Allgrove syndrome is a rare autosomal recessive disorder. It is also known as the 3A syndrome and characterised by the triad of achalasia, alacrima and adrenal insufficiency. The AAAS gene is encoded on chromosome 12q13. We report the case of a 23-year-old woman who presented at the hospital with adrenal crisis that was triggered by infection of the urinary system and gastrointestinal bleeding. She had a known diagnosis of achalasia for eight years, and ophthalmologic examination revealed alacrima. Based on our findings, the patient was diagnosed with Allgrove syndrome.
Adrenal Insufficiency ; blood ; diagnosis ; genetics ; Adrenocorticotropic Hormone ; blood ; Diagnosis, Differential ; Diagnostic Techniques, Ophthalmological ; Endoscopy, Gastrointestinal ; Esophageal Achalasia ; blood ; diagnosis ; genetics ; Female ; Humans ; Mutation ; Nerve Tissue Proteins ; blood ; genetics ; Nuclear Pore Complex Proteins ; blood ; genetics ; Young Adult

BACKGROUND/AIMS: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and diffuse abdominal pain. The primary concern with this presentation is to distinguish it from acute appendicitis promptly. Thus, we aimed to evaluate the role of neutrophil lymphocyte ratio (NLR) to leverage the differential diagnosis of acute FMF attack with histologically proven appendicitis. METHODS: Twenty-three patients with histologically confirmed acute appendicitis and 88 patients with acute attack of FMF were included in the study. NLR, C-reactive protein and other hematologic parameters were compared between the groups. RESULTS: Neutrophil to lymphocyte ratio was significantly higher in patients with acute appendicitis compared to the FMF attack group (8.24 +/- 6.31 vs. 4.16 +/- 2.44, p = 0.007). The performance of NLR in diagnosing acute appendicitis with receiver operating characteristic analysis with a cut-off value of 4.03 were; 78% sensitivity, 62% specificity, and area under the curve 0.760 (95% confidence interval, 0.655 to 0.8655; p < 0.001). CONCLUSIONS: This study showed that NLR, the simple and readily available inflammatory marker may have a useful role in distinguishing acute FMF attack from acute appendicitis.
Adult ; Appendicitis/blood/*diagnosis ; Area Under Curve ; Biomarkers/blood ; Blood Sedimentation ; Diagnosis, Differential ; Familial Mediterranean Fever/blood/*diagnosis ; Female ; Humans ; Inflammation Mediators/blood ; Lymphocyte Count ; *Lymphocytes ; Male ; *Neutrophils ; Platelet Count ; Predictive Value of Tests ; ROC Curve ; Reproducibility of Results ; Retrospective Studies ; Young Adult