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Short case assessments
PAEDIATRIC RESPIRATORY REVIEWS (2000) 1, 81–83 doi:10.1053/prrv.2000.0016, available online at http://www.idealibrary.com on
SELF ASSESSMENT
Short case assessments CASE 1: ASSESSMENT Chronic wet cough 1) The most likely diagnosis is one of primary ciliary dyskinesia. Neonatal respiratory distress in a term infant is not an uncommon presenting feature of primary ciliary dyskinesia. The fact the parents are related also increases the likelihood of an inherited disease such as primary ciliary dyskinesia. A combination of a moist cough with nasal discharge starting in the neonatal period is strongly suggestive. This patient also has a hearing deficit due to glue ear which occurs in over 50% of these patients. Additional investigations showed him to have a normal full blood count and normal levels of immunoglobulins, complement and functional antibody responses to common bacterial pathogens. The diagnosis of primary ciliary dyskinesia may be delayed for a number of reasons. a)
The young child is unable to cough up and spit out sputum. b) Chronic endobronchial infection and inflammation is rarely associated with pyrexia. c) Chest examination and auscultation is usually entirely normal until later in life. d) Chest x-ray may be relatively unremarkable with only 50% of the patients having situs inversus. e) The patients are too young to perform reliable spirometry. Thus a persistent wet sounding cough with nasal blockage or discharge may be the only features in this age group. The child with a wet sounding cough of greater than 6 weeks duration in early childhood is abnormal and should be reviewed and investigated as necessary. 2) Assessment of both ciliary structure and function is the most reliable way to make the diagnosis of primary ciliary dyskinesia. Ciliated epithelium is obtained by nasal brush biopsy of the inferior turbinate. The sample is then processed to look at the ciliary beat frequency and beat pattern, where available, and assessment of ciliary ultrastructure by transmission electron microscopy. In the case described, the cilia were found to beat at a frequency of 9Hz (Normal 11–15 Hz) with a dyskinetic beat pattern on slow motion replay. Ultrastructural analysis revealed the absence of inner dynein arms (Fig. 2c page 29 of this issue). 3) Management of primary ciliary dyskinesia has been reviewed in detail by Bush and colleagues.1 The mainstay 1526–0550/00/010081 + 03 $35.00/0
of treatment involves the combination of daily chest physiotherapy, the early use of antibiotics for respiratory exacerbations and annual flu vaccination. Patients should be seen regularly and be monitored on each occasion with lung spirometry. Hearing assessments should be performed in younger children. Conservative management
Table 1 Case 1. Age-related presentation of primary ciliary dyskinesia. • Neonatal Moist sounding cough Nasal discharge Unexplained respiratory distress or neonatal chest infection. Situs inversus Congenital anomalies; Cardiac defects, hydrocephalus, oesophageal atresia, biliary atresia • Childhood Chronic wet cough Nasal discharge Bronchiectasis Atypical asthma failing to respond to treatment Hearing impairment due to chronic otitis media Situs inversus Learning difficulties • Adulthood Chronic wet cough Nasal discharge Bronchiectasis Male infertility due to impaired sperm motility Ectopic pregnancy
PRACTICE POINTS
• • • • •
A child with a persistent wet cough is abnormal in childhood. The diagnosis of primary ciliary dyskinesia is frequently delayed. Delay in diagnosis is associated with a significant decline in lung function. Symptoms are often reported in the neonatal period and include a chronic nasal discharge and a moist cough. Assessment of both ciliary structure and function is the most reliable way to make the diagnosis of primary ciliary dyskinesia.
