Deniz Doğru Ersöz

Long-term results of disodium etidronate treatment in pulmonary alveolar microlithiasis.

Pulmonary alveolar microlithiasis (PAM) is a rare disease with alveolar microliths mainly composed of calcium phosphate. The gene responsible for the disease is SLC34A2, which encodes a type‐IIb sodium phosphate cotransporter, has been described recently. Treatment of this disease is not clearly defined. Disodium etidronate is a member of bisphonates and it has been administered in these patients due to its inhibitory effect on the precipitation of hydroxyapatite microcrystals. Here, clinical and radiological improvement of two patients with PAM who were treated with disodium etidronate for 9 and 11 years, respectively, are presented. The pathogenetic mechanism of this treatment on the genetic basis of disease is discussed. Pediatr Pulmonol. 2010; 45:514–517.

Different features of lung involvement in Niemann-Pick disease and Gaucher disease

BACKGROUND Niemann-Pick disease (NPD) and Gaucher disease (GD) are well-known lysosomal storage diseases. Respiratory system involvement is an important cause of morbidity and mortality in patients with NPD and GD. OBJECTIVES We tried to assess the clinical, radiological, and histological features of GD and NPD patients with lung involvement. METHODS We reviewed medical history, physical examination, radiological, and histological data of 10 NPD and 7 GD patients. RESULTS The most common respiratory symptoms were recurrent lung infection and dyspnea. Although lung examination results in 6 NPD patients were normal, they had lung involvement; 3 patients were diagnosed as NPD directly via lung biopsy during investigation of recurrent lung infection or interstitial lung disease. All GD patients but 1 had respiratory system symptoms at the time of diagnosis. Hepatopulmonary syndrome was present in 4 GD patients. A ground-glass pattern and atelectasis were 2 important high-resolution computed tomography features in the NPD and GD patients. Flexible bronchoscopy and bronchoalveolar lavage were used for emergency extraction of bronchial casts in 1 NPD patient. CONCLUSIONS Lung involvement in NPD and GD patients should be included in the differential diagnosis of interstitial lung disease. Besides interstitial appearance on HRCT, atelectasis related to bronchial cast and bronchiectasis are other radiological findings in these group of patients. Analysis of bronchoalveolar fluid and lung biopsy provide very important clues for diagnosis. Hepatopulmonary syndrome is an important vascular complication observed in GD patients.

Successful treatment of pulmonary hemangioma with propranolol

Pulmonary hemangioma is a rare benign tumor of the lungs. Airway hemangiomas in particular may lead to feeding difficulties, barking cough, stridor, respiratory distress, and even acute airway obstruction. Hence, such hemangiomas usually require early and aggressive treatment; however, the treatment modalities employed so far have been associated with their own co‐morbidities and potential long‐term adverse effects for the developing child. Here, we report a case of 9‐month‐old girl who presented with dyspnea and diagnosed pulmonary hemangioma in the lower lobe of left lung. Propranolol is now used as a first line treatment for infantile hemangiomas by many practitioners so we experienced propranolol treatment. This case report argues the first case of pulmonary hemangioma treated with propranolol successfully. Pediatr Pulmonol. 2014; 49:829–833.

Effects of blood transfusion on cytokine profile and pulmonary function in patients with thalassemia major.

Thalassemia major (TM) is characterized by abnormal hemoglobin synthesis, which results in decreased oxygen delivery to the tissues, ineffective erythropoiesis and iron overload. The purpose of this study was to find out the predominant type of lung mechanical abnormalities in TM patients, the prevalence of the change in pulmonary diffusing capacity and to search the association of cytokines with pulmonary function tests (PFTs).

Achalasia-like findings in a case with delayed diagnosis of H-type tracheoesophageal fistula

H-type tracheoesophageal fistula (TEF) may lead to chronic respiratory disease if the diagnosis is delayed. Long-standing fistula causes esophageal distention which is named as pneumoesophagus or megaesophagus and possibly affects the motility of the esophageal body which may also be encountered as a part of tracheoesophageal anomalies. Both dysmotility and megaesophagus may mimic achalasia radiologically and the patient may be advised an unnecessary esophagocardiomyotomy. The authors report a 15-year-old adolescent with H-type TEF who has been diagnosed during investigations for chronic respiratory disease due to presumptive diagnosis of achalasia. The authors emphasize that a complete anatomical and functional evaluation of the upper gastrointestinal tract should be done before recommending operation for achalasia in patients with chronic respiratory disease. H-type TEF should be investigated to avoid unnecessary cardiomyotomy.

Pulmonary Mycobacterium abscessus Infection in a Patient with Triple A Syndrome

Gastroesophageal disorders such as achalasia can be associated with pulmonary disorders because of non-tuberculous mycobacteria, frequently masquerading as aspiration pneumonia. The optimal therapeutic regimen and duration of treatment for non-tuberculous mycobacteria lung disease is not well established. Here, we present an 11 year old male patient with Mycobacterium abscessus pulmonary disease and underlying triple A syndrome, who was successfully treated with 2 months of imipenem, amikacin, clarithromycin and continued for long-term antibiotic treatment.