Tuberous sclerosis in a child

Tuberous Sclerosis (TS) is the most common single gene disorder in children. It has an incidence of 1 in 5800 live births. It is an autosomal dominant genetic multisystemic disease characterized by hamartic development of many organs most notably the brain, heart, kidney, lungs and skin. It results from mutation of TSC1 and TSC2 gene coding for hamartin and tuberin respectively. Most of the newborns are asymptomatic. In infancy, seizures are the most common symptoms with a high incidence of infantile spasm while children between 2- 10 years neurological symptoms are most frequent with epilepsy, mental retardation and autism. Authors report a 4-year-old male child born of grade 3 consanguineous marriage presented with seizures in form of Infantile Spasm and Skin Lesions.

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Tale of a Teenager: A Case Report of Tuberous Sclerosis

Bangladesh Journal of Medicine ◽

10.3329/bjm.v33i1.56798 ◽

2021 ◽

Vol 33 (1) ◽

pp. 99-103

Author(s):

Nawsabah Noor ◽

Iffat Ara Jurfa ◽

Halima Khatun ◽

Homayra Tahseen ◽

Quazi Tarikul Islam

Keyword(s):

Case Report ◽

Tuberous Sclerosis ◽

Clinical Features ◽

Tuberous Sclerosis Complex ◽

Autosomal Dominant ◽

Skin Lesions ◽

Benign Tumors ◽

Dominant Inheritance ◽

Neurocutaneous Syndrome ◽

The Brain

Tuberous sclerosis complex is an unusual neurocutaneous syndrome with autosomal-dominant inheritance. It is characterized by the development of benign tumors involving the brain, skin, retina, heart, kidneys, lungs, and liver. The classic triad of clinical features comprises learning disability, epilepsy and skin lesions but there is marked heterogeneity in clinical features. Here, we present a case report of a 17-old-year male with characteristic clinical and radiological features of tuberous sclerosis complex. Bangladesh J Medicine July 2022; 33(1) : 99-103

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Tuberous Sclerosis and Autism

10.1093/med/9780199744312.003.0009 ◽

2013 ◽

Author(s):

Dan Ehninger ◽

Alcino J. Silva

Keyword(s):

Tuberous Sclerosis ◽

Autosomal Dominant ◽

De Novo ◽

Single Gene ◽

Gene Mutations ◽

Extended Version ◽

Single Gene Disorder ◽

Autosomal Dominant Pattern ◽

Organ Systems ◽

The Brain

Tuberous sclerosis (TSC) is a single-gene disorder caused by heterozygous mutations in either the TSC1 or TSC2 genes (Consortium, 1993; van Slegtenhorst et al., 1997). In 70% of cases, TSC gene mutations arise de novo. The remaining 30% of cases are familial with an autosomal dominant pattern of inheritance. Tuberous sclerosis belongs to the group of phakomatoses (neurocutaneous disorders) and is associated with characteristic manifestations in various organ systems, including the brain, skin, kidney, lung, heart, and liver (Crino, Nathanson, & Henske, 2006; Curatolo, Bombardieri & Jozwiak, 2008). Pathological manifestations in these organ systems often include tumor growths or tissue malformations (hamartomas). While penetrance is high, expressivity of TSC phenotypes is highly variable. The birth incidence of TSC is approximately 1:6,000 (Osborne, Fryer, & Webb, 1991). This chapter is an updated and extended version of a previous article on this topic (Ehninger, de Vries, & Silva, 2009)

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Tuberous Sclerosis as a cause of difficult-to-control Epilepsy - Case report

The Gazette of Medical Sciences ◽

10.46766/thegms.neuro.20102304 ◽

2020 ◽

Vol 1 (5) ◽

pp. 73-77

Author(s):

Walter Leonardo Alves Gusmão ◽

◽

Antonio Marcos da Silva Catharino ◽

Keyword(s):

Tuberous Sclerosis ◽

Autosomal Dominant ◽

Significant Proportion ◽

Intractable Epilepsy ◽

Skin Lesions ◽

Clinical Criteria ◽

Multisystem Involvement ◽

High Penetrance ◽

Dominant Disease ◽

The Brain

Tuberous Sclerosis Complex or Bourneville’s disease is an autosomal dominant disease with high penetrance and variability characterized by multisystem involvement by benign lesions, originally defined by the classic triad of Vogt: sebaceous adenoma, epilepsy and mental retardation. The involvement of the brain is responsible for a significant proportion of the morbidity and mortality of this disease and skin lesions are the most common manifestations. The authors report 31-year-old patient case referred to the service by intractable epilepsy with definitive clinical criteria for tuberous sclerosis.