© 2000 Harcourt Publishers Ltd
82
SELF ASSESSMENT: SHORT CASE ASSESSMENTS
using hearing aids may be more beneficial in the management of glue ear. As the child grows hearing tends to improve as the eustachian tube enlarges. Grommet insertion may result in a persistent ear discharge.1
REFERENCES 1) 2) 3)
Bush A, Cole PJ, Hariri M et al. Primary ciliary dyskinesia: diagnosis and standards of care. Eur Resp J 1998; 12: 982–988. Schidlow DV. Primary ciliary dyskinesia (the immotile cilia syndrome). Ann Allergy 1994; 73: 457–468. Meeks M, Bush A. Primary ciliary dyskinesia Curr Paediatr 1998; 8: 231–236.
show the sequestrated segment and are useful in excluding other diagnoses and demonstrating coexisting abnormalities, as well as showing the abnormal systemic arterial supply in some cases. Failure to demonstrate an arterial supply does not exclude sequestration however. Prior to surgery angiography may be required to delineate the arterial supply more clearly. The morbidity from sequestration is low if the segment is resected prior to repeated chest infections but once chest infections have started to occur the morbidity rises.
PRACTICE POINTS CASE SUBMITTED BY: M.A. Chilvers and C. O’Callaghan Department of Child Health, University of Leicester, School of Medicine, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, PO Box 65, Leicester LE2 7LX, UK
• • •
CASE 2:ASSESSMENT
Recurrent chest infections at the same site or failure of an infection to resolve should raise the suspicion of an underlying cause. Pulmonary sequestrations are most common at the left base. Pulmonary sequestrations may be associated with other congenital abnormalities.
Chest X-ray Chest radiograph shows consolidation at both lung bases but with a denser lesion showing cavitation at the left base. A CT scan confirmed the bilateral consolidation and showed the cavitation in the left lower lobe. Following intravenous contrast no abnormal blood supply to the lesion in the left lower lobe was shown but as the appearances were highly suggestive of a pulmonary sequestration, angiography was performed and this showed a systemic supply to the sequestrated segment from the intercostal arteries. The left lower lobe was removed and sequestration confirmed. The history of recurrent chest infection in a child should raise the suspicion of an underlying cause such as a congenital abnormality, inhaled foreign body, aspiration or bronchiectasis. In pulmonary sequestration, an opacity is seen on the chest radiograph and the most common site is the left base, although sequestrations have also been recorded elsewhere in the lungs including the upper lobes. Once infection has occurred a communication with the bronchial tree may develop and cavitation may be seen. There are two types of sequestration, extralobar and intralobar. With extralobar sequestration there is a covering of visceral pleura separating it from the rest of the lung, whereas with intralobar types the sequestration is contained within the pleura of the affected lobe. Extralobar sequestrations drain via systemic veins into the azygos system whereas intralobar sequestrations drain to the pulmonary veins. Sequestration may be associated with other congenital abnormalities such as Scimitar syndrome, diaphragmatic hernia, cystic adenomatoid malformation and gastric duplication. Ultrasound may be useful in showing the sequestrated segment at the lung base and may show the abnormal systemic supply. Contrast enhanced CT and also MRI will
REFERENCE 1)
John P R, Beasley S W, Mayne V. Pulmonary sequestration and related congenital disorders. Pediatric Radiology 1989; 20: 4–9.
CASE SUBMITTED BY: H.Alton Birmingham Children’s Hospital, Steelhouse Lane, Birmingham B4 6NH, UK
CASE 3:ASSESSMENT Systemic illness and the chest 1) Fibrosing alveolitis 2) Lymphoid interstitial pneumonitis, histiocytosis, haemosiderosis 3) Low PaO2, low PCO2, normal pH 4) Lung biopsy 5) Corticosteroids and hydroxychloroquine CASE SUBMITTED BY: R. Dinwiddie Department of Respiratory Disease, Hospital for Children, Great Ormond Street, London WCIN 3JH, UK
CASE 4:ASSESSMENT Pneumonia 1.
There is extensive shadowing in the left lung with loss of the left hemidiaphragm behind the heart. There are two radiolucent opacities; one just above the diaphragm on the left and the other at the apex of the shadowing on the left.
SELF ASSESSMENT: SHORT CASE ASSESSMENTS
2.
