Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study.

Objectives: The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of rare neurodevelopmental disorders, characterised by early-onset seizures that are often intractable, electroencephalographic abnormalities, and developmental delay or regression. There is a paucity of data from sub-Saharan Africa on the genetic basis of DEE. The aim of this study was to investigate the genetic background of DEE using targeted next generation sequencing (NGS) analysis in a tertiary pediatric neurology outpatient department at Tygerberg Hospital, South Africa.

Transient acetylcholine receptor-related myasthenia gravis, post multisystem inflammatory syndrome in children (MIS-C) temporally associated with COVID-19 infection.

We report on a unique case of a 7-year-old girl with new onset ocular myasthenia gravis shortly after recovery from multisystem inflammatory syndrome in children (MIS-C) temporally associated with SARS-CoV-2 infection. The diagnosis of myasthenia gravis was based on suggestive symptoms of fatigable bilateral orbital ptosis, diplopia, positive ocular cold compression test and serum acetylcholine receptor antibody positivity, as well as a favourable treatment response to pyridostigmine. The addition of corticosteroids and methotrexate resulted in complete resolution of the ocular signs.

Acquired unilateral upper limb hypertrophy as a late complication of tuberculous meningitis complicated by Chiari 1 malformation and syringomyelia.

Syringomyelia associated with tuberculous meningitis (TBM) is an extremely rare condition. Only a few adult cases have been reported. A 12-year-old woman, who previously suffered TBM at the age of 6 months, presented with a long-standing history of right upper limb panhypertrophy, dissociate anaesthesia, frequent headaches, scoliosis and acquired macrocephaly.

Child with tuberculous meningitis and COVID-19 coinfection complicated by extensive cerebral sinus venous thrombosis.

We herein report a case of a child with tuberculous meningitis and COVID-19 coinfection complicated by hydrocephalus, arterial ischaemic stroke and extensive cerebral sinus venous thrombosis. Both conditions induce a proinflammatory cytokine drive resulting, among others, in a prothrombotic state. The disruption of the coagulation system in this case was supported by elevated D-dimers, fibrinogen and ferritin levels, consistent with thrombotic complications reported in some adult patients infected with COVID-19.