Bilateral renal angiomyolipomas in tuberous sclerosis

Abstract Background Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign hamartomas in multiple organs of the body. Renal angiomyolipomas (AML) are commonly associated with TSC. They are mostly asymptomatic. But large and rapidly growing AMLs with the presence of an aneurysm cause symptoms and pose a life-threatening risk for hemorrhage. Case presentation Our patient is a 25-year-old female who presented to us as an undiagnosed case of tuberous sclerosis having a large abdominal mass. She fulfilled the clinical criteria required for the diagnosis of TSC. The CT scan revealed an 18 × 13 × 33 cm fat-containing lesion in the right kidney with an adjacent aneurysm measuring around 16 cm in diameter. Due to the large size of the AML and associated aneurysm, surgical exploration was mandated. On the contralateral kidney, multiple contrast-enhancing soft-tissue densities were present that appeared suspicious on radiology. So a percutaneous biopsy of those lesions was done. Fortunately, it had the same histopathology as an Angiomyolipoma. Nephrectomy of the right-sided kidney with AML has been done. The left-sided lesions that are less than 2 cm and asymptomatic are kept on close surveillance. Any change in size will prompt therapy with mTOR inhibitors. Conclusion When dealing with bilateral renal AML, it is important to adopt a conservative approach. When intervention is indicated, the least invasive strategy should be sought and enacted. Radical surgery should be the last resort.

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Giant cystic malignant pheochromocytoma invading right hepatic lobe: report on two cases

Sao Paulo Medical Journal ◽

10.1590/s1516-31802008000400008 ◽

2008 ◽

Vol 126 (4) ◽

pp. 229-231 ◽

Cited By ~ 10

Author(s):

Sergio Renato Pais Costa ◽

Nivaldo Marques Cabral ◽

Ademir Torres Abhrão ◽

Ricardo Borges da Costa ◽

Lilian Mary da Silva ◽

...

Keyword(s):

Abdominal Mass ◽

Radical Right ◽

Right Hepatectomy ◽

Hepatic Tumors ◽

Hepatic Lobe ◽

Multiple Organs ◽

Abdominal Masses ◽

Retroperitoneal Sarcomas ◽

The Right ◽

Radiological Methods

CONTEXT: Cystic pheochromocytomas are uncommon neuroendocrine tumors that originate from the adrenal medulla. Differing from the more frequent solid pheochromocytomas, which produce catecholamines and present adrenergic syndrome, cystic pheochromocytomas may not produce these. Their symptoms are generally associated with an abdominal mass or even pain, particularly if the mass attains large dimensions. Similarly, radiological diagnosis may also be difficult. Right-side lesions may be confounded with cystic hepatic tumors or even retroperitoneal sarcomas with cystic areas, using radiological methods. Sometimes, there may be a preoperative diagnosis of malignancy. Invasion of organs in this region (i.e. liver or kidney), or even the presence of a large retroperitoneal mass (of uncertain origin) with which multiple organs are involved, may be indicative of malignant origin. CASE REPORT: Two cases of giant cystic pheochromocytoma that invaded the right hepatic lobe are described. These presented as abdominal masses. Both cases were malignant. They were treated by radical right nephrectomy plus right hepatectomy.

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The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex

Cerebral Cortex ◽

10.1093/cercor/bhz233 ◽

2019 ◽

Vol 30 (4) ◽

pp. 2199-2214

Author(s):

Benoit Scherrer ◽

Anna K Prohl ◽

Maxime Taquet ◽

Kush Kapur ◽

Jurriaan M Peters ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Face Processing ◽

Genetic Disorder ◽

Neuropsychiatric Symptoms ◽

Autism Spectrum ◽

The Body ◽

Fusiform Gyrus ◽

Benign Tumors ◽

Anatomical Connectivity

Abstract Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors throughout the body; it is generally diagnosed early in life and has a high prevalence of autism spectrum disorder (ASD), making it uniquely valuable in studying the early development of autism, before neuropsychiatric symptoms become apparent. One well-documented deficit in ASD is an impairment in face processing. In this work, we assessed whether anatomical connectivity patterns of the fusiform gyrus, a central structure in face processing, capture the risk of developing autism early in life. We longitudinally imaged TSC patients at 1, 2, and 3 years of age with diffusion compartment imaging. We evaluated whether the anatomical connectivity fingerprint of the fusiform gyrus was associated with the risk of developing autism measured by the Autism Observation Scale for Infants (AOSI). Our findings suggest that the fusiform gyrus connectivity captures the risk of developing autism as early as 1 year of age and provides evidence that abnormal fusiform gyrus connectivity increases with age. Moreover, the identified connections that best capture the risk of developing autism involved the fusiform gyrus and limbic and paralimbic regions that were consistent with the ASD phenotype, involving an increased number of left-lateralized structures with increasing age.

