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83 – Primary ciliary dyskinesia in children: about 12 cases
S296
C2/141 – Idiopathic pulmonary haemosiderosis: report of 9 cases M. Khemiri, F. Khaldi, M. Ouederni and S. Barsaoui Service Me´decine infantile A, Children Hospital Bab Saadoun of Tunis, Tunisia Idiopathic pulmonary haemosiderosis(IPH) is a rare disorder in children of unknown aetiopathogeny characterized by a triad of recurrent episodes of alveolar haemorrhage, haemoptysis and iron deficiency anemia. The aim of this report is to determine clinical characteristics of IPH and its association with celiac disease (CD).
POSTER PRESENTATIONS
C3/83 – Primary ciliary dyskinesia in children: about 12 cases S. Hamouda1, K.h. Boussetta1, A. Hamzaoui2, A. Zhiwa3 and S. Bousnina1 1 Hoˆpital d’Enfants de Tunis Service de Me´decine Infantile B, Tunis, Tunisia; 2Hoˆpital Abderrahmen Mami Service de Pneumologie, L’Ariana, Tunisia; 3Faculte´ de Me´decine de Tunis Laboratoire d’Histologie, Tunis, Tunisia Primary ciliary dyskinesia (PCD) is a rare inherited disorder. The purpose of this retrospective study is to analyze clinical, radiological, cytological and follow-up features of PCD in 12 children.
PATIENTS AND METHODS
PATIENTS AND METHODS
We review here a series of 9 cases of IPH treated at Children Hospital of Tunis between January the 1st 1976 to December the 31st 2004. All patients were investigated regarding to celiac disease.
Six patients were collected in the ‘‘Service de Me´decine Infantile B’’ and six in the ‘‘Service de Pneumologie’’ over a 7-year period (1996–2002). Clinical data were reported for each child. At diagnosis, all patients had a chest radiograph, 11 a thoracic scan, 2 a heart ultrasound, 2 a saccharin test and 4 pulmonary function tests. In all cases, diagnosis was established by an ultrastructure study of nasal (n = 4) or bronchial (n = 8) ciliated cells by electron microscopy. The follow-up included physical examination, regular sputum culture (n = 2), radiographic exams (n = 4) and pulmonary function tests (n = 4).
RESULTS 9 children (2 males and 7 females) had IPH. 6/9 patients were consanguineous. The mean age at diagnosis was 3.1 years (3 months–11 years). Respiratory symptoms were : cough (n = 9), haemoptysis (n = 6) secondly appeared in 2 cases and dyspnea (n = 6) associated to bilateral pulmonary infiltrates on chest radiographs (n = 9). All patients had recurrent episodes of fever and anemia syndrome with pallor and asthenia (n = 9). The mean rate of haemoglobin was 4.9 g/dl (2.3–9 g/dl).. Diagnosis of IPH was confirmed based on the presence of hemosiderin laden macrophages in bronchoalveolar lavage fluid (n = 4/9) and in gastric washing fluid (n = 7/9). Three patients had symptomatic celiac disease revealed by chronic diarrhea (n = 2), abdominal meteorism (n = 1) and then confirmed by biological and histological examinations. One patient has vitiligo while another has cardiomyopathy. All patients received corticosteroids associated to gluten free diet in patients with celiac disease. Two patients required azathioprine treatment. Patients were evaluated after mean follow up of 6.7 years (8 months–14 years). Clinical and radiological course improved markedly in all patients while lung function was compromised in three of them. Both symptoms of IPH and CD relapsed in one patient who stopped gluten free diet.
RESULTS Out of our 12 patients, 8 were male and 4 were female (sex ratio = 2). The mean age at diagnosis was 6.5 years (3 months–13 years). The average time between symptoms and diagnosis was 4 years and 4 months (3 months– 11 years). PCD was often revealed by recurrent lower respiratory infection. Five children had also upper airway disease. Two patients had situs inversus corresponding to Kartagener’s syndrome. Bronchiectases were present at diagnosis in 4 children. The main ultrastructure abnormality was the absence of inner dynein arms (n = 9) isolated or associated to other axonemal defects. All the children had medical care. Out of the 12 children 9 were followed up for 4 years on average (1 year–7 years). Three patients developed bronchiectasis and 1 child a pulmonary hypertension. One child with chronic respiratory insufficiency at diagnosis died at the age of 13.
CONCLUSION IPH is an uncommon disorder in children. Although the association of IPH and CD has been rarely reported, it occurs in 1/3 of patients in our series. These data illustrate close aetiopathogenic link between IPH and CD and lead to look for specifically celiac disease in IPH.
CONCLUSION
DOI: 10.1016/j.prrv.2006.04.072
DOI: 10.1016/j.prrv.2006.04.073
PCD diagnosis often takes place too late. An early diagnosis is needed to improve the PCD prognosis.
