Eventration of the Diaphragm and Associations - medIND

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Clinical Brief

Eventration of the Diaphragm and Associations M.L. Kulkarni, B. Sneharoopa, H.N. Vani, Sarfaraz Nawaz, B. Kannan and Preethi M. Kulkarni Department of Pediatrics, JJM Medical College, Davangere, Karnataka, India.

ABSTRACT Eventration of the diaphragm, most often an isolated entity, and detected incidentally, has been known to be associated with several genetic syndromes. Authors report their experience of seeing diaphragmatic eventration in association with Poland syndrome and wandering spleen syndrome and briefly discuss the literature. [Indian J Pediatr 2007; 74 (2) : 202-205] E-mail : [email protected]

Key words : Eventration; Poland syndrome; Wandering spleen syndrome.

Eventration of the diaphragm is an abnormal elevation of part or whole of the hemidiaphragm. It occurs as an isolated entity. This entity, most often, is incidentally detected on chest radiographs and frequently asymptomatic. Congenital eventration of the diaphragm is due to maldevelopment of the muscular portion of the hemidiaphragm. It can be associated with other congenital anomalies and syndromes and possibly there could be an explanation for such an association. In this communication is reported the association of eventration of the diaphragm in two interesting situations viz., Poland syndrome and wandering spleen syndrome and briefly discuss the literature on this kind of association. CASE REPORTS

Fig. 1a. Boy with Poland anomaly, note absence of chest wall muscles, absence of nipple, areola and hypoplastic upper limb on left side

Case 1. A 10-yr-old boy was brought for a minor illness. He had absent anterior chest wall muscles on left side leading to indrawn left hemithorax with absent areola and nipple and hypoplastic left upper limb.(Fig.1a) A diagnosis of Poland syndrome was made. His chest radiograph showed elevation of the diaphragm on left side with dextroposition of the heart, crowding of the ribs on left and rotation of the vertebral bodies with convexity to the right (Fig.1b). Significant elevation of the left hemidiaphragm out of proportion to the chest wall deformity made us suspect eventration. The raised left

Correspondence and Reprint requests : Dr. M.L. Kulkarni, Prof. and H.O.D. Pediatrics, JJM Medical College, 2373, M.C.C. ‘A’ Block, Davangere- 577 004, Karnataka State-India.

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Fig. 1b. His chest X- ray - note crowding of ribs, scoliosis and eventration.

Indian Journal of Pediatrics, Volume 74—February, 2007

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Eventration of the Diaphragm and Associations hemidiaphragm was found to be thinned out but intact with reduced movement when boy was evaluated echocardiographically for cardiac defect, thus the diagnosis of eventration was confirmed. The boy also had mild mitral valve prolapse. Case 2 An eleven year old girl presented with mumps and acute gastritis. Her chest radiograph incidentally revealed elevation of posterior part of the left hemidiaphragm, and there was no shift of the lower mediastinum (Fig.2a).

Fig. 2a. Chest X- ray - partial eventration without shift of the lower mediastinum.

Fig. 2b. CT (lung window) showing left cupola of the diaphragm at a higher level than the right.


Fluoroscopy detected decreased movement of the left hemidiaphragm and ultrasound examination confirmed the intactness of the diaphragm with enlarged spleen adjacent to it. CT confirmed the diagnosis of partial eventration of the posterior left hemidiaphragm. Spleen was abnormal in shape and placed high, occupying the elevated portion of the diaphragm (Wandering spleen, Fig’s 2b,2c). Coronal reconstruction images of CT also showed the intact but elevated diaphragm. (Fig 2d) She improved with symptomatic treatment. She was followed up 3 months later with a repeat chest X-ray. The

Fig. 2c. CT with oral contrast showing big, abnormally shaped spleen.

Fig. 2d. Note the intact hemidiaphragm in coronal reconstruction of CT

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M.L. Kulkarni et al above mentioned findings had persisted. DISCUSSION Eventration of the diaphragm consists of thinned diaphragmatic muscle producing elevation of the entire or part of the hemidiaphragm. 1 Eventration is due to anatomical or functional deficiency of part of the diaphragm allowing the abdominal contents to herniate in to the chest. It is more commonly left sided with characteristically marked mediastinal displacement to the right, a feature rarely seen with paralysis of the diaphragm2. Muscle is thin and weak with movement reduced, paradoxical or absent on fluoroscopy. 2 Ultrasound may present valuable information about integrity of the diaphragm with the content of eventration and other diaphragmatic pathologies.3 Ultrasound is an important imaging modality for the diagnosis of eventration. The other imaging modalities such as fluoroscopy, CT & MR may be performed as adjuant techniques in cases where the diagnosis still remains in doubt; but they are often unnecessary after ultrasound.3 Unilateral elevation of the diaphragm can also be due to paralysis, pulmonary causes, pleural causes, bony deformities or subdiaphragmatic pathology. Differentiating these conditions need good correlation of clinical evaluation with radiological findings. Differential diagnosis between eventration, paralysis and traumatic diaphragmatic hernia can not be made out on the basis of paradoxical or absent movement, despite often-repeated statements to the contrary.4 Upper GI contrast studies and diagnostic pneumoperitoneum are simple & reliable methods of differentiating them.4 Congenital eventration is due to failure of muscularisation of the diaphragm, wherein, a part of the muscle is replaced by a layer of connective tissue and few scattered muscle fibers. The true incidence of eventration of the diaphragm is much higher than it is detected, the incidence in adults is about 1 in 10000. 5 It can occur in association with congenital syndromes like Kabuki make up syndrome, Beckwith-Wiedemann syndrome,6 Poland syndrome, Jarcho Levin syndrome, infections like fetal rubella, cytomegalovirus virus infection, trisomies, chromosomal abnormalities, and other congenital anomalies like pulmonary hypoplasia, congenital heart disease, tracheomalacia, cerebral agenesis, renal ectopia, malrotation, deformities of pinna, Meckel’s diverticulum and Werdnig Hoffman disease. 5(neurological cause of congenital eventration). Poland syndrome is an autosomal dominant condition with unilateral hypoplasia of the pectoralis major and pectoralis minor with hypoplastic ribs, absence of nipple, areola and breast and hemivertibrae. It can be associated with hypoplasia of other muscles viz., latissimus dorsi, serratus anterior, infraspinatus, supraspinatus and deltoid and also limb anomalies like hypoplasia with syndactyly, 204