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Giant adrenocortical carcinoma simulating a liver tumor

Annals of Clinical Oncology ◽

10.31487/j.aco.2019.01.02 ◽

2019 ◽

pp. 1-3

Author(s):

Aïcha Ben Miled ◽

Chadli Dziri ◽

Hichem Jerraya ◽

Ibtissem Bouasker ◽

Mohamed Ali ◽

...

Keyword(s):

Liver Tumor ◽

Adrenocortical Carcinoma ◽

Adrenal Tumor ◽

Abdominal Mass ◽

Percutaneous Biopsy ◽

Ultrasound Computed Tomography ◽

Costophrenic Angle ◽

Histological Factors ◽

The Right

Adrenocortical carcinoma is a rare malignant tumor which can reach large sizes if it is nonfunctioning. In that situation, it can pose diagnosis dilemmas regarding the origin and the nature of the tumor. We reported a case of non-secreting and large right Adrenocortical carcinoma which arose in the posterior costophrenic angle mimicking a liver tumor. A 45-year-old man presented with a voluminous abdominal mass in the right upper quadrant. The different imaging modalities including ultrasound computed tomography and magnetic resonance imaging were discordant as regards the hepatic or the adrenal origin of the tumor. Percutaneous biopsy allowed to determine the diagnosis of the cortico-adrenal tumor. The patient underwent laparotomy. The tumor which arose from the right adrenal gland was resected. Pathology confirmed the diagnosis of adrenocortical carcinoma with histological factors of poor prognosis. The patient was given Mitotane as adjuvant therapy. After six years of follow-up, a tumor recurrence has been diagnosed.

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Bizarre Radiographic Finding of Intraoral Neurofibroma: A Case Report

International Healthcare Research Journal ◽

10.26440/ihrj/02_04/183 ◽

2018 ◽

Vol 2 (4) ◽

pp. 92-97

Author(s):

Mayank Jain ◽

Saloni Deol Jain ◽

Priti Gupta

Keyword(s):

Case Report ◽

Genetic Disorder ◽

Radiographic Finding ◽

The Body ◽

Nerve Sheath Tumor ◽

Clinical Criteria ◽

Café Au Lait Spots ◽

Neural Origin ◽

Central Nervous Systems ◽

The Common

Neurofibroma(NF) is one of the common well known autosomal dominant inheritable entity with a prevalence of one per 3000 people. Clinically, there are two types of NF:NF 1 with 90% occurrence along with 7 subtypes and NF2. It is a genetic disorder and benign peripheral nerve sheath tumor. It has a neural origin with presence of café –au-lait spots along with multiple nodules over the skin and all over the body. It might be associated with bone malformation and sometimes the central nervous systems is also involved. Diagnosis of neurofibroma is based on clinical criteria. The frequency of oral manifestations is debated in the literature. Some authors report a frequency of 4-7% of cases, whereas others suggest that these manifestations are present in up to 72% of cases. Here the purpose of this case report is to review the disease with intraoral clinical and radiological findings found in a patient having a bizzare radiographic finding of Intraoral Neurofibroma (NF).

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Tuberous sclerosis with cardiac rhabdomyoma: a case report

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20170730 ◽

2017 ◽

Vol 4 (2) ◽

pp. 666

Author(s):

Sunita Arora ◽

Harnoorjit Kaur Brar ◽

Prabhjot Kaur Dhillon

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Genetic Disorder ◽

Clinical Manifestations ◽

Female Child ◽

The Body ◽

Cardiac Rhabdomyoma ◽

Cardiac Evaluation ◽

Benign Tumours ◽

High Index Of Suspicion

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a genetic disorder, caused by mutations on either of two genes TSC1 and TSC2. Clinical manifestations are caused by growth of benign tumours in different parts of the body. Ten months old female child with four major criteria of tuberous sclerosis complex and asymptomatic cardiac rhabdomyoma is presented. A case of TSC warrants cardiac evaluation for the presence of cardiac rhabdomyoma and if a cardiac rhabdomyoma is detected on antenatal ultrasound or postnatal echocardiography, one should have high index of suspicion for the diagnosis of TSC. Continued research on this disease has unfolded many realities regarding its etiology as well as treatment.

