Thyroglobulin gene mutation with cold nodule on thyroid scintigraphy.

Thyroglobulin gene mutation is a rare cause of congenital hypothyroidism, but thyroglobulin gene mutations are thought to be associated with thyroid cancer development. A 21-year-old Japanese man treated with levothyroxine for congenital hypothyroidism had an enlarged thyroid gland with undetectable serum thyroglobulin despite elevated serum TSH level. The patient was diagnosed with thyroglobulin gene mutation, with compound heterozygosity for Gly304Cys missense mutation and Arg432X nonsense mutation. Ultrasonography showed a hypovascular large tumor in the left lobe that appeared as a cold nodule on thyroid scintigraphy. He underwent total thyroidectomy, but pathological study did not reveal findings of thyroid carcinoma, but rather a hyperplastic nodule with hemorrhage. Strong cytoplasmic thyroglobulin immunostaining was observed, but sodium iodide symporter immunostaining was hardly detected in the hyperplastic nodule. The clinical characteristics of patients with thyroglobulin gene mutations are diverse, and some patients are diagnosed by chance on examination of goiter in adults. The presence of thyroid tumors that appear as cold nodules on thyroid scintigraphy should consider the potential for thyroid carcinoma, if the patient has relatively low serum thyroglobulin concentration in relation to the degree of TSH without thyroglobulin autoantibody.

Toxic multinodular goiter with low radioactive iodine uptake.

A 74-year-old woman was referred to our hospital for goiter and persistent thyrotoxicosis. She had no signs of ophthalmopathy. She was not taking thyroid hormone. Thyroid CT revealed multiple nodules. The thyroid gland was not detected on (99m)Tc scintigraphy, (123)I uptake rate was 4.5% at 24 hours without hot nodules, and aberrant goiter was negative. After partial thyroidectomy, she was treated with levothyroxine. TRAb was undetectable during the disease course, and focal destructive change or chronic lymphocytic thyroiditis on the pathological specimens was not evident. We report a rare case of toxic multinodular goiter with low radioactive iodine uptake.

[A case of idiopathic pulmonary alveolar proteinosis with multiple localized ground-glass opacities].

A 58-year-old Japanese female consulted our staff with multiple localized ground-glass opacities in chest CT. She underwent video assisted thoracoscopic surgery for diagnosis. Histopathologic finding from surgery specimen in one of ground-glass opacities revealed bronchioloalveolar carcinoma. Six months later, we performed second video assisted thoracoscopic surgery, and histopathologic finding of all other ground-glass opacities revealed pulmonary alveolar proteinosis. Serum anti GM-CSF antibody elevated, and she was diagnosed as having idiopathic pulmonary alveolar proteinosis. A case of idiopathic pulmonary alveolar proteinosis presenting multiple localized ground-glass opacities is rare. And, differentiating ground-glass opacities of pulmonary alveolar proteinosis and bronchioloalveolar carcinoma by chest CT is difficult.

[A case of cystic bronchial typical carcinoid].

A 53-year-old man was admitted with a nodular lesion on chest radiograph. Chest CT scan showed a cystic nodule in right S4 which gradually enlarged during follow-up without therapy. Two years after the first examination, we performed middle lobectomy using video assisted thoracoscopy. Histologically, the tumor was found to be typical carcinoid by immunostaining.

[A case of Wegener's granulomatosis without PR3-ANCA at relapse].

A 49-year-old man was admitted to our hospital with fever. His chest radiograph showed some nodules in the right upper and lower lung fields. The cytoplasmic-antineutrophil cytoplasmic antibody test was positive, and histopathologic biopsy of a small nasal polyps yielded a diagnosis of Wegener's granulomatosis. He was started on prednisolone and cyclophosphamide. The findings on his chest radiograph and his symptoms improved rapidly, and we stopped these drugs after one year. Two years after cessation of treatment, his chest radiograph showed two nodules with cavities. Relapse of Wegener's granulomatosis was diagnosed. The proteinase 3-antineutrophil cytoplasmic antibody test was negative. He was started on prednisolone and cyclophosphamide, and the findings on his chest radiograph improved rapidly. Chest radiographs are useful for follow-up observation of patients with Wegener's granulomatosis after treatment.

[Case of allergic bronchopulmonary aspergillosis triggered by relocation of residence].

A 22-year-old woman has been treated with inhaled corticosteroid for bronchial asthma. Her family moved house to Toyama prefecture in March 2003, and she was enrolled in our hospital. Her chest radiograph on first medical examination showed the right upper lobe infiltration. Bronchoscopy revealed a mucoid impaction at right B2, and Aspergillus fumigatus was cultured from suctioning of pulmonary secretions. Histopathologic findings from transbronchial biopsy revealed eosinophilic pneumonitis but not Aspergillus fumigatus. She was diagnosed allergic bronchopulmonary aspergillosis, and she was started on prednisolone 40 mg/day. The finding of her chest radiograph improved in two weeks. This case suggested that allergic bronchopulmonary aspergillosis was triggered by moving house with exposure of Aspergillus fumigatus. We should give guidance to asthmatics to wear a dust respirator at work in dust-laden environment.

