Pediatric Case Challenge: An 8-Year-Old Boy With Autism, Lupus, Fever, and Chest Pain

Agnes Reschke, MD; Liora Schultz, MD; Catherine Aftandilian, MD; Norman Lacayo, MD


May 03, 2023


Flow cytometry of cells from the pleural fluid confirmed the presence of an abnormal T- lymphoblast population. A bone marrow aspiration, biopsy, and lumbar puncture were performed to complete staging and confirm the diagnosis of T-cell lymphoblastic leukemia/lymphoma due to the presence of > 20% blasts in the patient's bone marrow.

Anterior mediastinal masses may be missed despite several evaluations by physicians, especially when the presentation is complicated by the presence of fever and cough during peak viral respiratory season. The presence of progressive symptoms despite adequate treatment with antibiotics should raise clinical suspicion for a potential malignancy and warrant additional imaging. Although the differential diagnosis for an anterior mediastinal mass in children is broad, the presence of malignant cells in pleural fluid is most indicative of T-cell lymphoblastic lymphoma/leukemia. Hodgkin lymphoma is also high on the differential diagnosis, but it cannot be diagnosed based on pleural fluid because these cells do not frequently circulate. A diagnosis of Hodgkin lymphoma requires a lymph node biopsy, either a core biopsy or excisional biopsy.

Due to the presence of multiple hypopigmented/hyperpigmented macules and axillary freckling, the patient was referred to genetic specialists for evaluation. He had been previously evaluated for similar findings at 7 months of age. Test results for mutations in the NF1 gene and SPRED1 gene at that time were negative, ruling out neurofibromatosis type 1 (NF1) and Legius syndrome, respectively. A brain MRI was also obtained in infancy, the results of which were unremarkable. He was evaluated by a pediatric dermatologist for his skin findings and diagnosed with cutis tricolor parvimaculata. Given his new diagnosis of T-lymphoblastic leukemia/lymphoma in conjunction with his diagnosis of SLE, the skin findings, and a history of consanguinity, he underwent a more extensive genetic evaluation to evaluate for a mismatch repair defect. A mismatch repair deficiency panel revealed a "homozygous likely pathogenic variant identified in MSH6," which was indicative of constitutional mismatch repair deficiency (CMMRD).


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