Francesco Morini

Long term follow-up in high-risk congenital diaphragmatic hernia survivors: patching the diaphragm affects the outcome

BACKGROUND/PURPOSEnThe increased survival rate reached in infants with congenital diaphragmatic hernia (CDH) has shown a concomitant increase in late morbidity. A recent report from CDH Study Group showed that dimension of diaphragmatic defect is the only independent risk factor of mortality. However, the influence of defect size on late morbidity is still controversial. The aim of the study was to evaluate the influence of patch repair (proxy of diaphragmatic defects size) on midterm morbidity.nnnMETHODSnAll high-risk (prenatal diagnosis and/or respiratory symptoms within 6 hours of life) CDH survivors treated at our institution from 2004 to 2008 were followed up in a multidisciplinary outpatient clinic as part of a longitudinal prospective study. Auxological, gastroesophageal, pulmonary, and orthopedic evaluations were performed at 6, 12, and 24 months of age. Patient outcomes were compared with respect to +/- patch repair.nnnRESULTSnOf 70 survivors, 61 (87%) were enrolled and prospectively evaluated in follow-up. Poorer auxological outcome, increased rate of gastroesophageal reflux, and altered pulmonary function test were observed during follow-up.nnnCONCLUSIONSnPatch repair correlates with higher pulmonary, auxological, and gastroesophageal morbidity without increasing chest wall deformities at long-term follow-up.

Symptomatic vocal cord paresis/paralysis in infants operated on for esophageal atresia and/or tracheo-esophageal fistula

OBJECTIVESnTo describe the prevalence and pathogenesis of symptomatic vocal cord paresis/paralysis (VCP) in patients treated for esophageal atresia (EA), tracheo-esophageal fistula (TEF) or both.nnnSTUDY DESIGNnRetrospective study of all patients treated for EA/TEF in our center (1995 to 2009). Patients with and without symptomatic VCP were compared for gestational age, birth weight, associated anomalies, referrals, long-gap EA (> 3 cm or 3 vertebral bodies), cervical esophagostomy, anastomotic leakage, length of ventilation, and major cardiac surgery. Prevalence or median (IQR) is reported.nnnRESULTSnOf 174 patients, 7 (4%) had symptomatic VCP. Prevalence of referrals (5/7 versus 21/167; P = .0009), long gap (5/7 versus 41/167; P = .0146), previous cervical esophagostomy (5/7 versus 7/167; P < .0001), and anastomotic leakage (3/7 versus 10/167; P = .0097) was higher, and ventilation longer (8.5 days [7.0 to 15.5] versus 6.0 days (5.0 to 7.0); P = .0072) in patients with VCP.nnnCONCLUSIONSnIn infants treated for EA/TEF, VCP should be ruled out in case of persistent respiratory morbidity or, when present, cautiously monitored. Surgical risk factors should be actively controlled. Further studies are needed to define the prevalence of acquired and congenital VCP in patients with EA/TEF.

Pattern of cardiovascular anomalies associated with esophageal atresia: support for a caudal pharyngeal arch neurocristopathy.

Patients with cephalic neurocristopathy (an abnormality of neural crest differentiation) present a striking pattern of associated cardiovascular anomalies (CVA). Therefore, to support the hypothesis that esophageal atresia (EA) may be related to a defective contribution from the cephalic neural crest, we studied the pattern of CVA associated with EA. Medical records of 99 patients with isolated EA, 101 with isolated anorectal malformations (ARM) and 15 with both EA and ARM, consecutively admitted to our unit, were reviewed. The prevalence and pattern of CVA associated with isolated EA or isolated ARM were compared on the assumption that the cranial or caudal location of a major malformation is related to a different regional patterning of associated anomalies. The prevalence of CVA was 39% in patients with isolated EA and 7% in those with isolated ARM (p < 0.01). Neural crest–related CVA (aortic arch anomalies, conotruncal defects, and superior vena cava malformations) accounted for 72% of all CVA in patients with isolated EA versus 14% in those with isolated ARM (p < 0.02). In patients with isolated EA, anomalies of the fourth and sixth aortic arch derivatives accounted for 75% of all neural crest related CVA. The present pattern of CVA in infants with EA supports the concept that EA may be related to an abnormal contribution from caudal portion of cephalic neural crest.

Difficult esophageal atresia: trick and treat.

