MATERNAL TUBEROUS SCLEROSIS WITH FETAL CARDIAC RHABDOMYOMA – A CASE REPORT

2021 ◽  
pp. 28-30
Author(s):  
Disha Rama Harikanth ◽  
Manjushri Waikar
Keyword(s):  
Tuberous Sclerosis ◽  
Autosomal Dominant ◽  
Monitoring And Evaluation ◽  
Fetal Outcome ◽  
Multiple Organ ◽  
Careful Monitoring ◽  
Cardiac Rhabdomyoma ◽  
Organ Systems ◽  
Neurocutaneous Disorder ◽  
Life Threatening

Tuberous sclerosis is a multisystemic, autosomal dominant neurocutaneous disorder of hamartoma formation affecting multiple organ systems and hence adversely affecting the maternal and fetal outcome. We report a case of maternal tuberous sclerosis with fetal cardiac rhabdomyoma detected in utero at 22 weeks but presented at 39 weeks of gestation. We conclude that Maternal or Fetal tuberous sclerosis deserves careful monitoring and evaluation so that the patients can be counselled regarding its life threatening complications to the baby and make informed decision regarding continuation of pregnancy

scholarly journals A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Shunzhi He ◽  
Na Lv ◽  
Hongchu Bao ◽  
Xiong Wang ◽  
Jing Li
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Diagnosis ◽  
Missense Variant ◽  
Sporadic Case ◽  
Hereditary Disease ◽  
Multiple Organ ◽  
Cardiac Rhabdomyoma ◽  
Pathogenic Variants ◽  
Organ Systems

Abstract Background Tuberous sclerosis complex (TSC) is an autosomal-dominant hereditary disease characterized by hamartomas of multiple organ systems, including the brain, skin, heart, kidney and lung. Genetically, TSC is caused by pathogenic variants in the TSC1 or TSC2 gene. Case presentation We reported a sporadic case of a 32-year-old Han Chinese male diagnosed with TSC, whose spouse had a history of two spontaneous miscarriages and an induced abortion of a 30-week fetus identified with cardiac rhabdomyoma by ultrasound. A novel heterozygous missense variant in the TSC2 gene (Exon35:c.4511 T > C:p.L1504P) was identified in the male patient and the aborted fetus by next-generation sequencing, but not in his wife or both his parents. According to the ACMG/AMP criteria, this variant was classified as a “likely pathogenic” variant. Conclusion The novel TSC2:c.4511 T > C variant identified was highly likely associated with TSC and could potentially lead to adverse reproductive outcomes. IVF-ET and pre-implantation genetic diagnosis for TSC are recommended for this patient in the future to prevent fetal TSC.

Tuberous Sclerosis in a 19-Week Fetus: Immunohistochemical and Molecular Study of Hamartin and Tuberin

2002 ◽  
Vol 5 (5) ◽  
pp. 448-464 ◽  
Author(s):  
Jianjun Wei ◽  
Peng Li ◽  
Luis Chiriboga ◽  
Masashi Mizuguchi ◽  
Herman Yee ◽  
...  
Keyword(s):  
Gene Expression ◽  
Tuberous Sclerosis ◽  
Gestational Age ◽  
Cellular Localization ◽  
Germ Line ◽  
Molecular Study ◽  
Multiple Organ ◽  
Developmental Expression ◽  
Cardiac Rhabdomyoma ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetically heterogeneous disease caused by mutations of TSC1 or TSC2 genes. It involves multiple organ systems resulting in mild to lethal hamartoma formation due to gene mutation in the germ line and loss of heterozygosity (LOH) in somatic cells. Hamartin ( TSC1) and tuberin ( TSC2) are expressed broadly. However, little is known about tissue susceptibility to hamartomas when equal or similar amounts of TSC gene expression are present. In this study, we present a 19-week gestational age fetus with pathological features of TSC, which was confirmed by finding LOH of TSC2 in a cardiac rhabdomyoma. Developmental expression of hamartin and tuberin in the TSC fetus, an age-matched non-TSC fetus, and a 26-week gestational age non-TSC fetus were analyzed by immunohistochemistry. We found that in addition to the differential expression of the TSC genes in some normal tissues compared with that in the TSC-affected fetus, the cellular localization and distribution of hamartin and tuberin were dramatically different in different tissues. In general, hamartin and tuberin are mainly expressed in epithelial cells, myocytes, and neural tissues. By comparing the incidence of the hamartomas in early childhood and gene expression in tissues, it appears that tissues with co-expression of hamartin and tuberin are prone to a higher incidence of hamartomas than those expressing only one protein, or two proteins but in different patterns of cellular localization.

