13 April 2023>: Articles
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up
Rare disease
Satoshi Ekuni * , Kei Hirayama * , Miwako Nagasaka A* , Keita Osumi B , Hidehito Kondo B , Erina Nakahara C , Keiko Shimojima Yamamoto C , Hitoshi Kanno C , Yoshinori Katayama DDOI: 10.12659/AJCR.938396
Am J Case Rep 2023; 24:e938396
Figure 1. Clinical course of the patient, including changes in hemoglobin (Hb) concentrations and administered treatments. Administration of vitamins C and E was started at 5 days of age, and metabolic acidosis was corrected with sodium bicarbonate injection depending on the degree of worsening acidosis at first presentation and with regular sodium bicarbonate injection after 14 days of age. The oral route was used to start administering sodium bicarbonate when the patient was 19 days of age. After discharge, several episodes of febrile convulsions were observed from age 11 months, but since the age of 2 years no seizures have recurred. Hb – hemoglobin; Fc – febrile convulsions; GE – gastroenteritis; NaHCO3 – sodium bicarbonate; PB – Phenobarbital; PT – phototherapyl Alb – albumin; RBC – red blood cell transfusion; Epo – erythropoietin; i.v. – intravenous injection; p.o. – per os. This original figure was created by Satoshi Ekuni.