No abstract

Pigmented villonodular synovitis is a benign proliferative disease of the synovial structures. This disease is most commonly seen in the extremities, and spinal involvement is extremely rare. In the relevant literature, 53 cases have been reported. We present a 66-year-old female patient with a long history of back pain, which progressed and radiated to the left leg over a period of 2 months. The patient also had a mass in the lumbar region on the grounds of spinal degenerative changes. Following gross total excision, the diagnosis was established by histopathology. In this report, we present our experience and discuss our neuroradiological and clinical findings.

BackgroundRegarding the difficulties in recognition and management of the malignancies in primary immune deficiencies (PIDs), we aimed to present the types, risk factors, treatment options, and prognosis of the cancers in this specific group.MethodsSeventeen patients with PID who developed malignancies or malignant‐like diseases were evaluated for demographics, clinical features, treatment, toxicity, and prognosis.ResultsThe median age of malignancy was 12.2 years (range, 2.2‐26). Lymphoma was the most frequent malignancy (n = 7), followed by adenocarcinoma (n = 3), squamous cell carcinoma (n = 2), cholangiocarcinoma (n = 1), Wilms tumor (n = 1), and acute myeloid leukemia (n = 1). Nonneoplastic lymphoproliferation mimicking lymphoma was observed in five patients. The total overall survival (OS) was 62.5% ± 12.1%. The OS for lymphoma was 62.2% ± 17.1% and found to be inferior to non‐PID patients with lymphoma (P = 0.001).ConclusionIn patients with PIDs, malignancy may occur and negatively affect the OS. The diagnosis can be challenging in the presence of nonneoplastic lymphoproliferative disease or bone marrow abnormalities. Awareness of susceptibility to malignant transformation and early diagnosis with multidisciplinary approach can save the patients’ lives.

Small bowel obstruction caused by myeloid sarcoma in a patient with any hematological abnormality is very rare. Myeloid sarcoma occurs most commonly in patients with acute myelogenous leukemia (AML) and less with other hematological disorders. A 57-year-old female presented with abdominal pain, nausea, vomiting, and constipation. Radiological studies showed concentric bowel thickening in distal ileum that caused nearly total luminal compromise and signs of obstruction in proximal ileal bowel loops. She underwent laparotomic surgery and ileal resection was done. Diagnosis of myeloid sarcoma was made by histopathological examination of surgical specimens. Bone marrow biopsy was done to rule out systemic acute myelogenous leukemia (AML). Results of bone marrow biopsy were within normal limits. Finally, the patient was diagnosed as de novo myeloid sarcoma. Although the histopathological examination makes a definitive diagnosis, imaging allows to locate the lesion, evaluate its complications, and guide for correct biopsy. Accurate diagnosis of myeloid sarcoma has important prognostic value as transformation to AML can happen without chemotherapy or stem cell transplantation.

Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency was recently defined as a new severe congenital neutropenia subgroup remarkable with congenital heart defects, urogenital malformations, endocrine abnormalities, and prominent superficial veins. Here, we report 3 patients with G6PC3 deficiency presenting with recurrent diarrhea, failure to thrive, and sinopulmonary infections leading to bronchiectasis. In patient I and II, a combined immune deficiency was suspected due to early-onset disease with lymphopenia, neutropenia, and thrombocytopenia, along with variable reductions in lymphocyte subpopulations and favorable response to intravenous γ-globulin therapy. Apart from neutropenia, all 3 patients had intermittent thrombocytopenia, anemia, and lymphopenia. All patients had failure to thrive and some of the classic syndromic features of G6PC3 deficiency, including cardiac abnormalities and visibility of superficial veins in all, endocrinologic problems in PI and PIII, and urogenital abnormalities in PII. Our experience suggests that a diagnosis of congenital neutropenia due to G6PC3 may not be as straightforward in such patients with combined lymphopenia and thrombocytopenia. A high index of suspicion and the other syndromic features of G6PC3 were clues to diagnosis. Screening of all combined immune deficiencies with neutropenia may help to uncover the whole spectra of G6PC3 deficiency.