A 27-year-old male presented with a chief complaint of cough exacerbation within the previous month.
He was a known case of hyper IgE Syndrome for 17 years with a history of recurrent pneumonia, chronic sinusitis, skin rashes, nail infections, coarse texture of the skin, and delayed dental shedding.
He had a family history of a similar condition in his elder brother and sister, causing an early death in both siblings because of sepsis. The medical records of both siblings were unfortunately not available, but genetic analysis of the patient had revealed a mutation in the STAT3 gene.
From childhood, as the disease had begun, the patient experienced recurrent episodes of respiratory tract infections and rashes on the skin. The lesions were superinfected, and the patient was on medication with anti-staphylococcus agents, which had resulted in moderation of the skin lesions.
He had lost light perception in his right eye when he was 12 years old due to cutaneous lesions and their superimposed infections.
A year ago, he was admitted to a pulmonary subspecialty ward because of pneumonia (with fever and chills, productive coughs, and yellow-brown sputum), was diagnosed with tuberculosis during clinical examination, and received the classic TB treatment, comprising of rifampin, isoniazid, ethambutol, and pyrazinamide (10–15 mg/kg of each medication).
Two months after starting the anti-TB medications, due to high liver functional enzymes (SGOT = 89 to > 77 to > 135, SGPT = 99 to > 101 to > 77) and a high ALK.P (4847 to > 4175 to > 991) in a number of lab tests, all TB medications were halted and the patient underwent further evaluation.
He underwent abdominal and pelvic CT scan which showed an enlarged liver (liver span in longest dimension equaled 20 cm) with 2 hypodense masses with a maximum diameter of 17 mm. Numerous large hypodense masses in both inguinal regions suggestive of lymphadenopathy and a mass-like lesion with a diameter of 41 × 77 mm in LLQ were found. The patient chose not to continue further evaluations and left the hospital on personal demand.
Twenty days prior to the last admission, the patient was admitted to the hospital because of cough exacerbation, fever, and chills. Reduced lung sounds and fine crackles were auscultated in both lung bases, and the liver was 5 cm below the rib cage.
He received antibiotics and supportive treatment for pulmonary infection and underwent chest radiography, which showed a huge mass in the left thoracic cavity, just above the heart. Because of this, the patient had a CT scan with intravenous contrast, which showed an infiltrative large mass of 60 × 78 mm in the left para-mediastinum with aortic encasement and subcarinal lymphadenopathy. Numerous nodules with a maximum diameter of about 17 mm were also seen in both lungs. A mosaic pattern with ground glass opacification and an increase in intralobular septum thickness were observed. A consultation with a clinical oncologist suggested biopsy of the lesions. Imaging findings of the patient are presented in Figs. 1, 2, 3, 4, 5, and 6.
Bronchial biopsy and washing were not diagnostic; therefore, open lung biopsy was performed after consultation with the thoracic surgery specialists and immunohistochemical analysis of the specimen showed strong immune reactivity of all large neoplastic cells for CD30 and their negative reaction for CD3, CD15, CD20, CD45, CK, S100, and vimentin. Numerous reactive CD20+ CD45+ B cells and many reactive CD3+ CD45+ T cells were also seen, which overall were in favor of anaplastic large cell lymphoma. Further examination revealed a positive Ki-1 marker. Further consultation with the oncology department resulted in the patient being treated with the CHOP regimen (cyclophosphamide, doxorubicin, vincristine, and prednisone). The patient was under treatment with this regimen for 2 months and was being considered to undergo treatment with brentuximab vedotin, until an episode of neutropenic fever caused the patient to be hospitalized in the ICU ward. The patient deteriorated swiftly and died within the first week of ICU hospitalization.