Acute para-oesophageal hernia in Ehlers-Danlos syndrome

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1 CASO CLINICO/ CASE REPORT Acute para-oesophageal hernia in Ehlers-Danlos syndrome AUGUSTO IGNOTO,MARCO AMBROGIO,NUNZIO DISTEFANO,CORRADO PRESTI a,francesco PUGLISI, ANTONIO VACCARELLA a,rosario NUCIFORA Thoracic Surgery Unit a Anaesthesia Service Ospedale Civile Maria Paternò Arezzo - Ragusa (Italy) Correspondence to: Dr. Rosario Nucifora - Thoracic Surgery Unit - Ospedale Civile Maria Paternò Arezzo Ragusa (Italy) Riassunto L ernia paraesofagea è una nota complicanza della sindrome di Ehlers Danlos (EDS). La forma cronica è stata più volte descritta, non altrettanto frequentemente l insorgenza acuta. Viene riportato il caso di un erniazione acuta, gravemente sintomatica, di visceri addominali attraverso il forame esofageo in una giovane donna affetta da EDS. Un accurata conduzione anestesiologica e gestione chirurgica hanno permesso una felice soluzione del caso. Parole chiave: ernia paresofagea, sindrome di Ehlers-Danlos Summary Acute para-oesophageal hernia in Ehlers-Danlos syndrome. A. Ignoto, M. Ambrogio, N. Distefano, C. Presti, F. Puglisi, A. Vaccarella, R. Nucifora Para-oesophageal herniation is a recognized complication of the Ehlers-Danlos syndrome. While chronic herniation is well described, acute symptomatic herniation is far less common. We describe a case of acute, life-threatening paraoesophageal herniation of the abdominal viscera in a young woman with Ehlers- Danlos syndrome. Careful anaesthetic assessment and surgical management resulted in a successful clinical outcome. Key words: hiatus hernia, Ehlers-Danlos syndrome Chir Ital 2006; 58, 6: Introduction Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders characterised by articular hypermobility, skin extensibility and tissue fragility. Six major,and at least 5 minor types of EDS have been described on the basis of clinical signs and symptoms.eds affects both males and females of all ethnic and racial backgrounds and has a prevalent incidence of 1:5 000 to 1: The major EDS types demonstrate either autosomal dominant or autosomal recessive inheritance, whereas many of the minor EDS types are thought to be X-linked disorders. Arterial, intestinal and uterine ruptures constitute the majority of acute, life-threatening complications in patients with EDS 1. Acute para-oesophageal herniation, however,is a relatively rare presentation. 797

2 _ignoto :17 Pagina 798 CASO CLINICO/CASE REPORT Chirurgia Italiana vol. 58 n. 6 pp Fig. 1. Patient s skin hyperextensibility and joint hypermobility. Case report A 38-year-old woman presented to the emergency department with acute left-sided abdominal pain extending from the hypochondrium to the pubis.she was known to have EDS on the basis of joint hypermobility and dislocation, cutaneous hyperextensibility and a bruising tendency (Fig.1). Her past medical history included episodic nephrolithiasis.five years earlier she had delivered a live full-term infant by an uncomplicated vaginal delivery.initial investigations revealed mild renal impairment (serum creatinine 1.99 mg dl-1; serum urea 81 mg dl-1). C reactive protein reached 300 and white cell count was 29.9 x 109 dl1. Ultrasound examination of the abdomen revealed left hydronephrosis and ureteric microlithiasis. On this basis, a provisional diagnosis of acute ureteric colic was made. While in the emergency depart- Fig. 2. Contrasted stomach translated to left pleural cavity. 798 ment the patient had an episode of violent vomiting accompanied by a lacerating pain in the left chest, dyspnoea, tachycardia and hypoxia (peripheral arterial oxygen saturation 91% despite supplemental oxygen). A chest X-ray (Fig. 2) and subsequent computed tomography revealed the presence of the entire stomach in the left pleural cavity with pulmonary collapse and mediastinal displacement, consistent with acute para-oesophageal herniation. The patient was transferred to the intensive care unit for stabilisation and prepared for emergency corrective surgery. Preoperative drugs included fentanyl 0.10 mg; droperidol 2.5mg; lidocaine 2%,60 mg before endotracheo-bronchial tube placement; fentanyl 0.10 mg after endobronchial tube. Extreme care was taken during peripheral venous cannulation and nasogastric tube placement to prevent tissue disruption and bleeding. Invasive blood pressure monitoring was not instituted as the risk of peripheral arterial cannulation was thought to be too great. An automatic non-invasive blood pressure cuff was considered adequate, although it is

