Pediatric Radiology
Pediat. Radiol. 7, 180-182 (1978)
9 by Springer-Verlag1978
Childhood Sarcoidosis with Fatal Cot Pulmonale R. E. M o f f a t 1, R. E. S o b o n y a 2, a n d C. H. J. C h a n g 1 The Departments of 1Diagnostic Radiology and 2Pathology and Oncology, University of Kansas Medical Center, Kansas City, Kansas, USA
Abstract. A 14 y e a r - o l d w h i t e girl w h o d e v e l o p e d fatal c o r p u l m o n a l e f r o m s e v e r e p u l m o n a r y s a r c o i d o s i s h a d a p r e v i o u s clinical d i a g n o s i s o f cystic fibrosis. C h e s t r a d i o g r a p h s d e m o n s t r a t e d m a r k e d p u l m o n a r y fibrosis w i t h o u t t h e c h a n g e s o f s e v e r e b r o n c h i e c t a s i s t h a t w o u l d be a n t i c i p a t e d with cystic fibrosis. Key words: Sarcoidosis - C o r p u l m o n a l e - B r o n c h i ectasis - L u n g d i s e a s e - C y s t i c fibrosis
S a r c o i d o s i s w i t h fatal c o r p u l m o n a l e was f o u n d in a gift t h o u g h t o r i g i n a l l y to h a v e cystic fibrosis. R a d i o l o g i c a l l y , this p a t i e n t d e m o n s t r a t e d m i n i m a l b r o n c h i e c t a t i c c h a n g e relative to the s e v e r e p a r e n c h y m a l disease.
C a s e Report
A 14-year-old white girl was thought to have cystic fibrosis after evaluation at another hospital and was referred to the University of Kansas Cystic Fibrosis Clinic. Over the previous 11/2 years she had experienced insidious onset of shortness of breath, increasing cough and a 6.8 kg weight loss. She was the product of a twin pregnancy complicated by toxemia and weighed 3 pounds 4 ounces at birth. Although the first 3 months of life were spent in the hospital, she subsequently showed relatively normal growth and development. No respiratory or digestive symptoms could be recalled by the parents until the onset of the present illness. No history suggesting respiratory disease in the parents or 6 siblings was obtained. Initial physical examination revealed a frail-appearing girl with moderate clubbing of the fingers. The hemoglobin and hematocrit values were 16.2 gm per 100 ml and 46.2 %, respectively. Immunoglobulin assay was not remarkable. Sweat chloride determinations were consistently normal around 20 mEq/1. Trypsin inhibitory capacity was normal.
0301-0449/78/0007/0180/S01.00
Pulmonary function studies showed a very severe restrictive process with a forced vital capacity of only 0.5 liter. No significant flora were found in initial sputum cultures. Intermediate tuberculin and histoplasmin skin tests showed no reaction. Initial posterior-anterior and lateral chest radiographs (Fig. la and b) showed marked diffuse pulmonary fibrosis with a honeycomb pattern in the upper lobes. Radiographic changes of bronchiectasis such as bronchial cuffing were not appreciated on either view. The position of the hemidiaphragms in the lateral chest radiograph did not suggest gross overexpansion of the lungs as might be anticipated if this advanced degree of fibrotic change were secondary to cystic fibrosis. The mediastinal widening was thought to represent adenopathy but no hilar adenopathy was identified. There was marked enlargement of the right ventricle. The initial radiologic interpretation was cor pulmonale and advanced fibrotic lung disease consistent with but not characteristic