TSC clinic (median: 11.5 and 19.0 months, respectively; p = 0.0379). Epilepsy was the manifestation with the highest incidence (29.2%) among Cohort 1 patients, while cardiac rhabdomyoma had the highest incidence (54.8%) among Cohort 2 patients. Dry skin was the most common TSC-unrelated symptom in Cohort 2, with a 1.7-fold higher incidence rate than that in controls (N = 619,936).ConclusionJapanese patients with renal lesions as a primary TSC-related manifestation had the longest delay for a definitive diagnosis of TSC, followed by those with epilepsy, brain tumor/intraventricular tumor, and intellectual disabilities. The TSC clinic played an important role in the early diagnosis of TSC.

Dataset Information

Case Report: Differential diagnosis for tuberous sclerosis and neurofibromatosis type 1 diagnostic pitfall of aggressively enlarged right upper limb.

Publications

Case Report: Differential diagnosis for tuberous sclerosis and neurofibromatosis type 1 diagnostic pitfall of aggressively enlarged right upper limb.

Similar Datasets

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