Clinical Manifestation, Surveillance, and Complication in Tuberous Sclerosis Complex in Dr. Moewardi Hospital

Hamidi, Baarid Luqman
Mirawati, Diah Kurnia
Danuaji, Rivan
Subandi, Subandi
Budianto, Pepi
Hambarsari, Yetty
Prabaningtyas, Hanindya

Indonesian Journal of Medicine
Vol 5, No 1 (2020)

Background: Tuberous Sclerosis Complex (Bour­neville’s disease) is genetic disorder with autosomal pattern of heritence that affecting differentiation sellular in many organ such as brain, lungs, cardiac with varible severity. Birth incidence is estimated to be 1:6000. The purpose of this study was to reported a case of patients with Bourneville’s disease (tuberous sclerosis complex) in Moewardi Hospital. Also reported surveillance and complication in this patient.Case Presentation: A male, 18 yearsold, with seizures, onset from infancy, tonic secondary generalized seizure pattern simultaneously throug­h­out the body. Neurologic status exami­nation found right hemiparese and mental re­tarda­tion, Encountered in patients with skin disorders such as butterfly appearance with facial angiofibroma, forehead fibrous plaque dan shar­green patch. Abnormalities also appeared in the oral mucosa as multiple papules. When psych­ological tests patient had difficulty following instructions. Psychiatric examination showed mode­rate lower intelegence. EEG results slow waves at left parietal, there is severe electro­fisio­logic abnormality considered structural lesi­on in left parietal. CT showed multiple calci­fied nodul­es in subependymal right and left lateral ventri­cle. MRI showed  atrophy and left sclerotic hip­po­campus with glosis in sub cortex occipito left parietal. To overcome the seizure patients given Carbamazepine. There was in­creas­ing of trans­aminase enzim, liver suspect liver angio­myo­lipoma.Conclusion: Based on clinical criteria for definite tuberous sclerosis complex patients met the criteria. The patients responded positively to carbamazepine that reduced seizure frequency. But somehow, patient's prognosis is worst. Pre­sence of intellectual impairment and neuro­psy­chiatric problems is a potential poor epilepsy control, and liver disfunction so that the necessa­ry comprehensive management and surveillance involves other disciplines.Keywords:Tuberous sclerosis complex, con­genital disorder, epilepsy, mental retardationCorrespondence: Baarid Luqman Hamidi.Department of Neuro­logy, Dr. Moewardi Hospital/Faculty of Medi­cine, Universitas Sebelas Maret. Email: ba­arid@­staff.uns.ac.idIndonesian Journal of Medicine (2020), 05(01): 47-51https://doi.org/10.26911/theijmed.2020.05.01.07