Pyloric atresia and epidermolysis bullosa letalis: a lethal combination in two premature newborn siblings.

Pyloric atresia and epidermolysis bullosa letalis are rare congenital anomalies. The association of the two diseases in siblings has not been reported previously. This paper describes such as association in two newborn infants of caucasian parents with no family history of similar anomalies. Problems in management included severe fluid and electrolyte losses, systemic infection, and prematurity, which led to the death of the two infants. The question is raised whether the two abnormalities are expressions of closely linked genes. The presence of epidermolysis bullosa should alert the pediatrician to the possiblity of a coexisting pyloric atresia.     

Pyloric atresia: a new operation to reconstruct the pyloric sphincter

Background/purpose

The standard method of surgical correction of pyloric atresia “solid segment” type is a gastroduodenostomy that can in the long term cause bilious duodenogastric reflux. The authors report 2 cases of pyloric atresia in which the pyloric sphincter was reconstructed by a new technique of gastroduodenal mucosal advancement anastomosis.

Methods

Two premature babies with “solid segment”-type pyloric atresia, one with an associated junctional epidermolysis bullosa, underwent surgery for reconstruction of the pyloric sphincter. By a longitudinal incision of the atretic pylorus, the cul-de-sacs of gastric and duodenal mucosa were isolated in the respective gastric and duodenal sides, advanced into the opened pyloric canal, and sutured together using end-to-end anastomosis. The longitudinal pyloromyotomy then was closed above the reconstructed mucosal pyloric neocanal.

Results

The postoperative course was normal. At 7 years (patient 1) and 2 years (patient 2) after the operation, both are well, and no gastrointestinal disorders are present. Good competence of the pyloric sphincter has been confirmed by x-ray barium meal in both cases, and by HIDA technetium 99m hepatic scintiscan and esophagogastroduodenoscopy (EGD) with biopsy in patient 1.

Conclusions

Our technique of surgical correction of pyloric atresia allows preservation of the pyloric sphincter, whose muscular layer, although hypoplastic, is present in these cases.     

Pyloric atresia

We present a case of a female newborn with a single air bubble on abdominal x-ray by pyloric atresia and a short review of the literature.     

Pyloric atresia: 15-year review from a single institution

Background:

Pyloric atresia (PA) is a rare pathology. Calder presented the first pyloric atresia case in 1749 and Touroff, Sussman, Meltz, and their colleagues presented the first successful operation in 1940. PA has 3 types of anatomic variations: (1) type A, pyloric membrane or web; (2) type B, the pyloric channel is a solid cord; and (3) type C, in which there is a gap between the stomach and duodenum. Associated anomalies also have been described. Epidermolysis bullosa (EB) and intestinal anomalies occur most often with this condition.

Methods:

Charts of 16 cases of congenital PA, aged 1 to 30 days and admitted to our department between 1986 and 2001, were studied retrospectively in regard to sex, prenatal diagnosis, presence of polyhydramnios, time of admission, pathology, type of operation, associated anomalies, and mortality rate.

Results:

In the study group, the male to female ratio was 5:3, the mean birth weight was 2,312 g and the mean age of admission was 6.5 days. The distribution of the anatomic variations was type A in 9 (56.3%) and type B in 7 (43.7%) of cases. Associated anomalies were present in 7 cases (43.8%). Familial occurrence was a prominent feature of our series. Seven of 16 cases occurred in 3 families. We performed 9 web excisions together with Heineke Mikulicz (H-M) pyloroplasty, 5 atresia excisions and gastro-duodenostomy, and 2 H-M pyloroplasties alone. Stamm gastrostomy was supplemented in 3 cases. The overall mortality rate (n = 9) was 56.3%.

Conclusions:

Pyloric atresia can be managed succesfully if it is diagnosed early. In this group of patients, congenital anomalies or septicemia are the main causes of mortality.     

Pyloric atresia associated with Dieulafoy lesion and gastric dysmotility in a neonate

In this case study, we report a male infant with pyloric atresia, extreme gastric distension, and a caliber-persistent gastric artery (Dieulafoy lesion) with massive gastric bleeding. After a transverse pyloroplasty and endoscopic hemoclip application to the caliber-persistent gastric artery, very slow gastric emptying developed, which required repeated surgical interventions. Gastroduodenostomy failed to promote gastric emptying. The intraoperative and postmortem histologic examinations of the gastric wall revealed a loss of interstitial cells of Cajal, which possibly explains the extreme motility disorder.     

Congenital pyloric atresia,presentation, management,and outcome: A report of 20 cases

Background

Congenital pyloric atresia (CPA) is a very rare anomaly. It is usually seen as an isolated condition with excellent prognosis. Few cases are familial. These are usually associated with other hereditary conditions and have a poor prognosis. This is a review of our experience with 20 patients with CPA outlining aspects of diagnosis, associated anomalies and management.

