Published date: Oct 30 2024

Journal Title: Dubai Medical Journal

Issue title: Dubai Medical Journal (DMJ): Volume 7 Issue 1

Pages: 3–8

DOI: 10.18502/dmj.v7i1.17494

Fatima Farid Mirfatimafmir@gmail.comPediatric Department, Dubai Hospital, Dubai

Mohammad AshrafPediatric Department, Dubai Hospital, Dubai

We present a 7-year-old girl who presented to our emergency department in active status epilepticus. Seizures responded to standard antiepileptic medications; however, baseline work-up for seizure etiology remained unremarkable. Her new-onset seizures were further investigated via EEG and MRI brain, which revealed focal epileptiform discharges and periventricular nodular heterotopia, respectively. Concurrently, the clinical evaluation revealed extensive marfanoid features, and a personal history of eczema and asthma. Her family history was pertinent for aortic valve disease, asthma, and tall stature. Given the peculiar skeletal features, allergic propensities and coexistent weighty family history, a molecular genetic panel analysis for Marfan Syndrome and Loeys-Dietz Syndrome (LDS) were sought. Genetic testing revealed an underlying heterozygous variant in the TGFBR-1 gene; thereby confirming the presence of LDS. The child had responded well to single antiepileptic agent therapy and was discharged in good condition with regular outpatient cardiac and neurology follow-up. This is a unique case reported of a child with genetically diagnosed LDS concurring with an underlying neuronal migration disorder, manifesting in an acute, severe, and lifethreatening fashion.

Keywords: epilepsy, Loeys-Dietz Syndrome, neuronal migration disorder, seizures

[1] Kontzialis M, Kuyumcu G, Zamora C. Loeys-Dietz syndrome. Neurol India 2016 Dec 1;64(5):1087-1088.

[2] MacCarrick G, Black JH, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, et al. Loeys–Dietz syndrome: A primer for diagnosis and management. Genet Med 2014;16(8):576-587.

[3] Akbar A, Ahmad S, Creeden S, Huynh H. Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: First reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literature. BMJ Case Rep. 2022 Nov 3;15(11):e250587. doi: 10.1136/bcr-2022-250587.

[4] Cozijnsen L, Plomp AS, Post JG, Pals G, Bogunovic N, Yeung KK, et al. Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome. Mol Genet Genomic Med 2019;7(10):e00943-n/a.

[5] Rodrigues VJ, Elsayed S, Loeys BL, Dietz HC, Yousem DM. Neuroradiologic manifestations of Loeys- Dietz Syndrome Type 1. Am J Neuroradiol (AJNR) 2009;30(8):1614-1619.

[6] Stouffer MA, Golden JA, Francis F. Neuronal migration disorders: Focus on the cytoskeleton and epilepsy. Neurobiol Dis 2016;92(Pt A):18-45.