Clinical Manifestation, Surveillance, and Complication in Tuberous Sclerosis Complex in Dr. Moewardi Hospital (original) (raw)
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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 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...
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-...
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.
Review of Tuberous Sclerosis Complex: A Single Center Experience
The Journal of Pediatric Research, 2021
The aim of this study is to review the clinical features and treatment of tuberous sclerosis complex patients followed up in our hospital and to compare our findings with the literature. Materials and Methods: The clinical-laboratory findings and treatment of 15 tuberous sclerosis patients who presented at a child neurology policlinic between 2007-2017 were retrospectively reviewed. Results: Fifteen patients aged between 8 months and 17 years were included in the study. The female/male ratio was 47%/53%. Thirteen patients (86%) were referred with convulsions, 1 (7%) with skin hypo-pigmented macule and 1 (7%) with the detection of a renal cyst in ultrasonography. At the time of diagnosis, skin findings were present in 93% of the patients. There were infantile spasms in 23%, focal seizures in 54%, generalized tonic-clonic in 15% and atonic seizures in 8% of those patients who referred with seizures. In addition to the known antiepileptics in treatment, mTOR inhibitors were used in two patients. Forty percent were diagnosed with resistant epilepsy. Seven of the patients (46%) had various levels of mental retardation. There were cardiac findings in 33%, ocular findings in 33%, and renal involvement in 27% of the patients. The most common (87%) neuroradiologic finding was subependymal nodule. Conclusion: It was observed that the signs and symptoms of our patients were compatible with the literature. In childhood, refractory epilepsy and mental retardation were the most important clinical findings. The age of onset of seizures in patients with resistant epilepsy was under one year of age. These patients had infantile spasms and a larger number of cortical tubers in cranial magnetic resonance imaging findings. It was observed that everolimus treatment had no marked effect on seizure frequency. However, patients with tuberous sclerosis should be closely monitored for the development of malignancies in the long term and this monitoring should be continued in adulthood.
Management of epilepsy in tuberous sclerosis complex
2014
Abstract: Seizures are clinically significant manifestations associated with 79%–90% of patients with tuberous sclerosis complex. Read this review and sign up to receive Neuropsychiatric Disease and Treatment journal here: http://www.dovepress.com/articles.php?article\_id=18891
Tuberous sclerosis complex (TSC) is an important neurocutaneous syndrome to diagnose because of its phenotypic variability and the often serious nature of its manifestations. The pure neurological form of STB is rare in clinical practice. We report here a recent case of tuberous sclerosis with pure neurological symptomatology in a Senegalese child. This was a 2-year-old child with no prior personal history except for a delayed psychomotor development. No family history had been reported. He was received in neuropediatric consultation for partial motor seizures secondarily generalized for 15 months. The neurological and neuropsychological examination showed a mild cognitive deficit and a bilateral pyramidal syndrome. Despite complet clinical evaluation, there was no dermatological lesion. The rest of the clinical examination was strictly normal. The diagnosis of tuberous sclerosis has been made on the basis of neurological manifestations (refractory epileptic seizures), age of the patient, and characteristics of brain imagery and absence of other cause that can justify his illness. The patient was stabilized by carbamazepine and clonazepam. The evolution after 4 months was favorable with a rarefaction of the crises and the decrease of their intensities. Tuberous sclerosis must be evoked before any child with seizures refractory to the usual treatment. Early diagnosis helps to improve management and to consider genetic counseling within the family.
The Journal of Medical Research, 2015
Background: Tuberous sclerosis complex is a neurocutaneous syndrome inherited as autosomal dominant manner. It presents with CNS, dermatological manifestations and other systemic involvement. Methods: A case of male adolescent of 13 years age who presented in tertiary care OPD with strong family history of intellectual disability. The history obtained from his parents and necssary investigation work up has been done. A multidisciplinary team examined the patient and some unique features has been obtained. Results: The uniqueness of the case is it presents with profound intellectual disability, there is difficult to treat epilepsy due to combination of complex partial seizure with secondary generalization and myoclonus, eating disorder in the form of pica has been noted, spreading leg infection raises the possibility of child abuse and neglect. Conclusions: The appropriate treatment approach lies in judicious history taking. Parental counseling, the safety of patient should get the p...
Factors affecting epilepsy prognosis in patients with tuberous sclerosis
Childs Nervous System, 2019
Purpose We aimed to determine the characteristics of epileptic seizures that significantly affect the cognitive functions of 83 patients followed with tuberous sclerosis complex (TSC), their resistance to treatment and risk factors causing this resistance. Materials-methods In order to determine the prognosis, the seizure-free/seizure-controlled group and the group with refractory seizures were compared. In addition, risk factors affecting cognitive functions in the patients were determined. Results There was a statistical significance between the presence of a history of seizures in the neonatal period, the age of onset of seizures being less than 2 years of age, autism, status epilepticus, Lennox-Gastaut syndrome (LGS), presence of infantile spasm, generalization of the electroencephalography (EEG) findings, the number of tubers in cerebral imaging being more than three and refractory seizures (p < 0.05). Statistically significant relationship was found between presence of a history of seizures in the neonatal period, the age of onset of seizures, autism, LGS, presence of infantile spasm, presence of status epilepticus history, history of using more than three antiepileptic drugs, generalization of EEG findings, presence of SEGA in cerebral imaging, number of tubers being more than three and the patient's mental retardation (p < 0.05). Conclusion In logistic regression analysis, the age of the seizure onset being less than 2 years of age, the presence of autism and number of tubers being more than three in cerebral magnetic resonance imaging (MRI) are determined to be the risk factors that most likely to increase the seizures to be more resistant.