of cystic fibrosis. The patient died of cot pulmonale clinically attributed to advanced cystic fibrosis. At autopsy the heart weighed 320 gm and showed marked right ventricular dilatation and hypertrophy. The upper lobes of both lungs were contracted. On section, interstitial fibrosis with honeycombing was present particularly in the upper lobes (Fig. 1 c). Only slight bronchiectasis was identified. Microscopically, extensive fibrosis distorted the pulmonary architecture in many areas, but chronic inflammation was mild. Many fibrotic, healed granulomas were seen inthe enlarged thoracic lymph nodes. Conchoid (Schaumann) bodies were present in many fibrotic alveolar septa, unassociated with granulomas. The diagnosis of sarcoidosis was therefore based on the histopathologic evidence of granulomatous disease in a typical anatomic distribution for sarcoidosis in the absence of either a demonstrable infectious etiology or evidence of beryllium in lung tissue. Discussion
I n 1955 M c G o v e r n a n d M e r r i t t [5] c o l l e c t e d 113 cases o f c h i l d h o o d s a r c o i d o s i s f r o m t h e w o r l d literature. W i t h t h e a d d i t i o n o f a r e c e n t series [2] t h e total o f r e c o r d e d cases is a p p r o x i m a t e l y 200. I n 75% o f c h i l d r e n w i t h s a r c o i d o s i s , t h e age o f
R. E. Moffat et al.: Sarcoidosis with Fatal Cor Pulmonale
181
Fig. 1. a and b Fibrotic changes in both lungs with honeycombing and loss of volume of upper lobes. Right heart fills much of retrosternal space. Widening of mediastinum, c Coronal section of lungs. Fibrosis most severe in contracted upper lobes. Subcarinal lymph nodes enlarged
182
R.E. Moffat et al.: Sarcoidosis with Fatal Cor Pulmonale
onset is between 9 and 15 years as in the present case. Childhood sarcoidosis is usually not progressive and both the development of cor pulmonale and fatal outcome are rare occurrences. Cor pulmonale was described in only one instance of the previously reported 200 cases [1]. Only 7 of the recorded cases occurring in childhood are known to have had a fatal outcome. Of the 28 children followed by Kendig for a mean period of 9 years, 3 showed evidence of chronic respiratory disease [2]. Radiographic abnormalities of the chest are seen in over 90% of adults and children with sarcoidosis at the time of histological diagnosis. In children hilar adenopathy with varying degrees of mediastinal adenopathy is seen in 83 to 100% of cases. Pulmonary parenchymal infiltrates can at some time be documented in approximately half of all patients [3]. Progressive pulmonary fibrosis is sometimes accompanied by cystic changes with predominant upper lobe involvement as in our case. W h e n cardiac enlargement is present radiographicalty, it almost always occurs in patients with marked pulmonary parenchymal changes. Sarcoidosis should be suspected in the child or young adult with radiographic changes of diffuse chronic pulmonary disease in the absence of obvious bronchiectasis. Other diagnostic con-
siderations would include tuberculosis, histoplasmosis, histiocytosis X and idiopathic fibrosing interstitial pneunomitis. The recently described success of transbronchial lung biopsy in confirming the diagnosis of sarcoidosis would suggest the application of this technique in older children as well as in adults [4].
