Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and down's syndrome

2004 ◽  
Vol 56 (6) ◽  
pp. 808-814 ◽  
Author(s):  
Yang Tang ◽  
Mark B. Schapiro ◽  
David N. Franz ◽  
Bonnie J. Patterson ◽  
Francis J. Hickey ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Expression Profiles ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Neurofibromatosis Type

scholarly journals Rare association of turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex

2009 ◽  
Vol 15 (2) ◽  
pp. 75 ◽  
Author(s):  
RamachandraB Nallur ◽  
MaliniS Suttur ◽  
SavithaR Mysore ◽  
Balasundaram Krishnamurthy
Keyword(s):  
Tuberous Sclerosis ◽  
Turner Syndrome ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Rare Association

scholarly journals An Update on the Ophthalmologic Features in the Phakomatoses

2016 ◽  
Vol 2016 ◽  
pp. 1-15 ◽  
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Andrea Maria Plateroti ◽  
Santi Maria Recupero ◽  
Alessandro Lambiase
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Imaging Techniques ◽  
Neurofibromatosis Type ◽  
Treatment Modalities ◽  
Near Infrared Reflectance ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Neurofibromatosis type 1, tuberous sclerosis complex, and Von Hippel-Lindau disease, historically classified as the phakomatoses, are hereditary multisystem disorders characterized by the presence of hamartoma, which carry the risk of malignant transformation. The alteration of tumor suppressor genes seems to be at the basis of their pathophysiogenetic mechanism. Lisch and choroidal nodules in neurofibromatosis type 1, retinal astrocytomas in tuberous sclerosis complex, and retinal capillary hemangioma in Von Hippel-Lindau disease are the principal ophthalmic hamartomatous manifestations. The advent of novel imaging techniques such as near infrared reflectance and optical coherence tomography has provided unprecedented insight on the choroidal and retinal features of these diseases. These methods have improved early diagnosis and the ongoing surveillance in these conditions. Among an array of treatment modalities, antivascular endothelial growth factor therapy has been used in the management of retinal hamartomas but results have been varied. This review is an update on the pathophysiogenetic mechanisms, ophthalmic manifestations, and novel treatment strategies in the phakomatoses with emphasis on the role of imaging techniques.

scholarly journals Optic Nerve Incidentaloma

2017 ◽  
Vol 1 (1) ◽  
pp. oapoc.0000004
Author(s):  
Andrea Grosso ◽  
Eric J. Sigler ◽  
John Randolph
Keyword(s):  
Optic Nerve ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Benign Tumors ◽  
Healthy Individuals ◽  
Imaging Characteristics ◽  
Astrocytic Hamartoma

Retinal astrocytic hamartomas are rare, benign tumors of glial origin. These lesions are often associated with systemic syndromes, including tuberous sclerosis complex and neurofibromatosis type 1, but also may be encountered in otherwise healthy individuals as an acquired lesion. We present the following case to illustrate clinical and imaging characteristics typically seen in astrocytic hamartoma found as “optic nerve incidentaloma” in an otherwise healthy teenager.

Case of tuberous sclerosis complex complicated by mosaic localized neurofibromatosis type 1

2013 ◽  
Vol 40 (5) ◽  
pp. 413-414
Author(s):  
Yukako Murakami ◽  
Mari Wataya-Kaneda ◽  
Mari Tanaka ◽  
Ichiro Katayama
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Francesca Cervi ◽  
Veronica Saletti ◽  
Katherine Turner ◽  
Angela Peron ◽  
Sara Bulgheroni ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Neurofibromatosis Type 1 ◽  
Screening Tool ◽  
Neurofibromatosis Type ◽  
Repetitive Behaviors ◽  
Academic Difficulties ◽  
Delayed Onset ◽  
Executive Skills ◽  
Neuropsychiatric Manifestations

Abstract Background Tuberous Sclerosis Complex (TSC) and Neurofibromatosis type 1 (NF1) are neurocutaneous disorders commonly characterized by neuropsychiatric comorbidities. The TAND (Tuberous Sclerosis Associated Neuropsychiatric Disorders) Checklist is currently used to quickly screen for behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations in patients with TSC. We administered the authorized Italian version of the TAND Checklist to the parents of 42 TSC patients and 42 age- and sex-matched NF1 patients, for a total of 84 individuals, aged 4–20 years. Aims of this study: - to test the overall usability of the TAND Checklist in NF1, −to compare the results between children and adolescents with TSC and NF1, and -to examine the association between neuropsychiatric manifestations and severity of the phenotype in terms of epilepsy severity in the TSC cohort and disease severity according to the modified version of the Riccardi severity scale in the NF1 cohort. Results TSC cohort: 35.6% had Intellectual Disability (ID), 11.9% Specific Learning Disorders (SLD), 50.0% Attention Deficit Hyperactivity Disorder (ADHD) and 16.6% anxious/mood disorder. 33.3% had a formal diagnosis of Autism Spectrum Disorder (ASD). Paying attention and concentrating (61.9%), impulsivity (54.8%), temper tantrums (54.8%), anxiety (45.2%), overactivity/hyperactivity (40.5%), aggressive outburst (40.5%), absent or delayed onset of language (40.5%), repetitive behaviors (35.7%), academic difficulties (> 40%), deficits in attention (61.9%) and executive skills (50.0%) were the most commonly reported problems. NF1 cohort: 9.5% had ID, 21.4% SLD, 46.6% ADHD, and 33.3% anxious/mood disorder. No one had a diagnosis of ASD. Commonly reported issues were paying attention and concentrating (59.5%), impulsivity (52.4%), anxiety (50.0%), overactivity/hyperactivity (38.1%), temper tantrums (38.1%), academic difficulties (> 40%), deficits in attention (59.5%), and executive skills (38.1%). Neuropsychiatric features in TSC vs NF1: Aggressive outburst and ASD features were reported significantly more frequently in TSC than in NF1. Neuropsychiatric manifestations and phenotype severity: Depressed mood, absent or delayed onset of language, repetitive language, difficulties in relationship with peers, repetitive behaviors, spelling, mathematics, dual-tasking, visuo-spatial tasks, executive skills, and getting disoriented were significantly different among TSC patients with different epilepsy severity. No statistically significant differences in the NF1 subgroups were noted for any of the items in the checklist. Conclusion The TAND Checklist used for TSC is acceptable and feasible to complete in a clinical setting, and is able to detect the complexity of neuropsychiatric involvement in NF1 as well. NF1 is mainly characterized by an ADHD profile, anxiety problems and SLD, while ASD features are strongly associated with TSC. In conclusion, the TAND Checklist is a useful and feasible screening tool, in both TSC and NF1.

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