Jeune thoracic dystrophy with right sided diaphragmatic hernia
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《美国医学杂志》
Department of Pediatrics, JJMMC, Davangere, Karnataka, India
Abstract
Jeune thoracic dystrophy is a rare autosomal recessive chondrodysplasia, first described by Jeune et al in 1955. Early death is usually the consequence of asphyxia with or without pneumonia. Here is reported a newborn with Jeune thoracic dystrophy and a right-sided diaphragmatic hernia.
Keywords: Asphyxiating thoracic dystrophy; Right-sided diaphragmatic hernia
A term male baby was born to a consanguineously married couple by cesarean section (indication: mento posterior presentation). Baby cried immediately after birth and had a 1min and 5min APGAR score of 5 and 6 respectively.
Since the child had persistent respiratory distress, which it developed few minutes after birth, the child was shifted to NICU. On examination there was an obvious thoracic deformity, a short and narrow thorax, with short limbs without polydactyly. On auscultation the right sided air entry was absent. The first and second heart sounds were heard without any murmur. There were no other striking clinical findings.
The child was started on supplemental oxygen via head box. A chest roentgenogram taken 3 hours after birth showed the following findings. Narrow thorax with short and horizontal ribs, highly placed clavicle and right-sided diaphragmatic hernia Figure1.
Inspite of our efforts the child expired 5 hours after birth. A post mortem infantogram showed a small pelvis with hypoplastic iliac wings. The clinical and radiological findings suggested a diagnosis of Asphyxiating Thoracic Dystrophy (ATD)[1],[2] Figure2.
Ultrasonogram abdomen could not be done. Renal and liver function tests were normal. Fundus examination did not reveal any retinal changes. A post-mortem examination was not done, as the parents did not give consent.
Discussion
Asphyxiating thoracic dystrophy is characterized by a narrow thorax and short limbs.[2] Characteristic radiological findings in infancy include short ribs with irregular costochondral junction, a highly placed "handle bar" clavicle, hypoplastic iliac wings, and horizontal acetabular roofs with spur like projections at lower margin of sciatic notch.[1],[2],[3] The predominant visceral involvement is pulmonary hypoplasia[1] and cystic changes in the kidney[4] have been described. In the liver changes such as periportal fibrosis and bile duct proliferation and occasionally cirrhosis have been reported.[5] Retinal degeneration resembling Leber's congenital amaurosis is a feature.[6]
Yang et al[7] suggested the existence of 2 types of ATD: type 1 was characterized by presence of radiological finding such as irregular metaphyseal ends and histopathologically irregular cartilage bone junctions. Type 2 showed smooth metaphyseal ends and histopathologically diffusely retarded and disorganized physes with smooth cartilage bone junction. The case above mentioned could not be classified into these types because it takes time for the metaphyseal changes to occur.
Therapy in ATD is mainly supportive. Those who survive usually have frequent pneumonia but there is progressive improvement in the relative growth of the thoracic cage. Chronic nephritis leading to renal failure is a serious consequence of this disorder. However, survival till the fourth decade has occurred [9]. Surgeries to increase the thoracic volume such as sternotomy and lateral thoracic expansion have been advocated with mixed success.[10] Morgan et al[11] performed a genome wide search in 2003 and mapped the probable loci of the ATD gene to 15q 13.
We could not find any published reports on ATD associated with right-sided diaphragmatic hernia. Probably an associated anomaly involving the liver with delayed closure of the right-sided pericardioperitoneal canal resulted in the right-sided diaphragmatic hernia.[8]
To conclude, whether the association between ATD and right-sided diaphragmatic hernia is coincidental or part of the syndrome is a question that can only be answered by more studies in the future.
References
1. Jones KL ed. Smith's Recognizable Pattern of Human Malformations. 5th edn. Philadelphia; WB Saunders Company 1996: 340.
2. Jeune M, Beraud C, Carron R. Dystrophie thoracique asphyxiante de caracte're familial. Arch Fr Pediatr 1955; 12: 886.
3. Cortina H, Beltran J, Olague R. The wide spectrum of the asphyxiating thoracic dystrophy. Pediatr Radiol 1955; 8: 93-99.
4. Herdman RC, Langer LO Jr. The thoracic asphyxiated dystrophy and renal disease. Am J Dis Child 1968; 116: 192-201.
5. Hudgins L, Rosetrgen S, Treem W, Hyams J. Early cirrhosis in survivors with Jeune thoracic dystrophy. Am J Hum Genet 1990; 47 (Suppl): A61.
6. Allen AW Jr., Moon JB, Hovland KR, Minckler DS. Ocular findings in thoracic-pelvic-phalangeal dystrophy. Arch Ophthal 1979; 97: 489-492.
7. Yang SS, Heidelberger KP, Brough AJ, Corbett DP, Bernstein J. Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum, a clinicopathologic study. Am J Med Genet 1987; 3 (Suppl): 191-207.
8. Kluth D, Losty PD, Schnitzer JJ, Lambercht W, Donahoe PK. Towards understanding the developmental anatomy of congenital diaphragmatic hernia. Clin Perinatol 1996; 23: 655-671.
9. Freidman JM, Kaplan HG, Hall JG. The Jeune syndrome in an adult. Am J Med 1975; 59: 857.
10. Barnes ND, Hull D, Milner AD, Waterson DJ. Chest reconstruction in thoracic dystrophy. Arch Dis Child 1971; 46: 833-837.