Although most patients with esophageal atresia (EA) and tracheo-esophageal fistula (TEF) may benefit from standard management, which is deferred emergency surgery, some may present unexpected elements that change this paradigm. Birth weight, associated anomalies, and long gap can influence the therapeutic schedule of the patients with EA/TEF and can make their treatment tricky. As a consequence, detailed information on these aspects gives the power to develop a decision-making process as correct as possible. In this article, we will review the most important factors influencing the treatment of patients with EA/TEF and will share our experience on the diagnostic and therapeutic tips that may provide pivotal help in the management of such patients.

VACTERL association in anorectal malformation: effect on the outcome.

PurposeAnorectal malformations (ARM) can commonly occur in association with other congenital anomalies or as part of the combined anomaly. The present study aims to assess the outcome of patients with ARM and patients with ARM in VACTERL association.MethodsA 12-year retrospective analysis of all patients treated at a single tertiary children’s institution with a diagnosis of ARM. We identified and compared patients with ARM to those with ARM in VACTERL association (3 or more anomalies). Data were collected for both groups to assess type of ARM, urinary incontinence (UI), constipation, soiling, dietary/laxative treatment, bowel management (BM) and surgical complications. Type of lesion and clinical outcomes were classified according to Krickenbeck International classification. Patients lost to follow-up, dead or not yet toilet-trained (or <4xa0years old) were excluded.ResultsOne hundred ninety-eight patients were identified, 174 enrolled in the study. Lesions were classified for each study group (VACTERL− vs VACTERL+) as perineal fistulas (36.4 vs 9.7xa0%, pxa0=xa00.0028), rectourethral fistulas (prostatic and bulbar) (23.1 vs 38.7xa0%, pxa0=xa0ns), rectovesical fistulas (3.5 vs 9.7xa0%, pxa0=xa0ns), rectovestibular fistulas (19.6 vs 22.6xa0%, pxa0=xa0ns), cloacal malformations (4.9 vs 9.7xa0%, pxa0=xa0ns), no fistula (4.9 vs 3.2xa0%, p=), others (7.7 vs 6.4xa0%, pxa0=xa0ns). The frequency of both dietary/laxative treatment and BM, as well as surgical complications were significantly higher in patients with VACTERL.ConclusionsThe coexistence of VACTERL anomalies negatively affects not only the surgical outcome but also the bowel functioning. Therefore, a dedicated follow-up is strongly recommended. Further studies are needed to assess if this has an impact on the quality of life of these patients.

Bilateral anophthalmia and esophageal atresia: Report of a new patient and review of the literature

