X-linked Adrenoleukodystrophy in a 20-Year-Old Male With an ABCD1 Gene Mutation: First Case From Pakistan.

X-linked adrenoleukodystrophy (X-ALD) is a rare neurodegenerative disease characterized by genetic mutation of the ABCD1 gene. This gene encodes for transmembrane adrenoleukodystrophy protein (ALDP). Defective ALDP protein results in the accumulation of a very long chain fatty acid (VLCFA) within certain tissues and plasma. X-ALD can initially present as Addison's disease (primary adrenal insufficiency) as the accumulation of VLCFA most importantly occurs in the adrenal gland. Our 20-year-old male patient, a known case of Addison's disease, presented with vision loss, neurologic symptoms, and psychiatric issues. Neurologic symptoms included poor concentration and memory, while psychiatric problems included primarily depressive disorder and mild psychotic behavior. His Addison's disease was secondary to X-ALD. Still, he was diagnosed late due to a lack of awareness of X-ALD and a lack of resources for genetic testing in Pakistan. Therefore, the purpose of this case report is to spread knowledge and understanding of X-ALD, so that it can be ruled out as the potential cause of adrenal insufficiency in young patients, particularly males diagnosed with Addison's disease. Moreover, if the patient presents with Addison's disease and psychiatric issues, they should be tested to rule out X-ALD.

Pediatric Risk of Mortality III Score in Predicting Mortality Among Diabetic Ketoacidosis Patients in a Pediatric Intensive Care Unit.

Background Diabetic ketoacidosis (DKA) is one of the most common complications of type 1 diabetes. Mortality is not uncommon in DKA, mostly in younger children with severe DKA and those complicated with cerebral edema. Early identification of high-risk patients can help in timely interventions to improve the outcome of DKA. Pediatric Risk of Mortality (PRISM III) is a standard scoring system to objectively predict the prognosis and outcome of pediatric intensive care unit (PICU) patients. Objective To predict the need for inotrope and mechanical ventilation and mortality rate using PRISM III in DKA patients admitted to PICU. Methods A prospective observational study was conducted in the PICU of the National Institute of Child Health, Karachi, from February 2020 to September 2021 involving 114 children. PRISM III scoring protocol was applied. A PRISM III score of >8 predicted higher mortality risk.  Results The mean PRISM III score was 6.56 ± 3.18 with 30 (26.3%) children having a score >8. Of the 30 (26.31%) patients with >8 PRISM III scores, 14 (46.67%) needed inotropic support, 6 (20%) needed mechanical ventilation, and there were eight (26.67%) mortalities. There was no reported mortality among patients with a PRISM III score ≤8. All differences were statistically significant (p < .05). Conclusion PRISM III is a highly sophisticated scoring system that can aid clinicians in the early prediction of adverse clinical outcomes in patients with DKA. Robust scientific evidence supporting its clinical application can help practically improve the outcome of DKA in young patients.