Vanishing white matter (VWM) disease is an autosomal recessive disorder that affects the central nervous system of a patient, and is caused by the development of pathogenic mutations in any of the EIF2B1-5 genes. Any dysfunction of the EIF2B1-5 gene encoded eIF2B causes stress-provoked episodic rapid neurological deterioration in the patient, followed by a chronic progressive disease course. We present the case of a patient with an infantile-onset VWM with the pre-described specific clinical course, subsequent neurological aggravation induced by each viral infection, and the noted consequent progression into a comatose state. Although the initial brain magnetic resonance imaging did not reveal specific pathognomonic signs of VWM to distinguish it from other types of demyelinating leukodystrophy, the next-generation sequencing studies identified heterozygous missense variants in EIF2B3, including a novel variant in exon 7 (C706G), as well as a 0.008% frequency reported variant in exon 2 (T89C). Hence, the characteristic of unbiased genomic sequencing can clinically affect patient care and decisionmaking, especially in terms of the consideration of genetic disorders such as leukoencephalopathy in pediatric patients.
Brain ; Central Nervous System ; Coma ; Eukaryotic Initiation Factor-2B ; Exome ; Exons ; Humans ; Leukoencephalopathies ; Magnetic Resonance Imaging ; Patient Care ; White Matter

OBJECTIVE: To investigate the proportion of aspiration pneumonia cases among patients with community-acquired pneumonia in Korea. METHODS: This retrospective study included patients with community-acquired pneumonia who had been admitted to the emergency department of a university-affiliated tertiary hospital in Gyeonggi Province, Korea between January 1, 2016 and December 31, 2016. Among these patients, those with aspiration pneumonia were identified using ICD-10 codes (J69.*). Patients with recurrent pneumonia were excluded, as were those who were immunocompromised. The proportion of cases of aspiration pneumonia was calculated, and the characteristics and clinical outcomes of patients with aspiration pneumonia and non-aspiration pneumonia were compared. RESULTS: The proportion of aspiration pneumonia cases among patients with community-acquired pneumonia was 14.2%. Patients with aspiration pneumonia were significantly more likely to be older (p<0.001) and male (p<0.001), and to have a higher confusion, uremia, respiratory rate, blood pressure, and age ≥65 years (CURB-65) score (p<0.001) as compared to patients with non-aspiration pneumonia. They were also more likely to require admission to the intensive care unit (p<0.001) and a longer hospital stay (p<0.001). CONCLUSION: Aspiration pneumonia accounts for 14.2% of all cases of community-acquired pneumonia in Korea. These data may contribute to the establishment of healthcare strategies for managing aspiration pneumonia among Korean adults.
Adult ; Blood Pressure ; Community-Acquired Infections ; Delivery of Health Care ; Emergency Service, Hospital ; Gyeonggi-do ; Humans ; Intensive Care Units ; International Classification of Diseases ; Korea ; Length of Stay ; Male ; Pneumonia ; Pneumonia, Aspiration ; Respiratory Rate ; Retrospective Studies ; Tertiary Care Centers ; Uremia