3 Acute para-oesophageal hernia in Ehlers-Danlos syndrome known that blood pressure should be monitored in these patients and sudden increases must be avoided. Anaesthesia was induced with thiopental 7 mg/kg. Right lung crackles,topic bronchospasm and referred aspecific allergies suggested the use of pancuronium to prevent histamine production from succinylcholine. A 37G right double-lumen endobronchial tube was introduced under direct laryngoscopy. Simultaneous cricoid pressure was used to reduce both cervical hyperextension and the risk of temporomandibular joint dislocation. Fiberoptic confirmation of tube placement was then obtained. The lungs were ventilated with air and oxygen (O 2 40%).A degree of hypercapnia (et CO 2 45) was permitted in order to maintain peak airway pressure below 35 cm H 2 0. Anaesthesia was maintained with Sevorane 1-2%. The patient was laid on her right side. Two padded arms hold the anterior chest and sacrum and padded cushions were placed below pressure areas. Antibiotic prophylaxis was performed with imipenem 500 mg x 4 till postoperative day IV. At the end of surgery the left lung was expanded with care to prevent haemodynamic imbalances and the patient extubated on the table. A left thoracotomy was performed on the 6th intercostal space. The latissimus dorsi and intercostal muscles appeared weak and fragile. The left pleural cavity was found to contain the stomach, omentum and loops of the small and large intestines. The oesophageal hiatus, through which Fig. 3.The dilated oesophageal hiatus. EDS is considered a group of rare inherited connective tissue disorders characterised mainly by abnormal collagen synthesis. It has been established that the frequency is about 1 in born.if this is so,the syndrome cannot be considered rare, but its recognition,related to the different genetic penetration, can be diffithe abdominal viscera had herniated, was found to be significantly enlarged (7 cm in diameter) (Fig. 3). There were no signs of overt visceral ischemia and the diaphragmatic oesophagus was in its usual anatomical position. The stomach, omentum and intestines were returned to the peritoneal cavity and the dilated hiatus reduced in diameter by the placement of interrupted pledget-reinforced stitches. The integrity of the left phrenic nerve was confirmed by the observation of normal diaphragmatic contractions following direct application of a 10 mv stimulus using an epicardial pacing system.a sample of diaphragmatic muscle was taken for histological examination. Following completion of the surgical repair, the left lung was reinflated and two-lung ventilation recommenced. Following the placement of two intercostal drainage tubes, the thoracotomy was closed in standard fashion. Postoperative analgesia was obtained with continuous infusion of morphine (10 mg in 110 ml,10 ml/h). No complications secondary to surgery or anaesthesia occurred. Histological examination excluded diaphragmatic muscle degeneration. The patient was discharged home on postoperative day VI. Three years after surgery the patient is still well and her chest radiographs appear normal (Fig.4). Discussion 799