In view of the persistent fever in this child and the development of radiolucent opacities within the consolidated area, further radiological examination of the chest is indicated. The radiolucent areas could indicate pneumatoceles or abscess cavities. In this case, ultrasound of the chest revealed a 3-cm deep pleural collection. This empyema was drained and the pyrexia settled within 48 hours. Staphylococcus aureus was grown on extended culture. The pneumatoceles gradually reabsorbed.
PRACTICE POINTS
• • •
Persisting pyrexia on appropriate treatment warrants further investigation. Empyema is the commonest complication in bacterial pneumonia. Pneumatoceles are commonly found in S. pneumonia.
CASE SUBMITTED BY: A. H.Thomson Department of Paediatrics, John Radcliffe Hospital, Headley Way, Oxford OX3 9DV, UK
CASE 5:ASSESSMENT Intrapulmonary haemorrhage 1) The presence of hemosiderin laden macrophages confirms that there has been a genuine intrapulmonary
83
haemorrhage. It is sometimes difficult to determine the origin of blood that has been spat out of the mouth. Not infrequently bleeding occurs as a result of ruptured blood vessels overlying inflamed tonsils. The finding of an increased neutrophil count is non specific, but does suggest the presence of an associated inflammatory process. The presence of rash, arthralgia and haematuria further suggested that this be a connective tissue disorder. 2) Further investigations included measurements of inflammatory markers and an auto-immune profile. This revealed an elevated titre of anti-neutrophil cytoplasmic antibodies (ANCAs) suggestive of Wegener’s Granulomatosis. BAL neutrophilia is characteristic of this particular connective tissue disorder. Histological confirmation of the diagnosis prior to anti-inflammatory therapies was deemed necessary and this was achieved by biopsying skin lesions thus obviating the need for a more invasive renal or lung biopsy. Follow up of disease activity was achieved through repeat measures of serum ANCAs and C reactive protein plus sequential measurements of lung volumes and gas transfer. CASE SUBMITTED BY: G. Connett Paediatric Medical Unit,Tremona Road, Southampton SO16 6YD, UK
SELF ASSESSMENT
Short case assessments CASE 1: ASSESSMENT Chronic wet cough 1) The most likely diagnosis is one of primary ciliary dyskinesia. Neonatal respiratory distress in a term infant is not an uncommon presenting feature of primary ciliary dyskinesia. The fact the parents are related also increases the likelihood of an inherited disease such as primary ciliary dyskinesia. A combination of a moist cough with nasal discharge starting in the neonatal period is strongly suggestive. This patient also has a hearing deficit due to glue ear which occurs in over 50% of these patients. Additional investigations showed him to have a normal full blood count and normal levels of immunoglobulins, complement and functional antibody responses to common bacterial pathogens. The diagnosis of primary ciliary dyskinesia may be delayed for a number of reasons. a)
The young child is unable to cough up and spit out sputum. b) Chronic endobronchial infection and inflammation is rarely associated with pyrexia. c) Chest examination and auscultation is usually entirely normal until later in life. d) Chest x-ray may be relatively unremarkable with only 50% of the patients having situs inversus. e) The patients are too young to perform reliable spirometry. Thus a persistent wet sounding cough with nasal blockage or discharge may be the only features in this age group. The child with a wet sounding cough of greater than 6 weeks duration in early childhood is abnormal and should be reviewed and investigated as necessary. 