Pituitary adenomas are the commonest sellar tumours. Pituitary metastases are very rare, with the most common primaries being breast and lung cancers. We report the case of an 83-year-old man with a history of breast carcinoma who presented with recent-onset headaches and progressive deterioration of visual acuity. MRI brain showed a large sellar and suprasellar mass compressing the optic chiasm and involving the pituitary stalk. Transsphenoidal debulking resulted in symptomatic relief and visual recovery. Specimen examination revealed a combination of a gonadotroph pituitary adenoma that was infiltrated by metastatic breast carcinoma. He had no symptoms of diabetes insipidus. He was subsequently treated with pituitary radiotherapy. This is a very rare presentation of a pituitary mass with mixed pathology. To our knowledge, this is the third description of a breast carcinoma metastasis into a gonadotroph cell pituitary adenoma. Highlight points: Infiltrating metastases into pituitary adenomas are very rare but do occur. To our knowledge this is the third case of breast adenocarcinoma metastasising to a gonadotroph pituitary adenoma. Pituitary metastases should always be considered in rapidly evolving pituitary symptoms in a cancer patient. Not all complex pituitary lesions are associated with panhypopituitarism. Early invasive local management (TSS and post TSS radiotherapy) can provide rapid satisfactory outcomes.
WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome is a rare primary immunodeficiency disorder characterized by susceptibility to human papillomavirus (HPV) infections, neutropenia, and hypogammaglobulinemia. WHIM syndrome is caused by a gain-of-function mutation CXCR4, leading to increased responsiveness of neutrophils and lymphocytes to CXCL12. This results in an accumulation of atypical hypersegmented mature neutrophils in the bone marrow and peripheral blood neutropenia. This case report discusses a 10-year-old girl who was diagnosed with WHIM syndrome at the age of four years following Haemophilus influenzae meningitis. She was found to have Tetralogy of Fallot at birth, which was surgically repaired when she was one year old. She was also found to have significant neutropenia during surgery and received multiple doses of G-CSF with a good response. She presented to the hospital at the age of four years with fever, neck stiffness, lethargy, and headache and was diagnosed with H. influenzae meningitis. Her immunology workup revealed significant neutropenia and hypogammaglobulinemia, as well as low antibody levels to H. influenza type B, tetanus toxoid, and Streptococcus pneumonia, despite up-to-date vaccination. Furthermore, decreased levels of T cells and B cells were detected. The patient was started on IgG replacement therapy and Bactrim prophylaxis. Bone marrow biopsy revealed granulocytic hyperplasia and occasional hypersegmented neutrophils, suggesting myelokathexis. Genetic testing revealed a heterozygous CXCR4 mutation with a premature stop codon (p.Ser338Ter), confirming the diagnosis of WHIM syndrome. This case report highlights the association of WHIM syndrome with congenital heart defects, such as Tetralogy of Fallot. A literature review revealed three other cases of congenital heart defects in patients with WHIM syndrome, indicating a potential role for CXCR4 and CXCL12 in septum formation. The rarity of the disorder and the lack of a universal screening tool makes the diagnosis of WHIM syndrome difficult. Therefore, physicians should consider WHIM syndrome in patients with congenital heart defects, particularly if they have recurrent HPV infections, neutropenia, and hypogammaglobulinemia.
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