Lígia Fernandes

Spontaneous splenic rupture in a patient with small-cell lung cancer

We report a case of a 66-year-old male patient presented to our pneumology ward with the diagnosis of neutropenic pneumonia. Therapy with granulocyte colony stimulating factors (G-CSF) and intravenous antibiotics was initiated as usual in this condition. The unexpected and acute onset of left-sided abdominal pain and sings of hypovolemic shock led us to a challenging diagnosis, rarely considered in non-traumatic patients. After pathological evaluation of the spleen, spontaneous splenic rupture due to G-CSF was our final diagnosis.

Primary pulmonary melanoma: the unexpected tumour

A 62-year-old woman was referred to our pulmonology team with exertional dyspnoea and chest tightness of 2 months duration. Her medical history included cervical cancer and thyroid nodules. Imaging studies showed collapse of left upper lobe. Fiberoptic bronchoscopy unveiled an endoluminal lesion and bronchial biopsy displayed features of melanoma. She denied a history of melanoma or excision of lesions of skin, mucous membranes or the eye. A thorough evaluation including combined positron emission tomography with CT scan excluded other possible sites of primary melanoma, but there was a metastasis in a thoracic vertebra. Palliative radiotherapy of the spine was performed. Chemotherapy initiation with dacarbazine was postponed by the appearance of a malignant pleural effusion, confirmed by pleural fluid cytology. After four cycles chemotherapy was discontinued due to disease progression. The patient is still alive with a follow-up of 12 months, currently on best supportive care.

Can we change a genetically determined future

We describe the clinical evolution of the first patient diagnosed with a severe α-1 antitrypsin (AAT) deficiency caused by a rare null allele (Q0Ourém), over the past 18 years. We highlight the clinical course of the disease as well as the evolution of the pulmonary function tests from initial diagnosis and the benefits of augmentation therapy for this specific condition. We report the case of a 43-year-old man with exertion dyspnoea who was observed in our pulmonology unit. The unexpected findings in the complementary examinations led us to diagnose AAT deficiency and to the discovery of a new mutation with the SERPIN A1 gene (hence named Q0Ourém) responsible for the disease. Augmentation therapy was initiated, as is the protocol in this condition. Eighteen years after the diagnosis, the patient is clinically stable, fully autonomous and maintaining an acceptable quality of life, despite severe obstructive lung disease.