Accepted Manuscript
Association of Congenital Diaphragmatic Hernia and Hiatal Hernia with Tetrasomy 18p
Jamir Arlikar , MD Victor McKay , MD Paul Danielson , MD
PII: S2213-5766(14)00068-2 DOI: 10.1016/j.epsc.2014.05.006 Reference: EPSC 221
To appear in: Journal of Pediatric Surgery Case Reports
Received Date: 25 March 2014 Revised Date: 7 May 2014 Accepted Date: 17 May 2014
Please cite this article as: Arlikar J, McKay V, Danielson P, Association of Congenital Diaphragmatic Hernia and Hiatal Hernia with Tetrasomy 18p, Journal of Pediatric Surgery Case Reports (2014), doi: 10.1016/j.epsc.2014.05.006.
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ASSOCIATION OF CONGENITAL DIAPHRAGMATIC HERNIA AND HIATAL HERNIA WITH TETRASOMY 18P
Running title: “CDH and Hiatal Hernia with Tetrasomy 18p”
Jamir Arlikar, MD*, Victor McKay, MD**, and Paul Danielson, MD*
Division of Pediatric Surgery* and Division of Neonatology**
All Children’s Hospital Johns Hopkins Medicine
St. Petersburg, FL
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Corresponding Author:
Paul Danielson, MD All Children’s Hospital Johns Hopkins Medicine 601 Fifth Street South, Dept 70-6600 St. Petersburg, FL 33701 ACCEPTED Tel: 727-767-4109 Fax: 727-767-4346 Email: [email protected]
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Abstract:
We report a case of a newborn with tetrasomy 18p who presents with both a congenital diaphragmatic hernia and a giant hiatal hernia. While these two hernias have been rarely reported together in the newborn period, this represents the first association with the chromosomal abnormality of tetrasomy 18 p.
Keywords: congenital diaphragmatic hernia, hiatal hernia, tetrasomy 18p
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Tetrasomy 18p is the most common isochromosome, yet it remains a rare congenital disorder.
It has been associated with growth retardation, gastroesophageal reflux and microcephaly, but there have been no previous report of simultaneous congenital diaphragmatic hernia and hiatal hernia in these patients. We describe the diagnosis and surgical management of such a case.
Case Report:
A 2700 gram male infant was born at an estimated gestational age of 36 weeks to a 50 year old
G6P2032 white female. The mother suffered from gestational diabetes and was blood type A negative. The fetus was diagnosed with a left congenital diaphragmatic hernia (CDH) on a 28 week gestation ultrasound. A second trimester fetal MRI (magnetic resonance imaging) confirmed the diagnosis of CDH and suggested organoaxial rotation of the stomach (Figure 1). A fetal echocardiogram revealed a small mid-muscularMANUSCRIPT ventricular septal defect, mild cardiomegaly, and trivial tricuspid regurgitation. MaterniT21 test for trisomy 21 which was done antenatally showed low risk.
The infant was delivered by Caesarian section secondary to spontaneous premature rupture of membranes and a previous maternal Caesarian section. His Apgar scores were 4 and 9 at 1 and
5 minutes, respectively. The patient was intubated in the delivery room for respiratory support.
Upon arrival in the NICU, chest radiographs initially suggested a lucency in the more central portion of chest ACCEPTEDraising the question of a Morgagni hernia (Figure 2), but subsequent lateral views were consistent with a posterior-lateral diaphragmatic defect (Figure 3). He had no obvious external anomalies apart from foot deformities, a high arch palate, and tight clenching of his fingers. These findings raised concern for a congenital syndrome and prompted a genetic 3
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work-up that ultimately diagnosed tetrasomy 18p (this result became available day of life eight).
On the first day of life, an echocardiogram revealed significant pulmonary hypertension. The patient required oscillatory ventilation support and inhaled nitric oxide therapy as well as treatment for hypotension with vasopressors and hydrocortisone. By day of life seven he had transitioned to conventional ventilation and underwent operation. A left thoracoscopic approach was undertaken using a 3mm, 30 degree telescope; one 3mm working port; and CO2 insufflation up to 4 mm Hg. Findings included a hypoplastic left lung. There was a central diaphragmatic defect that did not reflect a typical Bochdalek or Morgagni hernia nor an eventration. There was a normal circumferential rim of diaphragmatic muscle and central tendon; however, there was a defect in the center of the diaphragm. This hole represented approximately 30% of the diaphragm’s surface and MANUSCRIPT was associated with a sac. No organs were noted in the thorax, and it was presumed that the insufflation had reduced the sac and any other solid organs or hollow viscus that may have been contained in the hernia. It was only discovered later that the thoracic stomach noted on preoperative imaging was actually part of a hiatal hernia and not contained within the diaphragmatic hernia sac. There was no note of a hiatal hernia during thoracoscopy and this was thought to be due to the intrathoracic pressure reducing the hiatal hernia contents.
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The diaphragmatic defect was closed by imbricating the sac and edge of central tendon using a hollow needle technique. The 18 gauge spinal needle was introduced transthoracically and 4
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the working instrument reefed the tissue onto the needle. A 2-0 polyester suture was then threaded through the spinal needle before it was withdrawn. Both ends of the suture were then retrieved from the pleural cavity via the working port and tied using an extracorporeal/knot pusher technique.
The patient tolerated the procedure well; however, on the second post-operative day a central, retrosternal lucency reappeared on chest radiograph (Figure 4). The patient was brought back to the operating room for presumed recurrence. Diagnostic laparoscopy revealed a giant hiatal hernia containing stomach and transverse colon (Figure 5). It was assumed that the hiatal hernia had gone unnoticed during the previous thoracoscopy due to the insufflation reducing the stomach back into the abdominal cavity from theMANUSCRIPT mediatinum. The previous left diaphragmatic defect repair was intact.
