ABSTRACT
Autoimmune encephalitis (AE) has been increasingly recognized in children. An 11-year-old Saudi boy presented with prodromal symptoms of fever and headache followed by behavioral changes, cognitive impairment, and focal seizures. Cerebrospinal fluid (CSF) analysis showed pleocytosis. Brain magnetic resonance imaging showed T2/fluid-attenuated inversion recovery hyperintensities involving the temporal, parietal and frontal lobes. Electroencephalography revealed diffuse encephalopathy and electrographic seizures. AE was suspected; intravenous methylprednisolone and immunoglobulin were administered. Autoantibodies against glutamic acid decarboxylase-65 were detected in his serum and CSF and against Sry-like high- mobility group box 1 in his serum only. The patient was diagnosed with seropositive AE and favorably responded to intensive immunosuppressive therapy.
ABSTRACT
Recessive congenital methemoglobinemia (RCM) is a rare neurological disorder caused by a deficiency in NADH-CYB5R. RCM has two main types I&II, with cyanosis being the hallmark feature in both. Type-I is a mild form, with cyanosis being the only feature. While type-II is the severe form with prominent neurological symptoms including, dystonia and spasticity. However, the cyanosis is subtle and difficult to appreciate. The cyanosis in RCM is treated with ascorbic-acid or methylene-blue. However, those treatments will not alter the neurological complication. In this paper, we report two cases of RCM type-II in Saudi siblings. They presented with cyanosis at birth; a CO-oximetry was done showing a high level of methemoglobin and a trail of methylene blue was used. The siblings were followed up and showed signs of developmental delay, hypotonia, exaggerated reflex, and seizure. A genetic analysis was requested, which showed missense mutation (c.274 C > T), leading to amino acid substitution; p. Arg92Trp.