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Primary Orbital Liposarcoma in Li-Fraumeni Cancer Family Syndrome: A Case Report

Tumori Journal ◽

10.1177/030089160509100121 ◽

2005 ◽

Vol 91 (1) ◽

pp. 96-100 ◽

Cited By ~ 7

Author(s):

Tito Poli ◽

Francesco Laganà ◽

Luigi Caradonna ◽

Roberta Gobbi ◽

Domenico Corradi ◽

...

Keyword(s):

Molecular Analysis ◽

Genetic Disorder ◽

Molecular Profile ◽

Prognostic Information ◽

Upper Eyelid ◽

Li Fraumeni Syndrome ◽

Clinical Criteria ◽

Li Fraumeni ◽

Cellular Markers ◽

The Right

Aims and background The aim of this study was to describe a case of primary orbital liposarcoma in Li-Fraumeni syndrome. Methods and study design In July 1998 a 20-year-old woman with a histological diagnosis of orbital myxoid liposarcoma underwent surgical treatment in our department. Since the patient's family pedigree met the clinical criteria for the diagnosis of LFS, molecular analysis was performed, which resulted in a molecular profile consistent with Li-Fraumeni syndrome. Results The patient underwent orbital exenteration extended to the upper eyelid; surgical reconstructive steps were performed to permit placement of an orbital prosthesis. Two years after primary surgery the patient underwent a quadrantectomy with lymphadenectomy of the right axilla because of the presence of a nodule of 1.5 cm in diameter in the upper-lateral quadrant of the right breast. One year after the last surgery, the patient is disease free. Conclusion The diagnosis of an orbital malignancy in a young patient with a family history of cancer should suggest the presence of an underlying genetic disorder like LFS; with molecular analysis we can now determine the genetic disorder and the exact location of the mutation, and also obtain important prognostic data using specific cellular markers. More prognostic information increases the chances of adequate personalized treatment.

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Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine

Therapeutic Advances in Neurological Disorders ◽

10.1177/17562864211031100 ◽

2021 ◽

Vol 14 ◽

pp. 175628642110311

Author(s):

Susanne Schubert-Bast ◽

Adam Strzelczyk

Keyword(s):

Precision Medicine ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Targeted Therapies ◽

Genetic Disorder ◽

Treatment Options ◽

Clinical Syndrome ◽

Adjunctive Treatment ◽

Multiple Organs ◽

The Impact

Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by mutations in the TSC1 or TSC2 genes, which encode proteins that antagonise the mammalian isoform of the target of rapamycin complex 1 (mTORC1) – a key mediator of cell growth and metabolism. TSC is characterised by the development of benign tumours in multiple organs, together with neurological manifestations including epilepsy and TSC-associated neuropsychiatric disorders (TAND). Epilepsy occurs frequently and is associated with significant morbidity and mortality; however, the management is challenging due to the intractable nature of the seizures. Preventative epilepsy treatment is a key aim, especially as patients with epilepsy may be at a higher risk of developing severe cognitive and behavioural impairment. Vigabatrin given preventatively reduces the risk and severity of epilepsy although the benefits for TAND are inconclusive. These promising results could pave the way for evaluating other treatments in a preventative capacity, especially those that may address the underlying pathophysiology of TSC, including everolimus, cannabidiol and the ketogenic diet (KD). Everolimus is an mTOR inhibitor approved for the adjunctive treatment of refractory TSC-associated seizures that has demonstrated significant reductions in seizure frequency compared with placebo, improvements that were sustained after 2 years of treatment. Highly purified cannabidiol, recently approved in the US as Epidiolex® for TSC-associated seizures in patients ⩾1 years of age, and the KD, may also participate in the regulation of the mTOR pathway. This review focusses on the pivotal clinical evidence surrounding these potential targeted therapies that may form the foundation of precision medicine for TSC-associated epilepsy, as well as other current treatments including anti-seizure drugs, vagus nerve stimulation and surgery. New future therapies are also discussed, together with the potential for preventative treatment with targeted therapies. Due to advances in understanding the molecular genetics and pathophysiology, TSC represents a prototypic clinical syndrome for studying epileptogenesis and the impact of precision medicine.