2) Assessment of both ciliary structure and function is the most reliable way to make the diagnosis of primary ciliary dyskinesia. Ciliated epithelium is obtained by nasal brush biopsy of the inferior turbinate. The sample is then processed to look at the ciliary beat frequency and beat pattern, where available, and assessment of ciliary ultrastructure by transmission electron microscopy. In the case described, the cilia were found to beat at a frequency of 9Hz (Normal 11–15 Hz) with a dyskinetic beat pattern on slow motion replay. Ultrastructural analysis revealed the absence of inner dynein arms (Fig. 2c page 29 of this issue). 3) Management of primary ciliary dyskinesia has been reviewed in detail by Bush and colleagues.1 The mainstay 1526–0550/00/010081 + 03 $35.00/0
of treatment involves the combination of daily chest physiotherapy, the early use of antibiotics for respiratory exacerbations and annual flu vaccination. Patients should be seen regularly and be monitored on each occasion with lung spirometry. Hearing assessments should be performed in younger children. Conservative management
Table 1 Case 1. Age-related presentation of primary ciliary dyskinesia. • Neonatal Moist sounding cough Nasal discharge Unexplained respiratory distress or neonatal chest infection. Situs inversus Congenital anomalies; Cardiac defects, hydrocephalus, oesophageal atresia, biliary atresia • Childhood Chronic wet cough Nasal discharge Bronchiectasis Atypical asthma failing to respond to treatment Hearing impairment due to chronic otitis media Situs inversus Learning difficulties • Adulthood Chronic wet cough Nasal discharge Bronchiectasis Male infertility due to impaired sperm motility Ectopic pregnancy
PRACTICE POINTS
• • • • •
A child with a persistent wet cough is abnormal in childhood. The diagnosis of primary ciliary dyskinesia is frequently delayed. Delay in diagnosis is associated with a significant decline in lung function. Symptoms are often reported in the neonatal period and include a chronic nasal discharge and a moist cough. Assessment of both ciliary structure and function is the most reliable way to make the diagnosis of primary ciliary dyskinesia.
© 2000 Harcourt Publishers Ltd
82
SELF ASSESSMENT: SHORT CASE ASSESSMENTS
using hearing aids may be more beneficial in the management of glue ear. As the child grows hearing tends to improve as the eustachian tube enlarges. Grommet insertion may result in a persistent ear discharge.1
REFERENCES 1) 2) 3)
Bush A, Cole PJ, Hariri M et al. Primary ciliary dyskinesia: diagnosis and standards of care. Eur Resp J 1998; 12: 982–988. Schidlow DV. Primary ciliary dyskinesia (the immotile cilia syndrome). Ann Allergy 1994; 73: 457–468. Meeks M, Bush A. Primary ciliary dyskinesia Curr Paediatr 1998; 8: 231–236.
show the sequestrated segment and are useful in excluding other diagnoses and demonstrating coexisting abnormalities, as well as showing the abnormal systemic arterial supply in some cases. Failure to demonstrate an arterial supply does not exclude sequestration however. Prior to surgery angiography may be required to delineate the arterial supply more clearly. The morbidity from sequestration is low if the segment is resected prior to repeated chest infections but once chest infections have started to occur the morbidity rises.
PRACTICE POINTS CASE SUBMITTED BY: M.A. Chilvers and C. O’Callaghan Department of Child Health, University of Leicester, School of Medicine, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, PO Box 65, Leicester LE2 7LX, UK
• • •
CASE 2:ASSESSMENT
Recurrent chest infections at the same site or failure of an infection to resolve should raise the suspicion of an underlying cause. Pulmonary sequestrations are most common at the left base. Pulmonary sequestrations may be associated with other congenital abnormalities.
