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.

Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta-thalassemia.

BACKGROUND: Overhydrated hereditary stomatocytosis (OHSt) is a rare disorder characterized by abnormalities in erythrocytic volume homeostasis. Early and accurate diagnosis is essential for appropriate management and genetic counseling. METHODS: We present the case of a child with beta-thalassemia and a history of multiple blood transfusions. Clinical presentation, laboratory findings, and genetic testing were reviewed. Peripheral blood smear examination and genetic analysis were performed. RESULTS: The patient was admitted with severe anemia, and peripheral blood smear examination revealed the presence of up to 50% stomatocytes. Laboratory investigations showed abnormalities in red blood cell parameters, including decreased hemoglobin levels and increased mean corpuscular volume. Genetic testing identified a heterozygous mutation in the RHAG gene, confirming the diagnosis of OHSt. The presence of stomatocytes in the peripheral blood smear was transient, correlating with episodes of hemolysis and its control.

Pregnant woman with acute promyelocytic leukemia delivers healthy twins and is cured successfully: A case report.

Acute promyelocytic leukemia (APL) during pregnancy is rare and difficult to treat. To the best of our knowledge, there is little precedent for successful treatment with combined chemotherapeutic agents without affecting delivery. The present study reported the case of a 31-year-old woman pregnant with twins who presented to the antenatal service at 13-week gestational age with complaints of vaginal bleeding, lower abdominal pain, bleeding gums and skin ecchymosis, and was eventually diagnosed with APL. After treatment with all-trans-retinoic acid (ATRA) and arsenic trioxide (ATO)-based induction regimen, the patient achieved a complete remission (CR) and delivered two healthy male infants at 34 weeks of gestation. The use of ATRA and ATO for the treatment of APL is controversial due to teratogenic effects and lethal retinoic acid syndrome. However, the patient demonstrated that the chemotherapy regimen with ATRA and ATO during the second and third trimesters can result in a sustainable remission and successful pregnancy outcome.

Isolated myeloid sarcoma with pericardial and pleural effusions as first manifestation: A case report.

RATIONALE: Myeloid sarcoma (MS) involves the proliferation of extramedullary blasts from 1 or more myeloid lineages, replacing the original tissue structures, and these neoplasias are called granulocytic sarcoma, chloroma, or extramedullary myeloid neoplasms. These tumors develop in lymphoid organs, bones, skin, soft tissues, various mucous membranes, organs, and the central nervous system. MS is rare in non-leukemic patients, while MS patient with effusion as the first manifestation is even rare. PATIENT CONCERNS: We report the case of 44-year-old woman with abdominal pain, diarrhea, and vomiting. DIAGNOSIS: Ultrasound examination and computed tomography of the chest revealed large pericardial effusions and bilateral pleural effusions. Cytomorphological examination of the pericardial and pleural effusion, flow cytometry, and immunohistochemical markers suggested myeloid tumor cells. However, concurrent peripheral blood and bone marrow examinations showed no evidence of acute myeloid leukemia. The patient was eventually diagnosed with isolated MS. INTERVENTIONS AND OUTCOMES: After chemotherapy with pirarubicin + cytarabine and high-dose cytarabine + etoposide, the pericardial effusion and pleural effusion were absorbed, and the mediastinal mass significantly shrunk. One year after patient gave up treatment, acute myeloid leukemia (AML) was confirmed by bone marrow examinations. CONCLUSION: The early manifestations of the patient lacked specificity and were highly susceptible to misdiagnosis. Cytomorphology and flow cytology indicated important directions for the diagnosis of the disease in the early stage. Administration of chemotherapy regimen containing cytarabine could prolong disease-free survival and time before progress to AML.