The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice.

BACKGROUND: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), also known as Glutaric Aciduria Type II, is an exceptionally rare autosomal recessive genetic disorder that disrupts the metabolism of fatty acids, amino acids, and choline. It presents with a wide range of clinical manifestations, from severe neonatal-onset forms to milder late-onset cases, with symptoms including metabolic disturbances and muscle weakness. Jordan's anomaly is a distinctive morphological feature found in peripheral blood white cells and is typically associated with Neutral Lipid Storage Disease (NLSD). CASE REPORT: In our case report, the patient initially presented with symptoms of vomiting, abdominal pain, and altered consciousness. The presence of white cell Jordan's anomaly was detected in the blood smear. Subsequent serum tests revealed elevated levels of transaminases, creatine kinase, uric acid, and multiple acylcarnitines, while blood glucose and free carnitine levels were notably reduced. High-throughput sequencing confirmed heterozygous pathogenic variants in the electron-transferring flavoprotein dehydrogenase (ETFDH) gene, leading to the conclusive diagnosis of MADD. Following a three-month treatment regimen involving high-dose vitamin B2, coenzyme Q10, and other supportive interventions, the patient exhibited significant clinical improvement, ultimately resulting in discharge. CONCLUSION: The identification of Jordan's anomaly in a pediatric patient with late-onset MADD sheds light on its broader implications within the realm of lipid storage myopathies. The significance of this finding extends beyond its conventional association with NLSD, challenging the notion of its exclusivity. This novel observation serves as a compelling reminder of the diagnostic significance this morphological abnormality holds, potentially revolutionizing diagnostic practices within the field.

The green bad omen in blood smear and the potential of blood purification therapy: A case report.

RATIONALE: Green inclusions (GI) are distinct morphological features found in phagocytic cells like neutrophils and monocytes. These intracellular structures exhibit bright green color with unclear boundaries, and their origin and clinical significance are still not fully understood. GI carriers, often middle-aged to elderly with liver dysfunction, face higher mortality rates, earning them the nickname "inclusions of death." This report presents a rare GI-related pediatric case, demonstrating a favorable response to blood purification therapy. PATIENT CONCERNS: A 10-year-old girl was admitted with recurrent fever, abdominal pain, and neurological symptoms, culminating in a transient cardiac arrest. Blood tests revealed multi-organ injury and a high risk of disseminated intravascular coagulation, while peripheral blood smear detected GI within neutrophil cytoplasm. DIAGNOSIS: The patient was diagnosed with acute necrotizing encephalopathy, severe sepsis, and multiple organ failure. INTERVENTIONS AND OUTCOMES: After receiving multiple sessions of blood purification therapy, peripheral blood GI levels markedly decreased, accompanied by improvements in various laboratory parameters and signs of neurological recovery. Unfortunately, due to financial constraints, the family opted to transfer the patient back to their local hospital, where she succumbed shortly after discharge. LESSONS: This case underscores the complexities in managing GI-related pediatric cases. Moreover, it emphasizes the potential benefits of blood purification therapy in such scenarios. Notably, this study highlights a potential correlation between the level of GI in peripheral blood and disease severity, particularly in pediatric cases. While these findings hold clinical significance for the treatment and management of GI-related patients, further research focusing on middle-aged and elderly individuals is imperative to elucidate the fundamental relationship between peripheral blood GI quantity and clinical presentation and to evaluate the efficacy of blood purification in GI-related cases.