Chest X-ray Chest radiograph shows consolidation at both lung bases but with a denser lesion showing cavitation at the left base. A CT scan confirmed the bilateral consolidation and showed the cavitation in the left lower lobe. Following intravenous contrast no abnormal blood supply to the lesion in the left lower lobe was shown but as the appearances were highly suggestive of a pulmonary sequestration, angiography was performed and this showed a systemic supply to the sequestrated segment from the intercostal arteries. The left lower lobe was removed and sequestration confirmed. The history of recurrent chest infection in a child should raise the suspicion of an underlying cause such as a congenital abnormality, inhaled foreign body, aspiration or bronchiectasis. In pulmonary sequestration, an opacity is seen on the chest radiograph and the most common site is the left base, although sequestrations have also been recorded elsewhere in the lungs including the upper lobes. Once infection has occurred a communication with the bronchial tree may develop and cavitation may be seen. There are two types of sequestration, extralobar and intralobar. With extralobar sequestration there is a covering of visceral pleura separating it from the rest of the lung, whereas with intralobar types the sequestration is contained within the pleura of the affected lobe. Extralobar sequestrations drain via systemic veins into the azygos system whereas intralobar sequestrations drain to the pulmonary veins. Sequestration may be associated with other congenital abnormalities such as Scimitar syndrome, diaphragmatic hernia, cystic adenomatoid malformation and gastric duplication. Ultrasound may be useful in showing the sequestrated segment at the lung base and may show the abnormal systemic supply. Contrast enhanced CT and also MRI will
REFERENCE 1)
John P R, Beasley S W, Mayne V. Pulmonary sequestration and related congenital disorders. Pediatric Radiology 1989; 20: 4–9.
CASE SUBMITTED BY: H.Alton Birmingham Children’s Hospital, Steelhouse Lane, Birmingham B4 6NH, UK
CASE 3:ASSESSMENT Systemic illness and the chest 1) Fibrosing alveolitis 2) Lymphoid interstitial pneumonitis, histiocytosis, haemosiderosis 3) Low PaO2, low PCO2, normal pH 4) Lung biopsy 5) Corticosteroids and hydroxychloroquine CASE SUBMITTED BY: R. Dinwiddie Department of Respiratory Disease, Hospital for Children, Great Ormond Street, London WCIN 3JH, UK
CASE 4:ASSESSMENT Pneumonia 1.
There is extensive shadowing in the left lung with loss of the left hemidiaphragm behind the heart. There are two radiolucent opacities; one just above the diaphragm on the left and the other at the apex of the shadowing on the left.
SELF ASSESSMENT: SHORT CASE ASSESSMENTS
2.
In view of the persistent fever in this child and the development of radiolucent opacities within the consolidated area, further radiological examination of the chest is indicated. The radiolucent areas could indicate pneumatoceles or abscess cavities. In this case, ultrasound of the chest revealed a 3-cm deep pleural collection. This empyema was drained and the pyrexia settled within 48 hours. Staphylococcus aureus was grown on extended culture. The pneumatoceles gradually reabsorbed.
PRACTICE POINTS
• • •
Persisting pyrexia on appropriate treatment warrants further investigation. Empyema is the commonest complication in bacterial pneumonia. Pneumatoceles are commonly found in S. pneumonia.
CASE SUBMITTED BY: A. H.Thomson Department of Paediatrics, John Radcliffe Hospital, Headley Way, Oxford OX3 9DV, UK
CASE 5:ASSESSMENT Intrapulmonary haemorrhage 1) The presence of hemosiderin laden macrophages confirms that there has been a genuine intrapulmonary
83
haemorrhage. It is sometimes difficult to determine the origin of blood that has been spat out of the mouth. Not infrequently bleeding occurs as a result of ruptured blood vessels overlying inflamed tonsils. The finding of an increased neutrophil count is non specific, but does suggest the presence of an associated inflammatory process. The presence of rash, arthralgia and haematuria further suggested that this be a connective tissue disorder. 2) Further investigations included measurements of inflammatory markers and an auto-immune profile. This revealed an elevated titre of anti-neutrophil cytoplasmic antibodies (ANCAs) suggestive of Wegener’s Granulomatosis. BAL neutrophilia is characteristic of this particular connective tissue disorder. Histological confirmation of the diagnosis prior to anti-inflammatory therapies was deemed necessary and this was achieved by biopsying skin lesions thus obviating the need for a more invasive renal or lung biopsy. Follow up of disease activity was achieved through repeat measures of serum ANCAs and C reactive protein plus sequential measurements of lung volumes and gas transfer. CASE SUBMITTED BY: G. Connett Paediatric Medical Unit,Tremona Road, Southampton SO16 6YD, UK