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    ALDOSTERONE SYNTHASE DEFICIENCY FROM HOMOZYGOUS CYP11B2 MUTATION PRESENTING WITH SALT WASTING CRISIS AND FAILURE TO THRIVE IN AN INFANT
    (Department of Anaesthesia and Reanimation, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, R.N. Macedonia, 2025-12-17)
    Nikchevska, Natasha
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    Palchevska Kocevska, Snezhana
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    Spasevska, Simonida
    Abstract Introduction: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP11B2 gene, leading to impaired aldosterone synthesis and life-threatening salt-wasting. We present a case of an infant with failure to thrive, dehydration, and electrolyte imbalance, diagnosed through next-generation sequencing. Material and Methods: mitted with persistent vomiting, constipation, and a10% weight loss. Laboratory evaluation showed severe hyponatremia (116 mmol/L), hyperkalemia (6.5 mmol/L), hypochloremia (87 mmol/L), and metabolic alkalosis. Differential diagnosis included gastrointestinal loss, renal salt-wasting, cystic fibrosis, celiac disease, and congenital adrenal hyperplasia. Normal 17-hydroxyprogesterone excluded classical CAH. Next-generation sequencing was performed. Results: A homozygous pathogenic variant c.554C>T (p.Thr185Ile) in CYP11B2 confirmed ASD. Treatment with fludrocortisone and sodium supplementation resulted in rapid correction of electrolytes and improved growth. Follow-up at 3.5 years showed normal growth (14.5 kg, 103 cm), stable electrolytes, and normal development, with only mild transient hyponatremia during illness. Conclusion: ASD should be considered in infants with vomiting, dehydration, and combined hyponatremia–hyperkalemia when CAH is excluded. Early diagnosis and mineralocorticoid therapy prevent complications and support normal development.
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    Incarcerated Amyand’s hernia in a 6-week old infant repaired under spinal anesthesia
    (2022-12)
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    Aleksandar Stepanovski
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    Marjana Burmuzoska
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    Andrijana Andreevska Stepanovska
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    Amyand’s hernia is characterized by the presence of the vermiform appendix in an inguinal hernia sac. It occurs in less than 1% of all inguinal hernias in children’s age. As the usual pediatric inguinal hernia, it can present in multiple ways, from uncomplicated to incarcerated and/or strangulated hernia with normal, inflamed or even perforated vermiform appendix within the hernia sac. The repair of all the infant cases we came across in literature involved herniorrhaphy with or without appendectomy and general anesthesia. Herein, we present a case of Amyand’s hernia in an infant with concomitant patent ductus arteriosus (PDA), patent foramen ovale (PFO) and interventricular septum hypertrophy that presented with signs and symptoms suggestive of ordinary right-sided incarcerated inguinoscrotal hernia. Due to the cardiac anomaly the infant underwent spinal anesthesia for the hernia repair, thus contributing to the rarity of the case. By thorough literature review, we could not find any similar case of Amyand’s hernia incarceration in an infant operated on under spinal anesthesia. Furthermore, we discuss the surgical and anesthetic aspects of this condition in children.