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.