Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant multisystem disorder that is caused by mutations of transforming growth factor-β receptors. Mutations in SMAD3 and TGFB3 have been recently reported.
LDS is characterised by the triad of arterial tortuosity, hypertelorism and a bifid uvula or cleft palate among other cardiovascular, craniofacial and orthopaedic manifestations. Patients with LDS show clinical and genetic variability and there is a significant risk of reduced life expectancy due to widespread arterial involvement, aortic root dilation, aneurysms and an aggressive vascular course. Thus early genetic testing is warranted if clinical signs and history are suggestive of this potentially catastrophic disorder.
LDS predisposes patients to aortic aneurysms and early death due to vascular malformations, but neurological emergencies, such as seizures and febrile status epilepticus, have not been reported.
Febrile status epilepticus is the most common neurological emergency in childhood. Neurological manifestations of COVID-19 in the paediatric population are not as well described in medical literature.
To the best of our knowledge, this is the first reported case of febrile status epilepticus with COVID-19 infection in an infant with LDS. Our patient had focal epileptiform activity emanating over the left posterior hemisphere, which evolved into an electrographic seizure on video EEG. Such patients have a heightened risk of epilepsy in the future, and this occurrence is consistent with a diagnosis of focal epilepsy. Neurological complications such as epilepsy and status epilepticus in a patient with LDS have never been reported before.
A brief review of literature is also given here.
- Neuro genetics
- Genetic screening / counselling
- Epilepsy and seizures
- Infectious diseases
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Contributors AA wrote the initial manuscript, SA and HH made changes and additions. SC provided the radiologic images and description. AA and HH reviewed the video EEG and wrote the description. All authors have reviewed and approved the final manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.