[A case of hypersensitivity pneumonitis caused by Lyophyllum karst].

A 52-year-old woman who has worked at factory to check pack Lyophyllum karst for six years consulted another doctor for dry cough as common cold. After a month, low grade fever, dyspnea on effort, and productive cough brought her to our hospital. Her chest radiographs showed multiple small nodular shadows and ground glass opacities in entire lung fields. Histopathological examination of transbronchial lung biopsy specimen revealed granuloma and thickening of alveolar septa with lymphocytes infiltration. She was admitted to our hospital for hypersensitivity pneumonitis and prescribed predonisorone 30 mg/day. Her symptoms and the finding of chest radiograph improved in two weeks. The precipitation antibodies to Lyophyllum karst were positive and the symptoms exacerbated by going to work. Those finding suggests that hypersensitivity pneumonitis in this case. After quitting her job, she has had no relapse by tapering steroids.

[Central diabetes insipidus caused by pituitary metastasis of lung cancer].

A 53-year-old man admitted for thirst, polyposia, and polyuria. Large cell lung cancer T3N2M1 (Stage IV), and central diabetes insipidus caused by pituitary metastasis of lung cancer, were diagnosed. We gave him desmopressin acetate, and chemotherapy with paclitaxel and carboplatin. But pituitary metastasis increased and invaded the hypothalamus. After irradiation of the pituitary and hypothalamus, metastatic focus diminished and desmopressin acetate was tapered.

[Hypopituitarism caused by hypothalamic metastasis of lung cancer].

A 40-year-old man was admitted due to thirst, general malaise, and swollen cervical lymph nodes. Cervical lymph node biopsy revealed moderately differentiated adenocarcinoma, and he was diagnosed lung cancer with hypothalamic metastasis. We gave him chemotherapy and hypothalamic irradiation. He had mild hydrodipsia at the first examination, which progressively worsened. He was given a diagnosis of diabetes insipidus caused by hypothalamic metastasis. We gave him desmopressin acetate, and his symptom improved. Predonisolone was prescribed, because of low levels of adrenocorticotropic hormone in the blood. After chemotherapy and irradiation of hypothalamus, metastatic focus diminished and desmopressin acetate was tapered. Hypopituitarism caused by hypothalamic metastasis is rare.

[Pulmonary septic emboli in a patient with right-side infectious endocarditis].

An 18-year-old woman afflicted with ventricular septal defect was admitted for high fever and dyspnea. She had undergone no surgical repair. Chest CT showed numerous nodular opacities in both lungs. The majority of them were situated on the pleura. Echocardiography revealed an area of vegetation 20 mm in diameter just beneath the tricuspid valve. Staphylococcus aureus was cultured from venous blood. We diagnosed right-side bacterial infectious endocarditis caused by Staphylococcus aureus and culminating in septic pulmonary emboli. Intravenous panipenem/betamiprom was prescribed, and after 5 weeks, the patient recovered, was negative for C-reactive protein and had a negative venous blood culture. Cardiac septal defect with bacterial endocarditis is a major risk factor in the development of septic pulmonary emboli.

[X-ray-negative endobronchial tuberculosis with persistent irritating cough that resulted in unpredicted mass infection].

A 24-year-old woman was referred to another hospital because of a barking cough, but her chest radiograph showed no abnormality. Although she had been diagnosed as having other diseases and had been given medical treatment, the barking cough continued. Abnormalities of the chest radiograph appeared 11 months later, and endobronchial tuberculosis was diagnosed from the clinical history, chest CT and a sputum smear positive for acid-fast bacilli. We treated her with INH, RFP, EB for 6 months, and PZA for 2 months. However, truncus intermedius became obstructed nine months after treatment ended, and we re-opened it with a Dumon stent after coring it out using a rigid bronchoscope. Since the patient was a teacher, medical checkups of many people were required, and the number of prophylactic treatments carried out was 80. This was regarded as a mass infection. In the early stages, endobronchial tuberculosis may not show any abnormality on chest radiography, but may still cause mass infection. When a barking cough continues for a long time, endobronchial tuberculosis must be suspected, and examination of a sputum smear for acid-fast bacilli, as well as a sputum culture is necessary.

[Diffuse alveolar damage after inhalation of zinc oxide fumes].

A 57-year-old man with a 37-year occupational history of welding was admitted for high fever and dyspnea after inhalation of zinc oxide fumes during a period of welding without a protective mask. Chest radiography and CT showed bilateral diffuse ground-glass opacities, and blood gas analysis revealed that PaO2 was 48.1 torr in room air. A transbronchial lung biopsy was done, and revealed diffuse alveolar damage. We diagnosed the case as chemical pneumonia due to the inhalation of zinc oxide, and prescribed prednisolone 40 mg per day. As a result, his symptoms improved within several days. The inhalation of zinc oxide fume usually causes metal fume fever, but chemical pneumonia is also reported on rare occasions. As far as our examination of the literature has disclosed, this is the first report of diffuse alveolar damage after inhalation of zinc oxide fume.