Publications by authors named "A I Arion"
This case report presents a 9-year-old child without underlying pathology, with a severe life-threatening non-diabetic metabolic ketoacidosis occurring less than 48 h after the onset of fasting and vomiting. The patient was admitted to the pediatric intensive care unit. He received volume expansion and maintenance fluid therapy which allowed a favorable evolution.
View Article and Find Full Text PDFObjectives: Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors (factor XI) and coagulation inhibitors (antithrombin, protein C and protein S) deficiencies. The aim of the study was to correlate acute events to haemostasis and propose practical guidelines.
Methods: In this multicentric retrospective study, we evaluated clinical, radiological, haemostasis and electroencephalography data for PMM2-CDG patients hospitalized for acute events.
Article Synopsis
- MTHFR deficiency is a serious genetic disorder affecting the body’s ability to process homocysteine, leading to severe neurological issues in infants and a lack of long-term outcome data for these patients.
- This study analyzed clinical data from 72 MTHFR-deficient patients, focusing on those diagnosed before three months of age, to identify factors that predict severe neurodevelopmental problems.
- Results showed that a significant percentage of early-onset patients had neurological symptoms, and those diagnosed before symptoms exhibited much better long-term outcomes, suggesting the importance of early newborn screening and treatment.
Article Synopsis
- Liver disease in children and adults is often of unknown cause, potentially linked to undiagnosed inherited metabolic disorders like fructose-1,6-bisphosphatase deficiency, which has underreported liver symptoms.
- A study of 18 patients with this deficiency revealed liver abnormalities during both follow-up and acute crises, including hepatomegaly and elevated transaminases.
- The fatty liver disease associated with this condition may be related to endoplasmic reticulum stress and increased fat production, suggesting the need for ongoing liver monitoring in these patients throughout their lives.
Background: MEGDHEL is an autosomal recessive syndrome defined as 3-MEthylGlutaconic aciduria (3-MGA) with Deafness, Hepatopathy, Encephalopathy, and Leigh-like syndrome on magnetic resonance imaging, due to mutations in the SERAC1 (Serine Active Site Containing 1) gene, which plays a role in the mitochondrial cardiolipin metabolism.
Methods: We report the case of a young patient who presented with a convulsive encephalopathy, 3-methylglutaconic aciduria, deafness, and bilateral T2 hypersignals of the putamen and the thalami, who passed away at 8 years of age.
Results: Analysis of nuclear genes using an ampliSeq targeted custom panel disclosed two compound heterozygous variants in the SERAC1 gene: a nonsense substitution in exon 4, c.