The association of anophthalmia and esophageal atresiawas first reported by Schenk et al. [1976] in a 28 mm human embryo. Since then, 15 further cases have been reported [Sassani and Yanoff, 1977; Rogers, 1988; Arroyo et al., 1992; Lurie et al., 1995; Sandler et al., 1995; Tucker et al., 1996; Ulman et al., 1996; Shah et al., 1997; Imaizumi et al., 1999; Menetrey et al., 2002; Messina et al., 2003; Petrackova et al., 2004], supporting the concept that the association should be considered a distinct syndrome. Although a genetic cause may be implicated, the etiology still remains unknown. We report a further patient with the association of esophageal atresia and anophthalmia and review the literature with particular emphasis on the associated anomalies, suggesting a role for the neural crest in its development. The patientwas born by emergency cesarean section for fetal bradycardia at 38weeks of gestation to a 29-year-old gravida 3, para 3. The present pregnancy was complicated by polyhydramnios and esophageal atresia was suspected on prenatal ultrasound at 36 weeks of gestation. During pregnancy, the mother smoked 5 cigarettes per day. Otherwise there was no known exposure to drugs or teratogens. The parents were nonconsanguineous, and the family history was positive for coronary disease in the maternal grandparents. Her birth weight was 2,956 g, length 48 cm (10th–50th centile), head circumference 34 cm (>50th centile). Apgar scores were 9 and 10 at 1 and 5 min. At birth, in addition to a pure esophageal atresia without tracheo-esophageal fistula, bilateral anophthalmia, and a patent ductus arteriosuswere found. Therewas no evidence of facial dysmorphism. The remainder of physical examination was normal. No vertebral or limbs anomalies were detected on radiographs. Karyotype was normal (46,XX). On day 3 of life, she underwent cervical esophagostomy and gastrostomy in another institution. At 5 months of age, she underwent esophageal replacement by gastric transposition, the cervical esophagus was anastomosed to the gastric fundus in the neck, and a feeding jejunostomy was performed. The baby was electively ventilated for three days post-operatively. The post-operative course was complicated by bilateral pleural effusions, which required drainage. Microcephaly (head circumference: 40 cm; 2nd centile for the age) was evident at a neurological examination. A brain CT scan was normal. By theage of 8months shewasable to take feedsbymouth, and the jejunal tube was removed. At 21 months, neurological motor examination revealed mild spastic diplegia and moderate hearing loss, which was secondary to recurrent episodes of otitis media. Developmental evaluation using the Reynell– Zinkin Scales for blind children, showed mild retardation, at 23 and 33 months. A subsequent brain MRI confirmed bilateral anophthalmia, with mild ventriculomegaly, some white matter changes posteriorly, and a normal pituitary stalk. At 4 years, she has no feeding problems, and weight and height are at the 3rd centile for her age. This is the 17th reported patient with the association of microphthalmia/anophthalmia and esophageal atresia. In addition to these malformations, all patients had one or more associated anomaly including central nervous system (CNS), craniofacial, urogenital, cardiovascular, and skeletal defects. Patients with the association of microphthalmia/anophthalmia and esophageal atresia may be divided in two groups. (A) Those with anophthalmia, all except one [Imaizumi et al., 1999] who are bilaterally affected and seem to have more severe associated anomalies. (B) Those with microphthalmia, with one exception [Shah et al., 1997] who are unilaterally affected and apparently present with less severe associated anomalies. However, two patients with microphthalmia had contralateral eye abnormalities [Imaizumi et al., 1999; Messina et al., 2003], suggesting a bilateral involvement of eye development. It is not easy to distinguish between unilateral microphthalmia and bilateral microphthalmia with asymmetric involvement of the eyes, unless axial length of the eye, adjusted for age, is assessed [Harayama et al., 1981; Tucker et al., 1992]. In addition, true anophthalmia can be diagnosed only histologically (possible in only three reported patientswith the association ofmicrophthalmia/anophthalmia and esophageal atresia [Schenk et al., 1976; Sassani and Yanoff, 1977; Menetrey et al., 2002]), and in most instances, clinical anophthalmia is probably only extreme microphthalmia. In a series of 17 patients with clinical anophthalmia, at a more detailed assessment all hadmicrophthalmia [Jacquemin et al., 2000]. Consequently, in this collected series it is difficult to draw any conclusion on differences between patients with anophthalmia and micropthalmia as far as concern unior bilateral involvement and the prevalence and severity of associated anomalies. However, previous studies on large series of patients with anophthalmia or microphthalmia, have shown no differences in prevalence and severity of associated anomalies between these two entities [Tucker et al., 1996; Jacquemin et al., 2000], supporting the concept that they may represent different parts of the same spectrum. The development of the eye depends upon complex interactions between different embryonic tissues, including the neuroectoderm of the forebrain, the surface ectoderm of the head, themesodermbetween these layers, and the neural crest [Moore and Persaud, 1998]. The participation of the latter is further supported by experimental studies [Ozeki and Shirai, 1998]. Administration to pregnant mice of retinoic acid, a teratogen acting on neural crest cells, is followed by a high prevalence of eye anomalies in the fetuses, including microphthalmos. Recently, esophageal atresia was related to an abnormality of the cephalic neural crest based on the high prevalence of autonomic disturbances and facial anomalies [Cozzi et al., 1993] and on the pattern of associated cardiovascular anomalies [Morini et al., 2001]. The association of anophthalmia/microphthalmia and esophageal atresia, may Grant sponsor: Eugenio Litta Foundation Fellowship (to FM).

European Paediatric Surgeons' Association Survey on the Management of Hirschsprung Disease