brachydactyly and oligodactyly. 6 Occurance of these defects are attributed to vascular malformations like subclavian artery disruption.6, 7, 8. Though defects in several muscles have been described on the side of anomaly, diaphragmatic defects have not been described earlier. In the present case of Poland syndrome crowding of ribs and mild scoliosis noted on chest X-ray are due to chest wall deformity which is a part of the syndrome. Significant elevation of the left hemidiaphragm out of proportion to the chest wall deformity made us suspect eventration. The raised left hemidiaphragm was found to be thinned out but intact with reduced movement when boy was evaluated echocardiographically for cardiac defect, thus the diagnosis of eventration was confirmed. Eventration of diaphragm noted in this case shows that the Poland anomaly is not limited to the chest wall muscles only, and we are tempted to suggest that it is a part of the syndrome. Probably the embryological basis also could support this hypothesis. (Part of the diaphragm is derived from cervical somites and its superior surface is supplied by pericardiophrenic and musculophrenic branches of the internal thoracic artery, which in turn is branch of first part of subclavian artery). 9 This may be a new finding in Poland syndrome and one needs to look into this in detail. Reported cases of Poland syndrome need to be looked in for varying degrees of eventration of the diaphragm. One may find it more often if one is aware of the probable association. Second case of wandering spleen syndrome had eventration of the diaphragm which was confirmed by ultrasonography. Left sided diaphragmatic eventration can be associated with abnormally positioned spleen and can be a cause of acute abdomen in children, as in the case report of 11 year old girl. Wandering spleen in association with gastric volvulus has been reported only 4 times earlier in the literature. 10 Fluoroscopy with contrast medium can be helpful in the diagnosis of gastric volvulus which may need derotation and gastropexy. Diaphragmatic eventration is known to occur in several other syndromes namely Kabuki make up syndrome (mild to moderate mental retardation, postnatal growth deficiency, musculoskeletal abnormalities, dermatoglyphic abnormalities and characteristic facial dysmorphism), Fryns syndrome (Diaphragmatic abnormalities, coarse facies and distal digital hypoplasia), Jarcho-Levin syndrome (Spondylothoracic dysplasia), Beckwith-Wiedemann syndrome (exomphalos, macroglossia, gigantism syndrome).6 The authors hope that the present communication alerts the physicians about the association of eventration of the diaphragm with other malformation syndromes and anomalies, the knowledge of which may be vital in avoiding certain serious, though rare, complications like gastric volvulus and gastric adenocarcinoma.


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Eventration of the Diaphragm and Associations REFERENCES 1. Richard EB, Robert MK, Hal BJ, ed. Nelson Textbook of Pediatrics. 17 th edn. Philadelphia; WB Saunders, 2004; 1355. 2. David Sutton, ed. Text Book of Radiology and Imaging, 7 th edition, Chrchill Livingstone. London 2003; 51-52. 3. Eren S, Ceviz N, Alper F. Congenital diaphragmatic eventration as a cause of anterior mediastinal mass in the children: imaging modalities and literature review. Eur J Radiol 2004 Jul; 51(1) : 85-90. 4. Benjamin Felson ed. Chest Roentgenology, 1st edn. Philadelphia; WB Saunders, 2004; 436. 5. Irene MI, Booker PD, Congenital diaphragmatic hernia and eventration of the diaphragm. In Lister J, Irene MI, eds. Neonatal surgery, 3 rd edition. London; Butterworth, 1990; 214.


6. Jones KL,ed. Smith’s recognizable patterns of human malformation, 5th edition, Philadelphia; WB Saunders, 1997; 116-302. 7. Bouwes Bavinck JN, Weaver DD. Subclavian artery supply disruption sequence; Hypothesis of a vascular etiology for Poland, Klippel-Feil, and Mobius anomalies. Am J Med Genet 1986; 23 : 903-918. 8. Hubert C, Soltan MD, Lewis B, Holmes MD. Familial occurance of malformations posiibly attributable to vascular abnormalities. J Pediat 1986; 108 : 112-114. 9. Robert DT, J David Godwin, Charles EP. The diaphragm. Radiol Clin North Am 1984; 22(3) : 615-631. 10. Qazi A, Awadalla S. Wandering spleen: A rare cause of mesenteroaxial gastric volvulus. Pediatr Surg Int 2004; 20 (11 12) : 878-880.

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