Patients and methods

This is a retrospective analysis of 20 cases seen over a 22 year period (December 1990 to December 2012). Their records reviewed for: age, sex, presentation, prenatal history, associated anomalies, investigations, treatment, operative findings and the outcome.

Results

20 cases (9 Males, 11 Females) were treated. 7 patients were full term and the remaining 13 were prematures. Their mean birth weight was 2.1 kg (1.1 kg to 3.9 kg). Polyhydramnios was seen in 13 patients (65%). Two were brothers and four were members of the same family. Isolated CPA was seen in 7 (35%); 13 had an associated conditions: epidermolysis bullosa (EB) in 8 (40%) and multiple intestinal atresias (MIA) in 5 (25%). Three patients had associated esophageal atresia. All were operated on except two who died early due to unrelenting sepsis. The variety of pyloric atresias encountered were as follows: pyloric diaphragm in 13 including double diaphragms in 2, pyloric atresia with a gap in 4 and pyloric atresia without gap in 3. Ten died postoperatively giving an overall survival of 40%.

Conclusions

CPA is a very rare condition. Isolated CPA carries a good prognosis. Association of CPA with other familial and congenital anomalies like EB and MIA carries a poor prognosis.     

Anesthesia for a patient with recessive dystrophic epidermolysis bullosa

Two different anesthetic methods were employed for a patient with recessive dystrophic epidermolysis bullosa (R-DEB).One was plexus brachial block in combination with ketamine infusion. The other was general anesthesia with N₂O-O₂-halothane via a face mask. In the former, no particular problem developed. In the later, however, some blisters were newly formed on the region where the anesthesists fingers were attached to hold a face mask.Although mask anesthesia was considered to be not always suitable for patients with DEB, we chose it because tracheal intubation may cause more serious damage to the upper airway leading to airway obstruction.(Tsukamoto N, kobayshi E, Kasuda H et al.: Anesthesia in a patient with recessive dystrophic epidermolysis bullosa. J Anesth 3: 223–226, 1989)     

Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature

The coexistence of pyloric atresia (PA) and epidermolysis bullosa (EB) is a rare but well-known surgical emergency in neonates. PA/EB is described by the association of atresia of the pylorus and bullous lesions on the skin. Ninety one cases have been reported in the literature to date. We present two new cases and evaluate the association of PA/ EB, its etiopathogenesis and the clinical properties. Case 1: A three-day-old female presented with nonbilious vomiting and bullous lesions 2-3 cm in diameter on the extremities. Abdominal X-ray showed a single air-fluid level in the left upper quadrant. At laparotomy, we found PA and performed a pyloro-pylorostomy. The patient died due to sepsis complication of EB two months after surgery. Case 2: A two-day-old male presented with severe dermal bullous lesions on the trunk, neck and extremities. His stomach was dilated and there was no gas distally. We found PA and performed gastroduodenostomy. Initially, he tolerated the feeding well, but he died due to severe sepsis on the postoperative 23rd day. Almost all neonates born with the PA/EB result in a fatal outcome in the first few years. The complications related to EB are usually the cause of death. Even after successful repair of PA, skin lesions lead to death due to infection.     

Genitourinary involvement in epidermolysis bullosa: clinical presentations and therapeutic challenges

Study Type – Therapy (case series)
Level of Evidence 4

OBJECTIVES

To present our experience of children with epidermolysis bullosa (EB; a rare bullous disorder of the skin) with genitourinary involvement.

PATIENTS AND METHODS

The medical records of eight children diagnosed with EB (six junctional and two dystrophic type) with genitourinary involvement were reviewed retrospectively. The data collected included age, clinical presentation, ultrasonographic findings, voiding cystourethrography, urodynamic and uroflowmetry studies, and the treatment challenges. The outcomes of the interventions were evaluated every 6 months.

RESULTS

The mean age was 2.3 years (range 1 day to 7 years). The most common clinical presentations were urinary retention and voiding difficulty. Meatomy was performed in two of three boys followed by diminution of urological complaints. In children with vesico‐ureteric reflux, subureteric injections of bulking agent and ureteric stenting were satisfactory. Detrusor instability and bladder compliance improved after α‐blocker therapy. The mean (range) follow‐up was 62.6 (11–120) months except for two who died in early infancy.

CONCLUSIONS

Considering the potential urological involvement in every child with EB it is essential to provide patients with early appropriate treatment. Management of urological problems should preferably be in a way to entail minimal interventions and if required be performed using small sized instruments. Medical therapy seems promising for voiding dysfunction in this subset of patients.     