4 _ignoto :17 Pagina 800 CASO CLINICO/CASE REPORT Fig. 4. Chest X-ray three years after surgery. cult.many cases are very mild,others are misunderstood because of the extensive heterogeneity that accounts for the existence of at least six major entities differentiated by their clinical, biochemical and genetic features1. Prominent skin extensibility and elasticity and complications of joint hypermobility, which are the most diagnostically useful features, are found in the classic type2.the skin appears thin, dry, hyperpigmented, and wrinkled, with scanty or absent subcutaneous tissue, scars over pressure points (knees, elbows),and calcified haematomas. Tissue extensibility and fragility are responsible for hiatal hernia, anal prolapse, and cervical insufficiency. Joint hypermobility with impaired musculoskeletal function is the dominant clinical manifestation of the hypermobility type. Skin involvement is present but variable in severity3. The vascular type is considered a 800 life-threatening form, as the collagen type III structural defect involves vessel layers and the intestinal musculature.spontaneous arterial rupture, acute aortic dissection with sudden death, aneurysms, arterial dissections, heart valve insufficiencies, intestinal rupture, and colon perforations are to be expected 4. Pregnancy may be complicated by uterine rupture and arterial bleeding. Joint hypermobility is limited while large eyes,thin nose, lobeless ears, short stature, and thin scalp hair are other characteristics. Other manifestations include recurrent haemoptysis,lung cavitary formations,bronchiectasis,spontaneous pneumothorax and haemopneumothorax, and paraesophageal hernias5. Complications and mortality during and after surgery due to vascular or gastrointestinal complications suggest non-operative treatments and avoiding invasive imag- Chirurgia Italiana vol. 58 n. 6 pp ing techniques when possible 6. Life expectancy of this type is usually shortened. The kyphoscoliosis type has been related to lysylhydroxylase,a collagen-modifying enzyme, a deficiency of which is responsible for generalised joint laxity and muscle hypotonia. A deficiency of type A and type B chains in collagen type I and of procollagen terminal peptidase are responsible for the type known as arthrochalasia: congenital hip dislocation, severe generalised joint hypermobility. The dermatosparaxis type is characterised by facial doughy skin and skin fold redundancy. Our case was known to be affected by EDS on a clinical basis due to skin and orthopaedic manifestations. She was also affected by left renal and ureteric microlithiasis and the renal colic that occurred was very likely the cause of her initial abdominal pain and vomiting. Repeated, powerful diaphragmatic contractions increased the intrabdominal pressure which stretched the weak oesophageal-diaphragmatic ligament allowing the abdominal viscera to herniate into the left pleural space. It was not possible to establish on a clinical basis to which type the case might belong. Skin biopsy and diaphragm muscle electron biopsy provided no additional indications. The type and severity of the thoracic syndrome left no other option than surgical repair which was conducted with attention to the possible complications. In an emergency, according to the Emergency Physicians Reference7, all patients with EDS undergoing surgery must be considered with maximum genetic penetration and

5 Acute para-oesophageal hernia in Ehlers-Danlos syndrome with a high risk of complications and mortality. On the basis of this rule we modulated our surgical and anaesthesiological management. Radial cannulation for on-line pressure and gas analysis monitoring was avoided. Neuroleptanalgesia (fentanyl and droperidol) ensured reliable and stable systemic pressure and heart rate throughout the surgery. Regional anaesthesia was not considered owing to its invasive manoeuvres in the peridural space. The lower oesophageal sphincter was in its normal place, and diaphragm contractions were powerful,so it was enough to replace the viscera in the abdomen and reconstruct the dilated hiatus around the oesophagus. After three years the patient is doing well and enjoying a normal life as a wife and mother. Acknowledgement The authors wish to thank Dr. Joe Arrowsmith, consultant cardiothoracic anaesthetist, Papworth Hospital (UK), for his help in reviewing this paper. References 1. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers- Danlos syndromes: revised nosology. Villefranche, Ehlers-Danlos National Foundation (USA) and Ehlers- Danlos Support group (UK). Am J Med Genet 1988; 77: Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, DePaepe A. Classical Ehlers-Danlos syndrome caused by mutation in type I collagen. Am J Hum Genet 2000; 66: Stanitski DF, Nadjarian R, Stanitski CL, Bawle E, Tsipouras P. Orthopaedic manifestations of Ehlers-Danlos syndrome. Clin Orthop 2000; 376: Naclerio S. Bassetta P, Sorgente F, Orlando C, Polito D, Mattei A, Fava A,Vitalone V. The Ehlers-Danlos syndrome and its surgical implications. Clin Ter 1990; 132: Watanabe A, Kawabata Y, Okada O, Tanabe N, Kimura H, Hatamochi A, Shinkai H, Sakai N, Shimada T, Hiroshima K, Kuriyama T. Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. Eur Respir J 2002; 19: Freeman RK, Swegle J, Sise MJ. The surgical complications of Ehlers Danlos syndrome. Am Surg 1996; 62: Ehlers-Danlos Syndrome EDS. Emergency Physician s Reference CD- ROM. Los Angeles, Ehlers-Danlos National Foundation,

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