De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report.

BACKGROUND: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is a rare autosomal recessive severe neurometabolic disease. The aim of this study was to investigate the clinical characteristics and genetic pathogenicity of PEBEL1 caused by rare NAXE (or APOA1BP)-related defects. CASE SUMMARY: The patient was a girl aged 2 years and 10 mo. She was hospitalized due to walking disorder for > 40 d. The clinical manifestations were ataxia, motor function regression, hypotonia, and eyelid ptosis. Within 1 mo of hospitalization, she developed sigh breathing, respiratory failure, cerebellar edema and brain hernia, and finally she died. Changes were found in cranial imaging, including cerebellar edema accompanied by symmetrical myelopathy. Through whole exome sequencing, we detected NAXE compound heterozygous variation (NM 144772.3) c.733A>C (p. Lys245Gln, dbSNP: rs770023429) and novel variation c.370G>T (p.Gly124Cys) in the germline gene. The clinical features and core phenotypes of this case were consistent with 18 previously reported cases of PEBEL1. CONCLUSION: This is the first case of NAXE-related PEBEL1 with severe clinical phenotype in Mainland China. The p.Gly124Cys mutation discovered in this case has enriched the pathogenic variation spectrum of NAXE.

Efficacy and Safety of Phosphate Enema as a therapeutic agent in Hypophosphatemia in Critically Ill Children.

The aim of the study was to evaluate the safety and efficacy of oral administration of phosphorous enema in hypophosphatemia (HP) in critically ill children admitted in the pediatric intensive care unit (PICU) of The Indus Hospital, Karachi, from September 2018 to August 2019. This was a retrospective review of 31 critically ill children with hypophosphatemia who received 1 ml/kg/day of phosphate enema through nasogastric tube or orally for phosphate replacement, with serial phosphorus level monitoring along with observation for its side effects. The results showed that the rise of serum phosphorus level was observed in all cases and 64.5% of cases achieved target phosphorus level with no adverse reactions observed. Sample size although limited, it is safe to state that oral phosphate enema is safe and effective for correction of hypophosphatemia in critically ill children. Key Words: Hypophosphatemia, Enema, Pediatric intensive care unit.