11. Morgan NV, Bachelli C, Gissen P et al. A locus for asphyxiating thoracic dystrophy (ATD), maps to ch.15q 13. J Med Genet 2003; 40: 431-435.(Kalappanavar NK, Bidhu P,)
Abstract
Jeune thoracic dystrophy is a rare autosomal recessive chondrodysplasia, first described by Jeune et al in 1955. Early death is usually the consequence of asphyxia with or without pneumonia. Here is reported a newborn with Jeune thoracic dystrophy and a right-sided diaphragmatic hernia.
Keywords: Asphyxiating thoracic dystrophy; Right-sided diaphragmatic hernia
A term male baby was born to a consanguineously married couple by cesarean section (indication: mento posterior presentation). Baby cried immediately after birth and had a 1min and 5min APGAR score of 5 and 6 respectively.
Since the child had persistent respiratory distress, which it developed few minutes after birth, the child was shifted to NICU. On examination there was an obvious thoracic deformity, a short and narrow thorax, with short limbs without polydactyly. On auscultation the right sided air entry was absent. The first and second heart sounds were heard without any murmur. There were no other striking clinical findings.
The child was started on supplemental oxygen via head box. A chest roentgenogram taken 3 hours after birth showed the following findings. Narrow thorax with short and horizontal ribs, highly placed clavicle and right-sided diaphragmatic hernia Figure1.
Inspite of our efforts the child expired 5 hours after birth. A post mortem infantogram showed a small pelvis with hypoplastic iliac wings. The clinical and radiological findings suggested a diagnosis of Asphyxiating Thoracic Dystrophy (ATD)[1],[2] Figure2.
Ultrasonogram abdomen could not be done. Renal and liver function tests were normal. Fundus examination did not reveal any retinal changes. A post-mortem examination was not done, as the parents did not give consent.
Discussion
Asphyxiating thoracic dystrophy is characterized by a narrow thorax and short limbs.[2] Characteristic radiological findings in infancy include short ribs with irregular costochondral junction, a highly placed "handle bar" clavicle, hypoplastic iliac wings, and horizontal acetabular roofs with spur like projections at lower margin of sciatic notch.[1],[2],[3] The predominant visceral involvement is pulmonary hypoplasia[1] and cystic changes in the kidney[4] have been described. In the liver changes such as periportal fibrosis and bile duct proliferation and occasionally cirrhosis have been reported.[5] Retinal degeneration resembling Leber's congenital amaurosis is a feature.[6]
Yang et al[7] suggested the existence of 2 types of ATD: type 1 was characterized by presence of radiological finding such as irregular metaphyseal ends and histopathologically irregular cartilage bone junctions. Type 2 showed smooth metaphyseal ends and histopathologically diffusely retarded and disorganized physes with smooth cartilage bone junction. The case above mentioned could not be classified into these types because it takes time for the metaphyseal changes to occur.
Therapy in ATD is mainly supportive. Those who survive usually have frequent pneumonia but there is progressive improvement in the relative growth of the thoracic cage. Chronic nephritis leading to renal failure is a serious consequence of this disorder. However, survival till the fourth decade has occurred [9]. Surgeries to increase the thoracic volume such as sternotomy and lateral thoracic expansion have been advocated with mixed success.[10] Morgan et al[11] performed a genome wide search in 2003 and mapped the probable loci of the ATD gene to 15q 13.
We could not find any published reports on ATD associated with right-sided diaphragmatic hernia. Probably an associated anomaly involving the liver with delayed closure of the right-sided pericardioperitoneal canal resulted in the right-sided diaphragmatic hernia.[8]
To conclude, whether the association between ATD and right-sided diaphragmatic hernia is coincidental or part of the syndrome is a question that can only be answered by more studies in the future.
References
1. Jones KL ed. Smith's Recognizable Pattern of Human Malformations. 5th edn. Philadelphia; WB Saunders Company 1996: 340.
2. Jeune M, Beraud C, Carron R. Dystrophie thoracique asphyxiante de caracte're familial. Arch Fr Pediatr 1955; 12: 886.
3. Cortina H, Beltran J, Olague R. The wide spectrum of the asphyxiating thoracic dystrophy. Pediatr Radiol 1955; 8: 93-99.
4. Herdman RC, Langer LO Jr. The thoracic asphyxiated dystrophy and renal disease. Am J Dis Child 1968; 116: 192-201.
5. Hudgins L, Rosetrgen S, Treem W, Hyams J. Early cirrhosis in survivors with Jeune thoracic dystrophy. Am J Hum Genet 1990; 47 (Suppl): A61.
6. Allen AW Jr., Moon JB, Hovland KR, Minckler DS. Ocular findings in thoracic-pelvic-phalangeal dystrophy. Arch Ophthal 1979; 97: 489-492.
7. Yang SS, Heidelberger KP, Brough AJ, Corbett DP, Bernstein J. Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum, a clinicopathologic study. Am J Med Genet 1987; 3 (Suppl): 191-207.
8. Kluth D, Losty PD, Schnitzer JJ, Lambercht W, Donahoe PK. Towards understanding the developmental anatomy of congenital diaphragmatic hernia. Clin Perinatol 1996; 23: 655-671.
9. Freidman JM, Kaplan HG, Hall JG. The Jeune syndrome in an adult. Am J Med 1975; 59: 857.
10. Barnes ND, Hull D, Milner AD, Waterson DJ. Chest reconstruction in thoracic dystrophy. Arch Dis Child 1971; 46: 833-837.
11. Morgan NV, Bachelli C, Gissen P et al. A locus for asphyxiating thoracic dystrophy (ATD), maps to ch.15q 13. J Med Genet 2003; 40: 431-435.(Kalappanavar NK, Bidhu P,)