scholarly journals Familial Tuberous Sclerosis: a case report

2016 ◽  
Vol 2 (3) ◽  
pp. 53
Author(s):  
Gajanan A. Surwade ◽  
Uddhav S. Khaire ◽  
Sagar P. Patil ◽  
Mamta K. Mulay ◽  
Mangala S. Borkar
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Multiple Organ ◽  
Benign Tumors ◽  
Gingival Hyperplasia ◽  
Gene Encoding ◽  
Cardiac Rhabdomyoma ◽  
Pulmonary Lymphangioleiomyomatosis ◽  
Organ Systems ◽  
Neurocutaneous Syndrome

<p class="abstract"><span lang="EN-US">Tuberous sclerosis is a neurocutaneous syndrome with an autosomal dominant inheritance. Tuberous sclerosis complex Syndrome caused by mutations of either the TSC1 orTSC2 gene encoding hamartin and tuberin respectively. It is characterized by the development of benign tumors; the most common oral manifestations of TSC are fibromas (angiofibromas), gingival hyperplasia and enamel hypoplasia and the formation of hamartomas in multiple organ systems leading to morbidity and mortality. Familial tuberous sclerosis probably occurs more often than is indicated by the literature: many family members show signs of being carriers of gene for the disease when carefully examined. We report a case of 25 year old female with the features of Tuberous sclerosis complex like seizures, papules over the cheek, shagreen patch, hypomelanotic macule on arm, buttacks, pulmonary lymphangioleiomyomatosis, subependymal nodules and tubers in brain, angiomyolipoma in both kidneys and Cardiac rhabdomyoma. This article reports on a family with documented tuberous sclerosis in three generations.</span></p>

Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidarth Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

scholarly journals Two Cases of Tuberous Sclerosis With Multiple Rhabdomyoma Succumbing to Sudden Cardiac Death

2021 ◽  
pp. 263246362110124
Author(s):  
Manjappa Mahadevappa ◽  
Vikram Patil ◽  
K.S. Poornima ◽  
Sowmya Velamala ◽  
B.V. Guruprasad
Keyword(s):  
Sudden Cardiac Death ◽  
Tuberous Sclerosis ◽  
Cardiac Arrhythmias ◽  
Cardiac Death ◽  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
Specific Treatment ◽  
Organ Systems ◽  
Dominant Condition ◽  
Variable Penetrance

Tuberous sclerosis complex is an autosomal dominant condition with variable penetrance. It is characterized by tuberose deposits in various organ systems. Although clinical features predominate neurocutaneous manifestations, cardiac, kidney, and lung involvement are common. Cardiac involvement is marked by the presence of multiple rhabdomyomas and in some cases arrhythmias. In the absence of symptoms, rhabdomyomas require no specific treatment. However, cardiac arrhythmias are unpredictable and may be the cause of sudden cardiac death in some cases. Although treatment is mainly symptomatic, drugs like rapamycin have shown promise in the regression of astrocytomas and angiofibromas. Here, we are reporting two cases of tuberous sclerosis of which one succumbed to arrhythmias and the other to possible sudden cardiac death.

URIC ACID LEVEL AS A PREDICTOR OF SEVERITY IN PREGNANT WOMEN WITH SEVERE PREECLAMPSIA

2021 ◽  
pp. 327-331
Author(s):  
Natasya Natasya ◽  
Fidel Ganis Siregar ◽  
Ratna Akbari Ganie
Keyword(s):  
Developing Countries ◽  
Uric Acid ◽  
Pregnant Women ◽  
Acid Level ◽  
Developed Countries ◽  
Multiple Organ ◽  
Live Births ◽  
Obstetric Emergency ◽  
Organ Systems ◽  
Life Threatening

Preeclampsia is a pregnancy syndrome affecting multiple organ systems, characterized by hypertension and proteinuria after 20 weeks of gestation. The incidence of preeclampsia is estimated to be 3-10% of pregnancies worldwide and is the leading cause of death for pregnant women. Preeclampsia is a life-threatening obstetric emergency, so it needs prompt and precise treatment to prevent morbidity and mortality. WHO estimates that the incidence of preeclampsia is seven times higher in developing countries (2.8% of live births) than in developed countries 1,2 (0.4%).

scholarly journals Thyroid Storm and Complete Heart Block after Treatment with Radioactive Iodine

