Beyond a Routine Blood Gas, an Easily Picked but Missed Diagnosis of Chronic Encephalopathy

Overview

Journal Int J Pediatr Adolesc Med

Date 2021 Mar 15

PMID 33718579

Authors

Haya S AlFaris

Ghasan Elhissi

Aziza Chedrawi

Mohammad A Al-Muhaizea

Affiliations

Soon will be listed here.

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.

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