Continuous axillary block for upper limb surgery in a patient with epidermolysis bullosa simplex

We report the use of continuous regional block with light general anaesthesia in epidermolysis bullosa simplex. A 4-year-old girl suffering from florid epidermolysis bullosa simplex was scheduled for external fixator (JESS) for manus valgus deformity of the left forearm. Haemoglobin was 7.6 g.dl(-1) and blood chemistry was normal. She had no history of oral bullae, although a younger sibling had died of Bart syndrome with oral lesions. She was sedated with nasal midazolam 0.5 mg.kg(-1). All pressure points were cushioned. Inhalational anaesthesia was given by holding a mask above her face. Only oximetry and capnography were monitored. ECG and noninvasive blood pressure monitoring were avoided. The intravenous cannula was fixed by sutures. An epidural catheter of 0.63 mm OD (21-G) was passed into the axilla for continuous axillary block. Intra- and postoperative course was uneventful with slight bullae at the i.v. site and at the fixator which healed without further damage. The axilla remained free of problems. Continuous peripheral plexus or nerve blocks can be an option in these difficult patients, and can minimize the amount of general anaesthesia along with problems of airway handling and potential subsequent mucosal lesions. The postoperative period was pain free and comfortable.     

Review article: Perioperative care of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa,Santiago Chile,December 4–6, 2008

Epidermolysis bullosa (EB) has become recognized as a multisystem disorder that poses a number of pre‐, intra‐, and postoperative challenges. While anesthesiologists have long appreciated the potential difficult intubation in patients with EB, other systems can be affected by this disorder. Hematologic, cardiac, skeletal, gastrointestinal, nutritional, and metabolic deficiencies are foci of preoperative medical care, in addition to the airway concerns. Therefore, multidisciplinary planning for operative care is imperative. A multinational, interdisciplinary panel of experts assembled in Santiagio, Chile to review the best practices for perioperative care of patients with EB. This paper presents guidelines that represent a synthesis of evidence‐based approaches and the expert consensus of this panel and are intended to aid physicians new to caring for patients with EB when operative management is indicated. With proper medical optimization and attention to detail in the operating room, patients with EB can have an uneventful perioperative course.     

A proposed classification system for familial intestinal atresia and its relevance to the understanding of the etiology of jejunoileal atresia

Familial cases of the various types of intestinal atresia are well described, and we now report an additional family. Based on a review of the literature, a classification system for the different types of familial atresia is presented. Current teaching attributes most jejunoileal atresias to in utero vascular accidents occurring relatively late in gestation (after the 11th or 12th week). Although some cases clearly occur this way, as a result of processes such as volvulus and intussusception, knowledge of the familial form of the disease indicates that most cases of jejunoileal atresia actually result from disruption of a normal embryologic pathway, most likely the development of the superior mesenteric artery and its branches. They should be considered to be true embryologic malformations rather than acquired lesions.     

Deep sedation with intravenous infusion of combined propofol and ketamine during dressing changes and whirlpool bath in patients with severe epidermolysis bullosa

Continuous i.v. infusion of propofol, or propofol plus ketamine for deep sedation and analgesia was carried out in two patients with severe epidermolysis bullosa (EB) during extensive dressing changes and deep whirlpool baths. Intermittent small doses of narcotics were given as supplement for pain relief as needed. Both patients had typical features of severe EB, including extremity contractures, severe digit deformity, difficult airways, extensive blisters and broken skin with denuded areas and severe wound infections. SpO(2) was roughly estimated by holding the probe around the earlobe periodically and no other monitors could be applied because of the skin conditions and the settings of the procedures. Retrospective anesthesia record review showed that the combined propofol and ketamine infusions provided satisfactory sedation with significantly reduced narcotic requirements compared with propofol alone. There were no noticeable side effects when ketamine was added. Ketamine appears to be a good addition to propofol and narcotics to provide sedation and analgesia when there are great concerns for respiration depression, apnea, difficult pain management and potential unstable hemodynamics during dressing changes and whirlpool baths in severe EB patients.     

In utero diagnosis of congenital pyloric atresia in a single twin using MRI and ultrasound

Congenital pyloric atresia (CPA) is a rare disorder that has traditionally been diagnosed in the postnatal period. With improvements in ultrasound technology and increasing use of MRI, CPA is now diagnosed with increasing accuracy in utero. This also allows for identification of concomitant anomalies, which greatly affects infant survival. In addition, antenatal diagnosis of CPA and associated anomalies allow for family counseling and planning of treatment for the perinatal period including early referral to a center with pediatric surgical services. Here, we present a case of CPA with preoperative diagnosis using ultrasound and MRI.     

Nitrous oxide for procedural analgesia at home in a child with epidermolysis bullosa

Epidermolysis bullosa comprises a range of conditions characterized by fragile skin with painful blistering induced by minor trauma and friction. The Dowling‐Meara variant is a severe form characterized by disseminated painful blistering requiring lifelong skin and wound care. The natural history of the disease is characterized by a chronic course that tends to improve with advancing age. Various multimodal analgesic strategies have been proposed for painful procedures in children with epidermolysis bullosa. In this case report, we describe the use of nitrous oxide for pain control at home of blister treatments in a 4‐year‐old child with the Dowling‐Meara variant.