Key Clinical Message: Contraindications of spinal manipulative therapy (SMT) have been proposed, which mandate rigorous control for its safe practice when manipulating the upper spine. Here, we report a vascular complication of Neck Manipulation in Eagle syndrome (ES) patient. SMT is used to treat musculoskeletal conditions such as back pain and neck pain by applying force to the spinal joints. Here, we report a rare but devastating complication of SMT, where a young male patient, 22 years old, with ES, had a large pseudoaneurysm from the internal carotid artery (ICA) after SMT from an unlicensed practitioner, treated successfully with endograft. Clinicians administering SMT should consider an elongated styloid process as a potential contraindication to this therapy.

Introduction: Zeta-chain-associated protein kinase 70 (ZAP70) is a tyrosine kinase that plays a crucial role in T-cell activation via the T-cell receptor/CD3 complex and contributes to B-cell signaling. ZAP70 variants can cause a range of immunodeficiencies with variable clinical presentations, including infections and malignancies. Case Presentation: A 4-year-old boy presented with chronic cough, dyspnea, recurrent chest infections, and failure to thrive. Chest radiography revealed diffuse bilateral opacities, suggesting a diagnosis of diffuse familial bronchiectasis. Immunological workup at 18 years of age showed CD4⁺ and CD8⁺ T-cell lymphopenia, and genetic analysis revealed a homozygous pathogenic ZAP70 splice-site mutation (c.402 + 2 T>C). The patient then developed headaches, dizziness, and double vision, and Epstein–Barr virus (EBV) polymerase chain reaction (PCR) testing revealed a viral load of 700 IU/mL. Magnetic resonance imaging (MRI) revealed three brain lesions, and brain biopsy confirmed EBV-positive CD20 + diffuse large B-cell lymphoma (DLBCL). Despite aggressive chemotherapy and palliative radiotherapy, the patient’s condition deteriorated, resulting in death. Discussion: To our knowledge, this is the first known case of primary central nervous system DLBCL in a patient with a novel ZAP70 variant. ZAP70 deficiency is typically associated with combined immunodeficiency and rarely with malignancies such as leukemia or lymphoma. Genetic screening at earlier stages could have potentially identified this underlying immunodeficiency sooner and altered the management course. Conclusion: This case underscores the diagnostic challenges and aggressive course of ZAP70-related disease and highlights the need for increased clinical suspicion, immunologic surveillance, early genetic screening, and development of targeted therapies.

Key Clinical Message: Molybdenum cofactor deficiency is a rare and fatal genetic disorder. Due to recurrence in the family, the etiological diagnosis could have impacted family planning and alertness to future offspring. Molybdenum cofactor deficiency (MoCD) is a rare and fatal genetic disorder that impairs molybdenum‐dependent enzymes, resulting in conspicuous elevated urine sulfite levels and lowered serum uric acid levels. The disorder may be early‐onset, causing high fatality in neonates due to secondary complications, or late‐onset, manifesting in the first 2 years of life. Severe seizures, progressive neurological degeneration, motor abnormalities, and feeding difficulties are hallmarks of MoCD. Due to the similarity of clinical findings with those of sulfite oxidase deficiency and its neurological findings with hypoxic–ischemic encephalopathy, determining the true etiology remains challenging in MoCD patients. This case report presents a neonate in the first week of life with early onset refractory seizures, motor abnormalities, hypoactivity, and poor feeding behavior. Administering anti‐epileptic drugs did not improve the patient's condition, who started decompensating further. Nevertheless, a thorough screening for metabolic disorders revealed low serum uric acid and high sulfite levels in the urine, indicating potential MoCD. A whole exome sequencing (WES) was thus consulted for confirmatory diagnosis. Unfortunately, the patient's WES results were received after his demise, revealing MoCD caused by a novel variant of the MoCS2 gene that has not yet been reported to the best of our knowledge. This case emphasizes the need to disseminate crucial information regarding MoCD and its etiologies for prompt molecular diagnosis to reduce morbidity and mortality.

A document by Ahmed Gamal Sayed. Click on the document to view its contents.