Sildenafil improves clinical signs and radiographic features in dogs with congenital idiopathic megaoesophagus: a randomised controlled trial.

We evaluated the efficacy of oral sildenafil citrate in dogs with congenital idiopathic megaoesophagus (CIM). Twenty-one puppies were randomly assigned to two groups (treatment and control). The dogs were given sildenafil oral suspension 1 mg/kg every 12 hours for 14 days or placebo in a masked fashion. Clinical signs (frequency of regurgitation and weight gain) and oesophagrams (relative oesophageal diameter, ROD) were evaluated in order to assess the efficacy of drug treatment, by examiners who were unaware of the study protocol. In addition, a set of in vitro experiments on isolated samples of canine lower oesophageal sphincter (LOS) was performed, and the effects of increasing concentrations of sildenafil on basal tone and electrically-stimulated motility were assessed. Sildenafil administration significantly reduced the number of regurgitation episodes (0.88±1.40 v 2.65±1.56, P<0.0001) and significantly increased weight gain in the treated dogs compared to controls (79.76±28.30 per cent v 53.40±19.30 per cent, P=0.034). ROD values, at the end of the treatment period, were significantly decreased in the sildenafil group, compared to pre-treatment values (0.97±0.19 v 0.24±0.14, P<0.0001), in contrast to control subjects (0.98±0.17 v 1.10±0.25, P=0.480). In accordance with the in vivo findings, sildenafil dose-dependently reduced basal tone and increased electrically-induced relaxation of dog LOS samples. These results suggest that sildenafil citrate helps ameliorate clinical and radiographic signs in dogs with CIM by reducing LOS tone, and could represent a novel therapeutic tool for the treatment of this disease.

[Dysphagia and Sonography: what Association?]. / Dysphagie und Ultraschall: welcher Zusammenhang?

Achalasia is a primary esophageal motility disorder characterized by dysphagia, chest pain, and drug-resistant reflux symptoms. A detailed anamnesis and esophageal manometry are essential tools for a correct diagnosis. We present a case of a 31 years old woman with typical achalasia symptoms misdiagnosed for many years due to a complex background picture. Despite the evolution in medical sciences, this clinical case underlines the cornerstones of medical profession: patient-physician relation and bedside clinical approach. At the same time, it confirms the increasing role of ultrasonography as a simple but essential tool for a complete general-internal medicine evaluation.

Congenital cricopharyngeal achalasia in a 4.5-year-old managed by cervical myotomy: a case report.

INTRODUCTION: Congenital cricopharyngeal achalasia (CCA) is a rare disorder in children characterized by inappropriate contraction of the cricopharyngeus muscle, resulting in the inability to relax the upper esophageal sphincter during deglutition. We report the diagnostic process and management of a relatively older patient who underwent cricopharyngeal myotomy at the age of 4.5 years. METHODS: A retrospective review of the case and clinical follow-up was performed. RESULTS: This young patient had a long history of dysphagia, choking, nasal reflux and recurrent pneumonia and croup since birth and was diagnosed with CCA at 22 months of age. She underwent balloon dilation of the cricopharyngeus muscle shortly thereafter with only transient relief of her symptoms of feeding difficulty (choking and aspiration). The parents were reluctant for her to undergo further interventions until 2 years later when they consented to cricopharyngeal myotomy. She underwent transcervical myotomy at age 4.5 years and had complete relief of her symptoms. She had no post-operative complications and has done well for nearly 12 months following myotomy. DISCUSSION: Our patient is one of the oldest children reported to have undergone myotomy, recovered quickly, and had no difficulty swallowing at any time following surgery. We suggest transcervical cricopharyngeal myotomy as the preferred treatment due to its lasting effects and repeated success in relieving dysphagia in young patients with CCA.

Congenital cricopharyngeal achalasia: a rare cause of dysphagia in an infant.

Dysphagia secondary to congenital cricopharyngeal achalasia (CCA) is a rare condition in pediatric patients. We report a case of CCA in a 10-month-old boy presented with dysphagia, choking and nasal reflux. The diagnosis was made by barium studies. The patient was successfully treated by cricopharyngeal myotomy.

Congenital achalasia: facts and fantasies.

Achalasia, a poorly relaxing lower esophageal sphincter, produces a functional obstruction and the expected symptoms of dysphagia, regurgitation and eventually weight loss. The cause of achalasia remains largely unknown in Western countries, Chagas' disease being the most frequent etiology in Brazil. We report on two sets of monozygotic male twins with typical manifestations of achalasia. The majority of authors attribute a limited contribution unless achalasia is related to a multisystem disorder, like the triple-A or Allgrove's syndrome, an autosomal recessive disease characterized by the triad of adrenocorticotropic hormone (ACTH) resistant adrenal insufficiency, achalasia and alacrima. The four cases reported demonstrated the genetic influence of achalasia in patients without multisystem disorders. We believe that idiopathic achalasia is a syndrome with similar clinical, pathological, radiological and manometric evolution, but with a great variety of etiological agents, one of them being the congenital form.

Congenital megaesophagus with hypertrophic osteopathy in a 6-year-old dog.

