E-ISSN 2534-9821
 

Case Report 


Epilepsy in Bourneville-Pringle disease: A case report

Saktivi Harkitasari, I Made Oka Adnyana, Anna Marita Gelgel, Ni Made Linawati, Tjokorda Gde Bagus Mahadewa, Sri Maliawan.

Abstract
Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome characterised by the formation of hamartomatous lesions in multiple organs systems. Patients develop hamartomas of the brain, kidneys, heart, lungs, skin, and eyes. Due to the wide phenotypic variability, the disease is often not recognised. This disease was classically described as presenting in childhood with a Vogt’s triad of seizures, mental retardation, and cutaneous lesions. This case report provides a clinicians information about the underlying disease of epilepsy. We report a case of an 18-year-old female presenting as tonic seizures and learning difficulty. The physical examination showed multiple dental pits and café-au-lait spots. An IQ test revealed moderate mental retardation. An electroencephalogram showed sharp waves in the temporal region. A head CT scan revealed cerebral oedema. A skin biopsy showed benign cutaneous tumours in the dermis consisting of Schwann cell proliferation with a wavy nucleus and fibroblast proliferation. The patient had been treated with an anti-epileptic drug. The ethiopathogenesis suggests a mutation of the two anti-oncogenes TSC1 and TSC2 which code for hamartin and tuberin proteins. The final diagnosis of this disease requires two major criteria or a major and two minor criteria, as described by Gomez. Our patient presents the major criteria of neurofibroma and two minor criteria of multiple dental pits and “confetti” skin lesions. Bourneville-Pringle disease is a rare disease. Our study has confirmed this because it is the first case seen in the Neurology department. Seizures are one clinical manifestation of this disease. Clinicians must provide a brief clinical examination in every seizure symptoms.

Key words: Epilepsy, Seizure, Bourneville-Pringle Disease


 
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How to Cite this Article
Pubmed Style

Harkitasari S, Adnyana IMO, Gelgel AM, Linawati NM, Mahadewa TGB, Maliawan S. Epilepsy in Bourneville-Pringle disease: A case report. Int J Med Rev Case Rep. 2020; 4(11): 41-46. doi:10.5455/IJMRCR.BOURNEVILLE-PRINGLE-DISEASE


Web Style

Harkitasari S, Adnyana IMO, Gelgel AM, Linawati NM, Mahadewa TGB, Maliawan S. Epilepsy in Bourneville-Pringle disease: A case report. https://www.mdpub.net/?mno=98667 [Access: December 05, 2023]. doi:10.5455/IJMRCR.BOURNEVILLE-PRINGLE-DISEASE


AMA (American Medical Association) Style

Harkitasari S, Adnyana IMO, Gelgel AM, Linawati NM, Mahadewa TGB, Maliawan S. Epilepsy in Bourneville-Pringle disease: A case report. Int J Med Rev Case Rep. 2020; 4(11): 41-46. doi:10.5455/IJMRCR.BOURNEVILLE-PRINGLE-DISEASE



Vancouver/ICMJE Style

Harkitasari S, Adnyana IMO, Gelgel AM, Linawati NM, Mahadewa TGB, Maliawan S. Epilepsy in Bourneville-Pringle disease: A case report. Int J Med Rev Case Rep. (2020), [cited December 05, 2023]; 4(11): 41-46. doi:10.5455/IJMRCR.BOURNEVILLE-PRINGLE-DISEASE



Harvard Style

Harkitasari, S., Adnyana, . I. M. O., Gelgel, . A. M., Linawati, . N. M., Mahadewa, . T. G. B. & Maliawan, . S. (2020) Epilepsy in Bourneville-Pringle disease: A case report. Int J Med Rev Case Rep, 4 (11), 41-46. doi:10.5455/IJMRCR.BOURNEVILLE-PRINGLE-DISEASE



Turabian Style

Harkitasari, Saktivi, I Made Oka Adnyana, Anna Marita Gelgel, Ni Made Linawati, Tjokorda Gde Bagus Mahadewa, and Sri Maliawan. 2020. Epilepsy in Bourneville-Pringle disease: A case report. International Journal of Medical Reviews and Case Reports, 4 (11), 41-46. doi:10.5455/IJMRCR.BOURNEVILLE-PRINGLE-DISEASE



Chicago Style

Harkitasari, Saktivi, I Made Oka Adnyana, Anna Marita Gelgel, Ni Made Linawati, Tjokorda Gde Bagus Mahadewa, and Sri Maliawan. "Epilepsy in Bourneville-Pringle disease: A case report." International Journal of Medical Reviews and Case Reports 4 (2020), 41-46. doi:10.5455/IJMRCR.BOURNEVILLE-PRINGLE-DISEASE



MLA (The Modern Language Association) Style

Harkitasari, Saktivi, I Made Oka Adnyana, Anna Marita Gelgel, Ni Made Linawati, Tjokorda Gde Bagus Mahadewa, and Sri Maliawan. "Epilepsy in Bourneville-Pringle disease: A case report." International Journal of Medical Reviews and Case Reports 4.11 (2020), 41-46. Print. doi:10.5455/IJMRCR.BOURNEVILLE-PRINGLE-DISEASE



APA (American Psychological Association) Style

Harkitasari, S., Adnyana, . I. M. O., Gelgel, . A. M., Linawati, . N. M., Mahadewa, . T. G. B. & Maliawan, . S. (2020) Epilepsy in Bourneville-Pringle disease: A case report. International Journal of Medical Reviews and Case Reports, 4 (11), 41-46. doi:10.5455/IJMRCR.BOURNEVILLE-PRINGLE-DISEASE