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Kaitlyn Vennard ◽  
Matthew P. Gilbert
Keyword(s):  
Heart Block ◽  
Radioactive Iodine ◽  
Radioiodine Therapy ◽  
Complete Heart Block ◽  
Multiple Organ ◽  
Thyroid Storm ◽  
Metabolic Abnormalities ◽  
Organ Systems ◽  
Life Threatening ◽  
Life Threatening Complication

Thyroid storm is a rare endocrine emergency characterized by dysfunction of multiple organ systems. Thyroid storm is more common in Graves’ disease and can be precipitated by surgery, trauma, infection, metabolic abnormalities, iodine load, and parturition. We present a diagnostically challenging case of thyroid storm precipitated by radioiodine therapy and accompanied by bradycardia, a rare but life-threatening complication related to treatment for hyperthyroidism.

scholarly journals The Indirect Implication of SARS-CoV-2 Resulting in Kayexalate Toxicity in a Patient with Acute Kidney Injury

2021 ◽  
Vol 5 (1) ◽  
pp. 6-13
Author(s):  
Charles E. Middleton IV ◽  
William Daley ◽  
Neha Varshney
Keyword(s):  
Acute Kidney Injury ◽  
Virus Disease ◽  
Severe Disease ◽  
Kidney Injury ◽  
Multiple Organ ◽  
Subsequent Treatment ◽  
Gastrointestinal Complications ◽  
Treatment Regimens ◽  
Organ Systems ◽  
Life Threatening

The clinical features of corona virus disease 2019 (COVID-19) are variable, but the majority of patients experience mild flu-like symptoms. The cases of severe disease include complications such as progressive pneumonia, acute kidney injury, multi-organ failure, and even death. This paper explores the association between COVID-19 and its effect on multiple organ systems and how the subsequent treatment of this disease can itself lead to morbidity and mortality. We present a case which emphasizes the life threatening gastrointestinal complications associated with treatment of acute kidney injury (AKI) in a patient with COVID-19. We conclude that the patients whose treatment regimens utilize medical resins should be closely monitored for gastrointestinal complications so as to mitigate the known adverse effects associated with these drugs, such as colonic mucosal ulceration, perforation, or even death.

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex

2019 ◽  
Vol 20 (1) ◽  
pp. 217-240 ◽  
Author(s):  
Catherine L. Salussolia ◽  
Katarzyna Klonowska ◽  
David J. Kwiatkowski ◽  
Mustafa Sahin
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Phenotypic Variability ◽  
Mtor Inhibitors ◽  
Multiple Organ ◽  
Great Promise ◽  
Optimal Timing ◽  
Autosomal Dominant Disorder ◽  
Organ Systems ◽  
Neuropsychiatric Manifestations

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the hyperactivation of the mechanistic target of rapamycin (mTOR) pathway. Dysregulated mTOR signaling results in increased cell growth and proliferation. Clinically, TSC patients exhibit great phenotypic variability, but the neurologic and neuropsychiatric manifestations of the disease have the greatest morbidity and mortality. TSC-associated epilepsy occurs in nearly all patients and is often difficult to treat because it is refractory to multiple antiseizure medications. The advent of mTOR inhibitors offers great promise in the treatment of TSC-associated epilepsy and other neurodevelopmental manifestations of the disease; however, the optimal timing of therapeutic intervention is not yet fully understood.

scholarly journals Lactulose to the Rescue: A Case of Toxic Hepatic Encephalopathy Caused by Portosystemic Shunting and Epistaxis in a Patient with Hereditary Hemorrhagic Telangiectasia

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Ruchit N. Shah ◽  
Michael Makar ◽  
Nasir Akhtar ◽  
Erin Forster
Keyword(s):  
Hepatic Encephalopathy ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Rare Complication ◽  
Multiple Organ ◽  
Autosomal Dominant Disorder ◽  
Life Saving ◽  
Organ Systems ◽  
Portosystemic Shunting

Hereditary hemorrhagic telangiectasia (HHT) is an uncommon autosomal dominant disorder characterized by telangiectasias and arteriovenous malformations. Multiple organ systems are involved including the skin, lungs, gastrointestinal tract, and brain. Hepatic encephalopathy is an extremely rare complication of HHT and early diagnosis and treatment can be life-saving. We present a rare case of hepatic encephalopathy caused by HHT-induced portosystemic shunting treated with lactulose.

Sign in / Sign up

Export Citation Format

Share Document