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A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

Human Genome Variation ◽

10.1038/s41439-020-00124-8 ◽

2020 ◽

Vol 7 (1) ◽

Author(s):

Saba Ahmad ◽

Luis Manon ◽

Gifty Bhat ◽

Jerry Machado ◽

Alice Zalan ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Cellular Differentiation ◽

Autosomal Dominant ◽

De Novo ◽

Autosomal Dominant Disease ◽

Sacrococcygeal Teratoma ◽

Dominant Disease ◽

The Brain

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

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Tuberous Sclerosis Complex

10.1093/med/9780199937837.003.0050 ◽

2017 ◽

Author(s):

Tanjala T. Gipson ◽

Andrea Poretti ◽

Rebecca McClellan ◽

Michael V. Johnston

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Scientific Discovery ◽

Skin Lesions ◽

Benign Tumors ◽

Behavioral Difficulties ◽

Future Directions ◽

Neurocutaneous Disorder ◽

The Status ◽

The Brain

Tuberous sclerosis complex (TSC) is a disease, commonly classified as a neurocutaneous disorder, which may result in benign tumors throughout the brain and body, skin lesions, epilepsy, and cognitive/behavioral difficulties. Scientific discovery in TSC has resulted in the availability of treatments designed to target the neurobiological core of TSC in children. However, research is needed to determine if these treatments are effective for multiple aspects of the TSC phenotype in children. Current pediatric research studies have focused on the effects of early treatment of epilepsy as well as identification of potential biomarkers. This chapter reviews the aspects of TSC unique to pediatric patients, the status of current research, and future directions.

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Case report on tuberous sclerosis

Vestnik dermatologii i venerologii ◽

10.25208/vdv1211 ◽

2021 ◽

Vol 97 (2) ◽

pp. 56-60

Author(s):

Nadezhda V. Krasnova ◽

Geliya G. Gimalieva ◽

Larisa G. Sinitsyna

Keyword(s):

Case Report ◽

Early Diagnosis ◽

Ct Scan ◽

Tuberous Sclerosis ◽

Skin Lesions ◽

Visual Examination ◽

Comprehensive Examination ◽

The Face ◽

The Brain ◽

Tubular Bones

Patient M., 23 years old, consulted a dermatologist with complaints of rashes on the face, which had bothered since childhood. On objective examination, skin lesions were widespread. A visual examination revealed spots of hypopigmentation, angiofibromas of the face, shagreen fate of the skin, periungual fibromas. She was diagnosed with tuberous sclerosis. Further examination revealed a neoplasm in the brain and right kidney, damage to the lungs, tubular bones, lymphadenopathy. The patient continues to be monitored by a neurologist and therapist. Based on the results of CT scan of the chest organs, an oncologist's consultation was scheduled to conduct an oncology search. Thus, with skin manifestations characteristic of this disease, it is necessary to conduct a comprehensive examination to identify concomitant pathology and early diagnosis of complications.

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Case report on tuberous sclerosis

International Journal of Basic & Clinical Pharmacology ◽

10.18203/2319-2003.ijbcp20171119 ◽

2017 ◽

Vol 6 (4) ◽

pp. 997

Author(s):

Zeebaish S. ◽

Hemalatha P. ◽

Anusha Y. ◽

Surendra Reddy N. ◽

Durga Prasad T. S.

Keyword(s):

Case Report ◽

Early Diagnosis ◽

Tuberous Sclerosis ◽

Female Child ◽

Skin Lesions ◽

Multisystem Disorder ◽

Three Generations ◽

Pigmented Skin Lesions ◽

The Brain

Tuberous sclerosis is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung and liver. The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively. Most features of tuberous sclerosis become evident only in childhood, limiting their usefulness for early diagnosis. We report a case of 3months old female child with seizures and hypo-pigmented skin lesions. The case is rare as it is documented in a family affected continuously in three generations involving four members.

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TUBEROUS SKLEROSIS PADA ANAK

JURNAL BIOMEDIK (JBM) ◽

10.35790/jbm.7.3.2015.10444 ◽

2015 ◽

Vol 7 (3) ◽

Author(s):

Sandra Ayamiseba ◽

Pieter L. Suling

Keyword(s):

