Immunodeficiency and Thymoma: A Case Report on Good Syndrome, a Diagnosis Frequently Missed and Forgotten
Challenging differential diagnosis, Unusual setting of medical care, Rare disease
Andy Sing Ong Tang, Wei Huei Loh, Qi Ying Wong, Siaw Tze Yeo, Wei Loon Ng, Pak Inn Teoh, Tem Lom Fam, Lee Ping Chew, Hock Hin Chua
Haematology Unit, Department of Internal Medicine, Miri Hospital, Ministry of Health, Sarawak, Malaysia
Am J Case Rep 2021; 22:e928659
Available online: 2021-02-03
Good syndrome (thymoma with immunodeficiency) is a frequently missed and forgotten entity. It is a rare cause of combined B and T cell immunodeficiency in adults. To date, fewer than 200 patients with Good syndrome have been reported in the literature.
CASE REPORT: We report a case of type AB Masaoka-Koga stage I thymoma which predated the evidence of immune dysregulation by 5 years, manifesting as bilateral cytomegalovirus retinitis, multiple bouts of pneumonia, and bronchiectasis in a HIV-seronegative 55-year-old man. Intravitreal ganciclovir was administered in addition to intravenous systemic ganciclovir, which resulted in severe neutropenic sepsis. A thorough immunodeficiency workup confirmed the presence of hypogammaglobulinemia with complete absence of B cells and reduced CD4/CD8 ratio. The patient responded well to monthly intravenous immunoglobulin replacement therapy, with no further episodes of infection since then. The immunoglobulin level doubled after 1 year of treatment. However, as the patient refused further intravitreal and CMV-targeted treatment, his vision did not recover.
CONCLUSIONS: Clinicians should be aware that thymoma can precede the onset of immunodeficiency. Clinical suspicion should be heightened in at-risk patients who present with multiple bouts of infection, particularly in thymoma cases with adult-onset immune dysfunction. It is of paramount importance to follow up those patients with annual clinical reviews and immunodeficiency screening.
Keywords: Agammaglobulinemia, Cytomegalovirus Retinitis, Thymoma