The case was converted to an open procedure through an upper midline incision. The hiatal hernia was repaired by reapproximating the crura anteriorly using 2-0 polyester sutures and bolstering this with an anterior fundoplication. Postoperative recovery was uneventful with extubation on the third day. The patient tolerated enteral tubes feeds and demonstrated adequate weightACCEPTED gain; however, he was unable to feed orally. For that reason, a percutaneous endoscopic gastrostomy tube was placed to allow adequate nutrition as an outpatient. The poor oral feeding was attributed to his underlying genetic disorder.
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Discussion:
Tetrasomy of 18p is a rare disorder. It has a prevalence of 1 in 80,000 live births and affects both genders equally.1 It is the most common isochromosome reported.2 Diagnosis can be established antenatally or postnatally. In our case, antenatal genetic screening was normal, and tetrasomy was detected on postnatal chromosomal analysis. High maternal and paternal age can be associated1 with Tetrasome 18p, and both parents are over age 50 in our case.
Clinical characteristics of tetrasomy 18p have been well described and include growth retardation, high arched palate, microcephaly, abnormalities of muscle tone, neonatal feeding difficulties, strabismus, hearing difficulties, and brain MANUSCRIPT MRI variants.3 Our patient has high arched palate, foot deformity, tone abnormalities, and neonatal feeding difficulties.
Gastroesophageal reflux is also another clinical manifestation,3 but there have been no reports of an association with both a hiatal hernia and a congenital diaphragmatic hernia in a patient with tetrasomy 18p.
There have beenACCEPTED cases of simultaneous CDH and hiatal hernia in patients without chromosomal abnormalities. Pathological GER and the presence of hiatal hernia in patients who have undergone CDH repair are both known long term complications.4 Koziarkiewicz et al. demonstrated pathological gastroesohageal reflux disease (GERD) and hiatal hernia in 5 of 50 6
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long term follow up cases of CDH. Of these five patients, the diagnosis was made from 3 weeks to 24 months of age. In 1994, Nagaya et al. followed postoperative CDH patients and found a hiatal hernia in 6 of the 10 patients who subsequently developed GER.8
Trisomy 13, 18, and 21 and 45,X are the most common aneuploidies described in association with CDH.5 Structural abnormalities—including deletions, duplications, inversions, and translocations—of nearly all chromosomes have also been described in association with CDH.6, 7
The largest series of tetrasomy 18p patients reported 15 of 42 with GERD; however, that series makes no mention of hiatal hernia.3 Since a hiatal hernia predisposes to GERD, it may be that this anatomic finding is under diagnosed or under reported. In our case, fetal MRI had demonstrated the presence of the stomach in the thorax.MANUSCRIPT Organoaxial volvulus was raised as a concern since it was thought the stomach had herniated through a classic Bochdalek defect. In retrospect, the presence of the hiatal hernia with the stomach in the posterior mediastinum explains the MRI findings.
Conclusion:
It is also important to note that a hiatal hernia is not easily appreciated by thoracoscopy, particularly if a small amount of insufflation is employed. Therefore, in patients with 18p chromosomal abnormalities,ACCEPTED suspected diaphragmatic defects may be better approached by laparoscopy or laparotomy in order to visualize any associated defects and thus allow for simultaneous repair.
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Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-
Chief of this journal on request.
The Authors have nothing to disclose.
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References
1. Plaiasu V, Ochiana D, Motei G, Georgescu A. A rare chromosomal disorder - isochromosome 18p syndrome. Maedica (Buchar) 2011; 6:132-6.
2. Kotzot D, Bundscherer G, Bernasconi F, Brecevic L, Lurie IW, Basaran S, et al. Isochromosome 18p results from maternal meiosis II nondisjunction. Eur J Hum Genet 1996; 4:168–74.
3. Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, et al. Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet 2010;152A:2164-72.
4. Koziarkiewicz M, Taczalska A, Piaseczna-Piotrowska A. Long-Term follow-up of children with congenital diaphragmatic hernia-observations from a single institution. Eur J Pediatr Surg 2013 (epub ahead of print).
5. Tibboel D, Gaag AV. Etiologic and genetic factors in congenital diaphragmatic hernia. Clin Perinatol 1996 23:689–99.
6. Lurie IW. Where to look for the genes related to diaphragmatic hernia? Genet Couns 2003; 14:75–93. MANUSCRIPT 7. Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. Am J Med Genet 1998;79:215-25.
8. Nagaya M, Akatsuka H, Kato J. Gastroesophageal reflux occurring after repair of congenital diaphragmatic hernia. J Pediatr Surg 1994;29:1447-51.
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Figure Legends:
Figure 1. Fetal MRI demonstrating suspected organo-axial rotation of stomach within the chest.
Figure 2. Chest radiograph (AP) after birth showing lucency in the central and left chest.
Figure 3. Chest radiograph (lateral) after birth suggesting posterior defect.
Figure 4. Chest radiograph (AP) two days after diaphragmatic hernia repair showing return of central chest lucency.
Figure 5. Intraoperative laparoscopic view of wide defect in crura of esophageal hiatus. Stomach is visible in mediastinum.
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Highlights
Running title: CDH and Hiatal Hernia with Tetrasomy 18p
- The association of congenital diaphragmatic hernia and hiatal hernia together has not been previously reported in a case of tetrasomy 18p.
- An abdominal surgical approach may be favored for diagnosing and repairing both of these defects simultaneously.
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