Aim This study aims to define patterns of Hirschsprung disease (HD) management. Methods An online questionnaire was sent to all European Paediatric Surgeons Association (EUPSA) members. Results A total of 294 members (61 countries) answered (response rate: 61%). Diagnosis: All respondents perform rectal biopsies (61% rectal suction [RSBs], 39% open full‐thickness), 96% contrast enema, and 31% anorectal manometry. At RSB, 17% take the most distal biopsy 1 cm above the dentate line, 34% take 2 cm, 30% take 3 cm, and 19% take > 3 cm. Rectal biopsy stainings are hematoxylin/eosin (77%), acetylcholinesterase (74%), calretinin (31%), S100 (2%), nicotinamide adenine dinucleotide‐tetrazolium reductase (2%), succinate dehydrogenase (1%), and neuron‐specific enolase (1%). A total of 85% respondents recognize entities including hypoganglionosis (69%), intestinal neuronal dysplasia (55%), and ultrashort segment HD (50%). Surgery: Pull‐through (PT) is performed at diagnosis by 33% or delayed by 67% (4 months or > 5 kg). Awaiting definitive surgery, 77% perform rectal irrigations, 22% rectal dilatation/stimulations, and 33% perform a stoma. The preferred type of PT is the Soave approach (65%), performed with transanal technique by 70% respondents. If symptoms persist after PT, most opt for conservative approach (enemas/laxatives = 76%; botulinum toxin = 27%), 30% would redo the PT. Total colonic aganglionosis: PT is performed in neonates (4%), at 1 to 6 months (29%), 6 to 12 months (37%) or older (30%). If required, a stoma is sited in the ileum (31%), according to intraoperative biopsies (54%), macroscopic impression (13%), and radiology (2%). Duhamel PT is performed by 52%, Soave by 31%, and Swenson by 17%. Overall, 31% would perform a J‐pouch. Conclusions Most aspects of HD management lack consensus with wide variations in obtaining a diagnosis. Transanal Soave PT is the most common technique in standard segment HD. Guidelines should be developed to avoid such variability in management and to facilitate research studies.

An infant with respiratory distress and failure to thrive

A 4‐month-old male was referred to the Dept of Paediatric Surgery at the authors institution, for the investigation of respiratory distress, failure to thrive and complete situs viscerum inversus since birth. A chest radiograph obtained a few hours after birth showed situs viscerum inversus, left apical atelectasis, hyperinflation and hyperlucency of the remaining left lung, and a mild shift of the mediastinum toward the right. The right lung was normal. The infant was born at term, after an uneventful pregnancy, by elective caesarean section. The parents were consanguineous and the baby had a positive maternal family history for situs viscerum inversus and chronic respiratory diseases.nnOn admission, the infants general condition was poor, his body weight was 5.490u2005kg (5th percentile) and he was 62.5u2005cm in height (10th percentile). Clinical examination disclosed tachypnoea (70 breaths·min−1), chest retractions and barrel chest. The arterial oxygen saturation in room air was 90% when the child was awake, reaching 97% with 2u2005L·min−1 of oxygen. The cardiac frequency was 150 beats·min−1. On examination of the chest, auscultation revealed diffuse bilateral expiratory wheezing and right posterobasal crackles. The remainder of the examination was compatible with situs viscerum inversus and negative. Cardiac evaluation (electrocardiogram and echocardiogram) was compatible with dextrocardia. Arterial blood gas analysis at room air showed an arterial oxygen tension of 6.8u2005kPa (51u2005mmHg) and an arterial carbon dioxide tension of 5.7u2005kPa (43u2005mmHg). Red blood cells were found at a level of 5.05×1012·L−1, haemoglobin at 14u2005g·dL−1, white blood cells at 12.6×109u2005L−1 (neutrophils 37%, eosinophils 3%, basophils 2%, lymphocytes 51%, and monocytes 7%), and the erythrocyte sedimentation rate at the first hour was 13. C‐reactive protein, immune profile, blood chemistry, and sweat test were normal. Microbiological studies for common bacteria, Mycoplasma pneumoniae , Chlamidia trachomatis …

Bronchial Adenoma: An Unusual Cause of Recurrent Pneumonia in Childhood

Primary lung tumors are rare in childhood and often overlooked owing to the nonspecific presentation. We report the case of a 15-year-old boy with a 3-year history of recurrent pneumonia always involving the right lower lobe due to bronchial mucinous adenoma. After endoscopic removal the tumor recurred locally, necessitating open surgical resection of the tumor. In a child with localized recurrent pneumonia of uncertain pathogenesis, the differential diagnosis should include a primary lung tumor. Bronchial adenomas should not be removed endoscopically; patients must undergo open thoracotomy for surgical excision.

Surgical techniques in congenital diaphragmatic hernia.

In congenital diaphragmatic hernia (CDH), surgery is considered the less controversial part of the treatment. However, surgical strategies for CDH are widely disparate and several surgical aspects are still being discussed. The aim of this review is to describe the current surgical treatment of CDH, examining its most controversial issues.