Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report.

INTRODUCTION: Most coronavirus disease 2019 (COVID-19) pediatric patients are asymptomatic; however, several neurological manifestations associated with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection have been reported. Demyelinating events such as acute disseminated encephalomyelitis have been recently included among potential complications of COVID-19. CASE REPORT: We describe the case of a 12-year-old boy who developed central nervous system demyelinating lesions following SARS-CoV-2 infection. Two months prior he had been diagnosed with panuveitis but was otherwise healthy. Three weeks after testing positive for SARS-CoV-2, he started to complain of right temporal headache associated with right orbital pain without vision impairment. Brain magnetic resonance imaging showed large leukodystrophy-like demyelinating lesions. Standard electroencephalogram revealed a slow activity on the right hemisphere. His clinical and electroencephalographic course was favorable, with a good response to corticosteroid therapy and infusions of intravenous immunoglobulins. Delayed but complete resolution of brain lesions was noted on imaging. CONCLUSION: Our case contributes to broaden the knowledge regarding the spectrum of possible complications of SARS-CoV-2 infection. The relative lack of clinical manifestations in our patient can be seen as a warning not to underestimate even mild neurological symptoms correlated with COVID-19.

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

The CC2D2A gene is essential for primary cilia formation, and its disruption has been associated with Joubert Syndrome-9 (JBTS9), a ciliopathy with typical neurodevelopmental features. Here, we describe an Italian pediatric patient with typical features of Joubert Syndrome (JBTS): "Molar Tooth Sign", global developmental delay, nystagmus, mild hypotonia, and oculomotor apraxia. Whole exome sequencing and segregation analysis identified in our infant patient a novel heterozygous germline missense variant c.3626C > T; p.(Pro1209Leu) inherited from the father and a novel 7.16 kb deletion inherited from the mother. To the best of our knowledge, this is the first report showing a novel missense and deletion variant involving exon 30 of the CC2D2A gene.