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Aortic Thrombus Embolization in A Patient with Tuberous Sclerosis

Journal of Pediatric Neurology ◽

10.1055/s-0041-1739261 ◽

2021 ◽

Author(s):

Steven Wolf ◽

Andrew Rhoads ◽

William Gomes ◽

Philip Overby ◽

Patricia McGoldrick

Keyword(s):

Cerebral Infarction ◽

Tuberous Sclerosis ◽

Genetic Disorder ◽

Altered Mental Status ◽

Unknown Etiology ◽

Benign Tumors ◽

Organ Systems ◽

Aortic Thrombus ◽

History Of ◽

The Right

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting many organ systems. Patients commonly develop a variety of benign tumors as well as neurological disease, including seizures, autism, and cognitive delay. We report here the case of an adolescent patient with TSC and a history of mild COVID-19 who presented with a 1-day history of altered mental status. The patient was found to have ischemic cerebral infarction of the right MCA and ACA territories. Initial angiography showed an occlusion of the right internal carotid artery without a demonstrable etiology, with follow-up echocardiography and angiography revealing a large aortic thrombus. The patient was not a candidate for thrombus removal due to her cerebral infarct and received medical anticoagulation. Thrombosis progressed to involve the left ICA, with left cerebral infarction and subsequent death. Aortic thrombus embolization as a cause of cerebrovascular accident (CVA) is a novel finding in the setting of TSC and should be considered for pediatric patients with CVA of unknown etiology. It is unclear whether this was related to the prior COVID-19 infection.

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Renal Medullary Cancer in a Patient with Sickle Cell Trait

Case Reports in Oncological Medicine ◽

10.1155/2013/129813 ◽

2013 ◽

Vol 2013 ◽

pp. 1-4

Author(s):

Narendrakumar Alappan ◽

Creticus P. Marak ◽

Amit Chopra ◽

Parijat S. Joy ◽

Olena Dorokhova ◽

...

Keyword(s):

Sickle Cell ◽

Sickle Cell Trait ◽

Abdominal Mass ◽

Young Patients ◽

Time Frame ◽

The Body ◽

Medullary Cancer ◽

Rare Malignancy ◽

The Right ◽

High Index Of Suspicion

Renal medullary cancer is a rare malignancy almost exclusively seen in young patients of African ethnicity. These patients often present with the cardinal symptoms of hematuria, flank pain, and an abdominal mass, and this malignancy has been associated with patients carrying sickle cell trait. It is estimated that 300 million people worldwide carry sickle cell trait, and the presence of hematuria in these patients should be treated as a harbinger of a possible malignancy. Notably, this tumor mostly develops on the right side of the body. Patients often present with it at an advanced stage and the prognosis is poor. Therefore, a high index of suspicion in a patient of African descent presenting with a right sided abdominal mass and hematuria may assist in an early diagnosis. Current chemotherapy options are very limited, and early detection may provide a chance for surgical resection. It may also provide a bigger time frame for the initiation of novel chemotherapy regimens in patients who fail current chemotherapy regimens.

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Subependymal Giant Cell Astrocytoma without Clinically or Genetically Identifiable Tuberous Sclerosis Complex: A Case Report

10.31487/j.crss.2020.02.03 ◽

2020 ◽

pp. 1-4

Author(s):

Christopher J. Farrell ◽

Karim Hafazalla ◽

Donald Y. Ye ◽

Timothy Chao ◽

Mark Curtis ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Giant Cell ◽

Clinical Features ◽

Tuberous Sclerosis Complex ◽

The Body ◽

World Health ◽

Subependymal Giant Cell Astrocytoma ◽

Foramen Of Monro ◽

Clinical Criteria ◽

Giant Cell Astrocytoma

Background: Subependymal giant cell astrocytoma (SEGA) is a World Health Organization grade I tumor most commonly located in the lateral ventricles near the foramen of Monro. They are primarily associated with tuberous sclerosis complex (TSC), an autosomal dominant inherited condition that leads to a variety of tumors throughout the body. TSC must be diagnosed via either genetic criteria or clinical criteria. Cases of SEGA in patients without both genetically or clinically identifiable TSC are scarce, with only two instances identified of those genetically screened in the literature. We describe what we believe is only the third such case, a 22-year-old patient with no other clinical or genetic indicators for tuberous sclerosis. Case Description: The patient is a 22-year-old Caucasian female who experienced progressive symptoms of headaches, tinnitus and visual obscuration. A magnetic resonance imaging study of the brain revealed a homogeneously enhancing mass in the right lateral ventricle with obstruction of the foramen of Monro. The patient underwent a right frontal craniotomy for transcortical-transventricular resection of the mass. Histologic examination of the tumor revealed a diagnosis of SEGA. Germline genetic tests for both TSC1 and TSC2 were negative, and no additional clinical features were present. The patient was thus not felt to meet the criteria for a diagnosis of TSC based on the absence of clinical features, family history, and negative genetic testing. Conclusion: Although a rare phenomenon, SEGA should remain on the differential diagnosis for patients with newly found periventricular tumors and absence of TSC clinical features.

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