Tuberous sclerosis- A case report (original) (raw)
Related papers
Tuberous sclerosis complex: clinical spectrum and epilepsy: a retrospective chart review study
Translational Neuroscience
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population. This was a retrospective chart review study of 88 patients diagnosed with TSC with or without epilepsy. In 38.6% of patients, symptoms began before 1 year of age. The most frequent initial manifestations of TSC were new onset of seizures (68.2%), skin manifestations (46.6%) and development delay (23.9%). During the evolution of the disease 65.9% had epilepsy, 17% facial angiofibromas, 13.6% Shagreen patch, 18.2% heart rhabdomyomas and 12.5% retinal hamartomas. The genetic study for TSC diagnosis was done for 44 patients, 42 (95,4%) of them were genetically confirmed, for whom 13 patients had TSC1 mutation (29.5%), 29 patients were carrying TSC2 gene mutation (65.9%), Genetic test for TSC 1 and TSC 2 were negative for 2 patients (4.5%) despite positive...
Case report on tuberous sclerosis: a rare cause of seizure
International Journal of Research in Medical Sciences
We report a case of tuberous sclerosis in a 19 years old teenage patient with generalized tonic-clonic seizure. MRI brain showed linear CSF filled structure with surrounding gliosis extending from the frontal horn of right lateral ventricle to the pial surface of right frontal lobe-postoperative change. Multiple small T2/ FLAIR hyper-intensities without diffusion restriction in bilateral frontal temporal parietal and left occipital lobes, predominantly involving the cortex and sub-cortical white matter and small focus of calcification in left parietal peri-ventricular white matter. He was treated with valproic acid, sodium valproate and levetiracetam and showed prompt improvement. Epilepsy in tuberous sclerosis complex is a group of genetic disorders manifesting in childhood. Secondary causes of tuberous sclerosis should be suspected when there is abrupt onset in adulthood. The case highlights an uncommon case of epilepsy in tuberous sclerosis in young adult patient.
Tuberous Sclerosis as a cause of difficult-to-control Epilepsy - Case report
The Gazette of Medical Sciences, 2020
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.
Tuberous Sclerosis: A Patient who presented with Fits
Journal of Rawalpindi Medical College, 2019
Tuberous sclerosis is an autosomal dominant genetic disease that causes benign lesions in various organs such as the kidneys, heart, liver, eyes, lungs, and skin.1 The pathogenesis of this disease involves mutation of either gene TSC1 or gene TSC2, that code protein hamartin and tuberin respectively. These genes play an important role in suppression of tumor growth.2 Patients with tuberous sclerosis present with variety of symptoms that include seizures, intellectual disability, developmental delay, behavioral disorders, skin, lung and kidney lesions; it accounts to be the most common genetic cause of epilepsy.3 The diagnosis of tuberous sclerosis is made on the presence of major and minor criteria (detailed in table I) which are then analyzed to produce a definite or possible diagnosis. 1) Definite diagnosis: Two major features or one major feature with ≥2 minor features. 2) Possible diagnosis: Either one major feature or ≥2 minor features.4 Here we present a case of tuberous scler...
Spectrum of epilepsy in tuberous sclerosis
Neurology India, 2004
Tuberous sclerosis (TS) is an autosomal dominant disease that affects the brain, skin, eye, heart and kidney. The diagnostic criteria for tuberous sclerosis complex (TSC) have recently been revised. There are relatively few Indian studies on this disorder. Twenty-six patients diagnosed as having TS over a period of 18 years are being reported. The onset of seizures ranged from infancy to adolescence. The patterns of epilepsy encountered were generalized tonic clonic seizures (13), complex partial seizures (10), simple partial seizures (9) and myoclonic jerks (4) including infantile spasms (3). Patients often had more than one seizure type. Nineteen patients were mentally subnormal. Cutaneous manifestations were facial angiofibroma i.e. adenoma sebaceum (20), shagreen patches (7), hypopigmented macules (6), ash leaf spots (4), café-au-lait spots (2), facial hypoplasia (2) and periungual fibromas (1). One patient each had retinal phakoma and renal angiomyolipoma. CT scan revealed sub-...
Tuberous Sclerosis Complex – a Multidisciplinary Conundrum: Case Reports
Medicina Moderna - Modern Medicine, 2020
Introduction: Tuberous sclerosis complex (TSC) is a genetic disorder with a heterogenous clinical phenotype, with possible involvement of virtually any organ. Although recent advancement in genetics has allowed a better understanding of the pathophysiology of TSC, enabling a genetic diagnosis, TSC is primarily diagnosed on clinical grounds. Neurological manifestations amount to over 90% of people with TSC. Ensuing surveillance and treatment of TSC imply a multidisciplinary team of specialists. Case reports: We report 2 cases of TSC, both admitted to our Neurology Department on account of poor seizure control. One was diagnosed early in his infancy having a typical onset with infantile spasms and subsequent generalised seizures whereas the other was diagnosed with TSC in our department, at 56 years of age. They both also have skin and renal involvement as major clinical features. Conclusion: Recognition of the clinical hallmarks of TSC, albeit variable, is important for early diagnosis and subsequent multidisciplinary management. Neurological involvement, as illustrated in our case reports, is frequent and is largely responsible for morbidity and mortality in TSC.
International Journal of Research in Medical Sciences, 2014
Tuberous Sclerosis Complex (TSC) is a neurocutaneous disorder characterised by hamartoma formation in multiple organs, particularly the skin, brain, eye, kidney and heart. It is rare for TSC to manifest as intractable seizures without cutaneous manifestations. Targeted history elicitation along with appropriate systemic examination backed by proper investigations in high index of suspicion is mandatory to diagnose a case of TSC in such scenario. We report such a case where a 27 year old male was diagnosed with TSC following admission with refractory seizures.
Clinical and Para clinical Manifestations of Tuberous_Sclerosis.pdf
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disease that presents with dermatological, neurological, cardiac, renal and ocular symptoms. We described the variable clinical manifestations, neuroimaging findings, Age and sex distribution of tuberous sclerosis in a group of 81 patients referred to our clinic.
Tuberous Sclerosis Complex: case report of a patient with epilepsy and chronic kidney disease
2020
Introduction Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a variable clinical presentation and severity. It is a multisystem disease, characterized by hamartomas in various organs, often involving the skin and central nervous system. TSC affects around one in every 6,000 to 10,000 people with equal distribution among sex and ethnic groups. Cutaneous involvement is the most striking finding, enabling early diagnosis and intervention in such cases [1]. However, it has a great phenotypical variability making it difficult to recognize in some instances [2].
Clinical Presentations of Tuberous Sclerosis Complex: Two Case Reports
2015
Tuberous sclerosis complex (TSC) which is also known as Bourneville Disease, cerebral sclerosis, epiloia, sclerosis tuberose or simply tuberose sclerosis is a rare genetic disorder which presents as benign growths in skin, brain and other viscera resulting in severe developmental, behavioural and systemic abnormalities. Virtually all the patients with TSC will show skin growths of variable sizes. Those children who manifest the skin lesions early in life also have history of seizures. The name tuberous sclerosis comes from the characteristic tuber or potato-like nodules in the brain, which calcify with age and become hard or sclerotic. This disorder has been known to exist ever since it was diagnosed by French physicians about a century back when it was known as epiloia or Bourneville Disease. Vogt in 1880 described the classical triad of mental retardation, intractable seizures and delayed development 1 Quite a few of the TSC patients show evidence of the disorder in the early year...