References 1. Hauser, H.: Pulmonary sarcoidosis. J. Okla. State Med. Assoc. 39, 395 (1946) 2. Kendig, E. L., Brummer, D. L.: The prognosis of sarcoidosis in children. Chest 70, 351 (1976) 3. Kirks, D. R., McCormick, V. D., Greenspan, R. H.: Pulmonary sarcoidosis: Roentgenologic analysis of 150 patients. Am. J. Roentgenol. Radium Ther. Nucl. Med. 117, 777 (1973) 4. Koerner, S. K., Sakowitz, A. J., Appelman, R. I., et al.: Transbronchial lung biopsy for the diagnosis of sarcoidosis. N. Engl. J. Med. 293, 268 (1975) 5. McGovern, J. P., Merritt, D. H.: Sarcoidosis in childhood. Adv. Pediatr. 8, 97 (1956) Date of final acceptance: January 4, 1978
R. E. Moffat, M. D. Department of Diagnostic Radiology University of Kansas Medical Center 39th and Rainbow Boulevard Kansas City, KS 66103 USA
Pediat. Radiol. 7, 180-182 (1978)
9 by Springer-Verlag1978
Childhood Sarcoidosis with Fatal Cot Pulmonale R. E. M o f f a t 1, R. E. S o b o n y a 2, a n d C. H. J. C h a n g 1 The Departments of 1Diagnostic Radiology and 2Pathology and Oncology, University of Kansas Medical Center, Kansas City, Kansas, USA
Abstract. A 14 y e a r - o l d w h i t e girl w h o d e v e l o p e d fatal c o r p u l m o n a l e f r o m s e v e r e p u l m o n a r y s a r c o i d o s i s h a d a p r e v i o u s clinical d i a g n o s i s o f cystic fibrosis. C h e s t r a d i o g r a p h s d e m o n s t r a t e d m a r k e d p u l m o n a r y fibrosis w i t h o u t t h e c h a n g e s o f s e v e r e b r o n c h i e c t a s i s t h a t w o u l d be a n t i c i p a t e d with cystic fibrosis. Key words: Sarcoidosis - C o r p u l m o n a l e - B r o n c h i ectasis - L u n g d i s e a s e - C y s t i c fibrosis
S a r c o i d o s i s w i t h fatal c o r p u l m o n a l e was f o u n d in a gift t h o u g h t o r i g i n a l l y to h a v e cystic fibrosis. R a d i o l o g i c a l l y , this p a t i e n t d e m o n s t r a t e d m i n i m a l b r o n c h i e c t a t i c c h a n g e relative to the s e v e r e p a r e n c h y m a l disease.
C a s e Report
A 14-year-old white girl was thought to have cystic fibrosis after evaluation at another hospital and was referred to the University of Kansas Cystic Fibrosis Clinic. Over the previous 11/2 years she had experienced insidious onset of shortness of breath, increasing cough and a 6.8 kg weight loss. She was the product of a twin pregnancy complicated by toxemia and weighed 3 pounds 4 ounces at birth. Although the first 3 months of life were spent in the hospital, she subsequently showed relatively normal growth and development. No respiratory or digestive symptoms could be recalled by the parents until the onset of the present illness. No history suggesting respiratory disease in the parents or 6 siblings was obtained. Initial physical examination revealed a frail-appearing girl with moderate clubbing of the fingers. The hemoglobin and hematocrit values were 16.2 gm per 100 ml and 46.2 %, respectively. Immunoglobulin assay was not remarkable. Sweat chloride determinations were consistently normal around 20 mEq/1. Trypsin inhibitory capacity was normal.
0301-0449/78/0007/0180/S01.00
Pulmonary function studies showed a very severe restrictive process with a forced vital capacity of only 0.5 liter. No significant flora were found in initial sputum cultures. Intermediate tuberculin and histoplasmin skin tests showed no reaction. Initial posterior-anterior and lateral chest radiographs (Fig. la and b) showed marked diffuse pulmonary fibrosis with a honeycomb pattern in the upper lobes. Radiographic changes of bronchiectasis such as bronchial cuffing were not appreciated on either view. The position of the hemidiaphragms in the lateral chest radiograph did not suggest gross overexpansion of the lungs as might be anticipated if this advanced degree of fibrotic change were secondary to cystic fibrosis. The mediastinal widening was thought to represent adenopathy but no hilar adenopathy was identified. There was marked enlargement of the right ventricle. The initial radiologic interpretation was cor pulmonale and advanced fibrotic lung disease consistent with but not characteristic of