Mental Retardation ◽

Tuberous Sclerosis ◽

Diagnostic Criteria ◽

Clinical Picture ◽

Autosomal Dominant ◽

Histopathological Examination ◽

Skin Lesions ◽

Systemic Involvement ◽

The Us ◽

Dominant Disease

Abstract: Tuberous sclerosis (TS) is an autosomal dominant disease associated with mutation of one of two different genes, TSC1 or TSC2. The typical clinical picture of TS cases is skin lesions, mental retardation, and epilepsy. According to the consensus of TS alliance, the US National Tuberous Sclerosis Association, in July 1998, the diagnostic criteria of TS are based on major and minor symptoms: two major symptoms, or one major and two minor symptoms. The management of the skin disorders such as angiofibroma with a cosmetic purpose can be done by using electrocauterization, dermabrasion, and excision. The prognosis depends on the systemic involvement. We reported a case of a male, aged 7 years, with 2 major symptoms of TS: facial angiofibroma that spreaded to his neck and back, and hypomelanotic macula on his back. The histopathological examination showed subepithelial keratosis associated with fibrocollagen tissue and teleangiectasis in the stroma, atrophy of sebacceous glands, without any malignancy. Conclusion: In this case, the diagnosis of tuberous sclerosis was based on anamnesis, clinical picture (two major symptoms), and histopathological examination. Electrocauterization could not be performed because the patient was incooperative. The prognosis was quo ad vitam, quo ad functionam, quo ad sanationam: dubia.Keywords: tuberous sclerosis, multiple hyperpigmented noduleAbstrak: Tuberous sklerosis (TS) merupakan suatu penyakit autosomal dominan yang dihubungkan dengan mutasi satu dari dua gen yang berbeda, yaitu TSC1 atau TSC2. Gambaran klinis yang khas pada kasus ini ialah lesi kulit, retardasi mental, dan epilepsi. Berdasarkan konsensus aliansi US National Tuberous Sclerosis Association pada Juli 1998 dirumuskan kriteria diagnostik berdasarkan adanya gejala mayor dan minor, yaitu dua gejala mayor; atau satu gejala mayor dan dua gejala minor. Prinsip pengobatan untuk kelainan kulit berupa angiofibroma dengan tujuan kosmetik yaitu dengan elektrokauter, dermabrasi, dan eksisi. Prognosis tergantung pada keterlibatan sistemik. Pada kasus ini ditemukan 2 gejala mayor yaitu angiofibroma pada wajah yang menyebar ke leher dan punggung serta makula hipomelanotik pada punggung. Pemeriksaan histopatologik jaringan menunjukkan hiperkeratosis subepitelial di lapisan epidermis. Tampak stroma jaringan ikat fibrokolagen dengan pelebaran pembuluh darah kapiler, kelenjar sebaseus atrofi, dan tidak didapatkan tanda-tanda keganasan. Simpulan: Pada kasus ini, diagnosis TS ditegakkan berdasarkan anamnesis, gambaran klinis (2 gejala mayor), dan pemeriksaan histopatologik. Penatalaksanaan dengan elektrokauter tidak dapat dilakukan karena pasien tidak kooperatif. Prognosis tergantung gejala klinis, quo ad vitam, quo ad functionam, quo ad sanationam: dubia.Kata kunci: tuberous sklerosis, nodul hiperpigmentasi multipel

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Clinically Relevant Imaging in Tuberous Sclerosis

Journal of Clinical Imaging Science ◽

10.4103/2156-7514.83230 ◽

2011 ◽

Vol 1 ◽

pp. 39 ◽

Cited By ~ 14

Author(s):

Rupa Radhakrishnan ◽

Sadhna Verma

Keyword(s):

Tuberous Sclerosis ◽

Autosomal Dominant ◽

Genetic Disorder ◽

Genetic Condition ◽

Multiple Organs ◽

Screening And Surveillance ◽

Regulate Cell Growth ◽

Organ Specific ◽

Clinical Changes ◽

The Brain

Tuberous sclerosis (TS), also known as Bourneville disease or Bourneville–Pringle disease, is an autosomal dominant genetic disorder classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. Both terms describe clinical changes due to mutations involving either of the two genes named TSC1 and TSC2, which regulate cell growth. The diagnosis of TSC is established using diagnostic criteria based on clinical and imaging findings. Routine screening and surveillance of patients with TSC is needed to determine the presence and extent of organ involvement, especially the brain, kidneys, and lungs, and identify the development of associated complications. As the treatment is organ specific, imaging plays a crucial role in the management of patients with TSC.

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TUBEROUS SCLEROSIS : ITS VARIED PRESENTATION

10.36106/paripex/1901465 ◽

2020 ◽

pp. 1-2

Author(s):

Puja D. Nandaniya

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Autosomal Dominant ◽

Benign Tumors ◽

Gingival Hyperplasia ◽

Oral Manifestations ◽

Enamel Hypoplasia ◽

Multiple Organs ◽

Neurocutaneous Syndrome ◽

The Brain

Tuberous sclerosis complex is an unusual autosomal dominant neurocutaneous syndrome characterized by the development of benign tumors affecting different body systems affecting the brain, skin, retina, and viscera. It is characterized by cutaneous changes, neurologic conditions, and the formation of hamartomas in multiple organs leading to morbidity and mortality. The most common oral manifestations are fibromas, gingival hyperplasia, and enamel hypoplasia. The management of these patients is often multidisciplinary involving specialists from various fields. Here, we present a case report of a 26-old-year male patient with characteristic clinical, radiological, and histological features of tuberous sclerosis complex.

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