C2/141 – Idiopathic pulmonary haemosiderosis: report of 9 cases M. Khemiri, F. Khaldi, M. Ouederni and S. Barsaoui Service Me´decine infantile A, Children Hospital Bab Saadoun of Tunis, Tunisia Idiopathic pulmonary haemosiderosis(IPH) is a rare disorder in children of unknown aetiopathogeny characterized by a triad of recurrent episodes of alveolar haemorrhage, haemoptysis and iron deficiency anemia. The aim of this report is to determine clinical characteristics of IPH and its association with celiac disease (CD).
POSTER PRESENTATIONS
C3/83 – Primary ciliary dyskinesia in children: about 12 cases S. Hamouda1, K.h. Boussetta1, A. Hamzaoui2, A. Zhiwa3 and S. Bousnina1 1 Hoˆpital d’Enfants de Tunis Service de Me´decine Infantile B, Tunis, Tunisia; 2Hoˆpital Abderrahmen Mami Service de Pneumologie, L’Ariana, Tunisia; 3Faculte´ de Me´decine de Tunis Laboratoire d’Histologie, Tunis, Tunisia Primary ciliary dyskinesia (PCD) is a rare inherited disorder. The purpose of this retrospective study is to analyze clinical, radiological, cytological and follow-up features of PCD in 12 children.
PATIENTS AND METHODS
PATIENTS AND METHODS
We review here a series of 9 cases of IPH treated at Children Hospital of Tunis between January the 1st 1976 to December the 31st 2004. All patients were investigated regarding to celiac disease.
Six patients were collected in the ‘‘Service de Me´decine Infantile B’’ and six in the ‘‘Service de Pneumologie’’ over a 7-year period (1996–2002). Clinical data were reported for each child. At diagnosis, all patients had a chest radiograph, 11 a thoracic scan, 2 a heart ultrasound, 2 a saccharin test and 4 pulmonary function tests. In all cases, diagnosis was established by an ultrastructure study of nasal (n = 4) or bronchial (n = 8) ciliated cells by electron microscopy. The follow-up included physical examination, regular sputum culture (n = 2), radiographic exams (n = 4) and pulmonary function tests (n = 4).
RESULTS 9 children (2 males and 7 females) had IPH. 6/9 patients were consanguineous. The mean age at diagnosis was 3.1 years (3 months–11 years). Respiratory symptoms were : cough (n = 9), haemoptysis (n = 6) secondly appeared in 2 cases and dyspnea (n = 6) associated to bilateral pulmonary infiltrates on chest radiographs (n = 9). All patients had recurrent episodes of fever and anemia syndrome with pallor and asthenia (n = 9). The mean rate of haemoglobin was 4.9 g/dl (2.3–9 g/dl).. Diagnosis of IPH was confirmed based on the presence of hemosiderin laden macrophages in bronchoalveolar lavage fluid (n = 4/9) and in gastric washing fluid (n = 7/9). Three patients had symptomatic celiac disease revealed by chronic diarrhea (n = 2), abdominal meteorism (n = 1) and then confirmed by biological and histological examinations. One patient has vitiligo while another has cardiomyopathy. All patients received corticosteroids associated to gluten free diet in patients with celiac disease. Two patients required azathioprine treatment. Patients were evaluated after mean follow up of 6.7 years (8 months–14 years). Clinical and radiological course improved markedly in all patients while lung function was compromised in three of them. Both symptoms of IPH and CD relapsed in one patient who stopped gluten free diet.
RESULTS Out of our 12 patients, 8 were male and 4 were female (sex ratio = 2). The mean age at diagnosis was 6.5 years (3 months–13 years). The average time between symptoms and diagnosis was 4 years and 4 months (3 months– 11 years). PCD was often revealed by recurrent lower respiratory infection. Five children had also upper airway disease. Two patients had situs inversus corresponding to Kartagener’s syndrome. Bronchiectases were present at diagnosis in 4 children. The main ultrastructure abnormality was the absence of inner dynein arms (n = 9) isolated or associated to other axonemal defects. All the children had medical care. Out of the 12 children 9 were followed up for 4 years on average (1 year–7 years). Three patients developed bronchiectasis and 1 child a pulmonary hypertension. One child with chronic respiratory insufficiency at diagnosis died at the age of 13.
CONCLUSION IPH is an uncommon disorder in children. Although the association of IPH and CD has been rarely reported, it occurs in 1/3 of patients in our series. These data illustrate close aetiopathogenic link between IPH and CD and lead to look for specifically celiac disease in IPH.
CONCLUSION
DOI: 10.1016/j.prrv.2006.04.072
DOI: 10.1016/j.prrv.2006.04.073
PCD diagnosis often takes place too late. An early diagnosis is needed to improve the PCD prognosis.