cystic fibrosis. The patient died of cot pulmonale clinically attributed to advanced cystic fibrosis. At autopsy the heart weighed 320 gm and showed marked right ventricular dilatation and hypertrophy. The upper lobes of both lungs were contracted. On section, interstitial fibrosis with honeycombing was present particularly in the upper lobes (Fig. 1 c). Only slight bronchiectasis was identified. Microscopically, extensive fibrosis distorted the pulmonary architecture in many areas, but chronic inflammation was mild. Many fibrotic, healed granulomas were seen inthe enlarged thoracic lymph nodes. Conchoid (Schaumann) bodies were present in many fibrotic alveolar septa, unassociated with granulomas. The diagnosis of sarcoidosis was therefore based on the histopathologic evidence of granulomatous disease in a typical anatomic distribution for sarcoidosis in the absence of either a demonstrable infectious etiology or evidence of beryllium in lung tissue. Discussion
I n 1955 M c G o v e r n a n d M e r r i t t [5] c o l l e c t e d 113 cases o f c h i l d h o o d s a r c o i d o s i s f r o m t h e w o r l d literature. W i t h t h e a d d i t i o n o f a r e c e n t series [2] t h e total o f r e c o r d e d cases is a p p r o x i m a t e l y 200. I n 75% o f c h i l d r e n w i t h s a r c o i d o s i s , t h e age o f
R. E. Moffat et al.: Sarcoidosis with Fatal Cor Pulmonale
181
Fig. 1. a and b Fibrotic changes in both lungs with honeycombing and loss of volume of upper lobes. Right heart fills much of retrosternal space. Widening of mediastinum, c Coronal section of lungs. Fibrosis most severe in contracted upper lobes. Subcarinal lymph nodes enlarged
182
R.E. Moffat et al.: Sarcoidosis with Fatal Cor Pulmonale
onset is between 9 and 15 years as in the present case. Childhood sarcoidosis is usually not progressive and both the development of cor pulmonale and fatal outcome are rare occurrences. Cor pulmonale was described in only one instance of the previously reported 200 cases [1]. Only 7 of the recorded cases occurring in childhood are known to have had a fatal outcome. Of the 28 children followed by Kendig for a mean period of 9 years, 3 showed evidence of chronic respiratory disease [2]. Radiographic abnormalities of the chest are seen in over 90% of adults and children with sarcoidosis at the time of histological diagnosis. In children hilar adenopathy with varying degrees of mediastinal adenopathy is seen in 83 to 100% of cases. Pulmonary parenchymal infiltrates can at some time be documented in approximately half of all patients [3]. Progressive pulmonary fibrosis is sometimes accompanied by cystic changes with predominant upper lobe involvement as in our case. W h e n cardiac enlargement is present radiographicalty, it almost always occurs in patients with marked pulmonary parenchymal changes. Sarcoidosis should be suspected in the child or young adult with radiographic changes of diffuse chronic pulmonary disease in the absence of obvious bronchiectasis. Other diagnostic con-
siderations would include tuberculosis, histoplasmosis, histiocytosis X and idiopathic fibrosing interstitial pneunomitis. The recently described success of transbronchial lung biopsy in confirming the diagnosis of sarcoidosis would suggest the application of this technique in older children as well as in adults [4].
References 1. Hauser, H.: Pulmonary sarcoidosis. J. Okla. State Med. Assoc. 39, 395 (1946) 2. Kendig, E. L., Brummer, D. L.: The prognosis of sarcoidosis in children. Chest 70, 351 (1976) 3. Kirks, D. R., McCormick, V. D., Greenspan, R. H.: Pulmonary sarcoidosis: Roentgenologic analysis of 150 patients. Am. J. Roentgenol. Radium Ther. Nucl. Med. 117, 777 (1973) 4. Koerner, S. K., Sakowitz, A. J., Appelman, R. I., et al.: Transbronchial lung biopsy for the diagnosis of sarcoidosis. N. Engl. J. Med. 293, 268 (1975) 5. McGovern, J. P., Merritt, D. H.: Sarcoidosis in childhood. Adv. Pediatr. 8, 97 (1956) Date of final acceptance: January 4, 1978
R. E. Moffat, M. D. Department of Diagnostic Radiology University of Kansas Medical Center 39th and Rainbow Boulevard Kansas City, KS 66103 USA