Congenital megaesophagus is often sufficiently debilitating to a young puppy to result in an owner's request for euthanasia. If medically managed, some puppies may develop a functional esophagus and mature normally; in others, the dilation may persist, but nutritional support may be sufficient to allow skeletal maturation. Hypertrophic osteoarthropathy or hypertrophic osteopathy is well recognized in many animal species. Pulmonary neoplasia is most commonly associated with development of the secondary bone changes, but numerous other causes exist. The chronic changes of hypertrophic osteopathy were identified in a 6-year-old German Shepherd that was debilitated by persistent congenital megaesophagus. To the investigators' knowledge, a relationship between long-term esophageal dilatation and hypertrophic osteopathy has only been reported once in a human patient.

Selective vagal afferent dysfunction in dogs with congenital idiopathic megaoesophagus.

Congenital idiopathic megaoesophagus (CIM) is a rare, naturally occurring disorder of the dog that is characterised by deficient motility and dilatation of the oesophagus. Recent studies indicate that the vagal sensory system mediating reflexes induced by oesophageal distension is defective in, and may underlie the pathomechanism of this disorder. We sought to establish whether other distension sensitive vagal afferent systems were impaired in CIM, or whether the vagal afferent dysfunction was selective. Thus, we examined the Hering-Breuer lung inflation reflex (HBR), which is subserved by a contiguous and physiologically similar vagal afferent system, in five dogs with CIM in which oesophageal vagal afferent dysfunction had been demonstrated. At varying levels of lung inflation, we found the HBR to be normally graded and of normal strength in affected dogs and that this result was unlikely to be influenced by other factors known to alter the strength of the reflex. These observations provide evidence for an organ specific, selective vagal afferent dysfunction in dogs with CIM. It is possible that similar processes may be active in disorders of visceral organ systems subserved by vagal afferents in other species, including man.

Congenital cricopharyngeal achalasia: Diagnosis and surgical management.

BACKGROUND: Congenital cricopharyngeal achalasia is a rare condition in which a newborn presents with dysphagia, choking, nasal reflux, and salivation. Awareness of this condition is important because simple myotomy of the cricopharyngeus muscle often solves the problem. METHODS: The diagnosis and the surgical management of cricopharyngeal achalasia were reviewed based on 4 cases experienced over the last 13 years. RESULTS: The severity of the symptoms and the age of onset were dependent on the severity of achalasia. The cine-fluoroscopic swallow is an important diagnostic procedure. Surgery should be performed early enough for infants to learn how to swallow properly. The surgical procedure involves complete myotomy of cricopharyngeus, allowing the submucosa of the esophagus to bulge out in the posterior midline region. Postoperatively, nasopharyngeal reflux may resolve immediately or decrease over several months, depending on the timing of surgical intervention and the patient's ability to learn the act of swallowing. CONCLUSIONS: Early surgical intervention for this disease is recommended to achieve early recovery from dysphagia and to establish buccopharyngeal swallowing during the appropriate period of development.

Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers.

Allgrove syndrome (AS), also known as triple-A syndrome, is a rare cause of congenital adrenal insufficiency due to adrenocorticotropic hormone resistance. It is inherited in an autosomal recessive manner and is associated with achalasia, alacrima, and other neurological abnormalities, including autonomic, sensory, and upper- and lower-motor neuropathy, deafness, and mental retardation. Although the etiology of AS remains unknown, recently the disease was linked to a chromosome 12 locus (corresponding cytogenetic band 12q13) in consanguineous families of European ancestry. In the present study, we investigated four nonconsanguineous families with documented inheritance of AS for linkage with the reported 12q13 locus. Eighteen subjects were studied, of whom five were affected by AS. DNA was extracted from peripheral blood lymphocytes and amplified by standard methods with primers from polymorphic sequence tagged sites (STSs) located in the chromosome 12q13 region. Two-point logarithm-of-odds (LOD) score analysis revealed a maximum LOD score of 1.7 for STSs D12S361 and D12S368 without any recombinants [recombination distance (theta) = 0]. Multipoint linkage analysis defined an area of estimated genetic distance less than 0.5 cM (approximately 500,000 bp) between STSs D12S361 and D12S359 that is most likely to contain the AS gene(s). We conclude that, in Puerto Rican families, AS segregates with polymorphic markers that have been mapped to the chromosome 12q13 locus, revealing the absence of heterogeneity for this syndrome in a genetically distinct population. Candidate genes in the region include those that code for several of the keratin proteins, transcription factors, and others.

Vagal esophagomotor nerve function and esophageal motor performance in dogs with congenital idiopathic megaesophagus.

OBJECTIVES: To examine the integrity of the vagal efferent innervation to the esophagus and to assess esophageal motor performance in dogs with congenital idiopathic megaesophagus. DESIGN: An acute experimental protocol performed in control dogs and dogs with naturally acquired congenital idiopathic megaesophagus under pentobarbitone anesthesia. ANIMALS: 4 dogs with congenital idiopathic megaesophagus and 16 control dogs. PROCEDURE: Esophageal motor nerve conduction studies were performed by recording evoked compound motor action potentials from the tunica muscularis of the distal thoracic portion of the esophagus in response to supramaximal stimulation of the cervical portion of the vagus nerve at cranial and caudal sites. Subsequently, esophageal motor performance was measured over a wide range of esophageal muscle lengths by recording intraesophageal pressure responses to supramaximal twitch and tetanic stimulation of the cervical portion of the vagus at varying, stepwise amounts of esophageal distention. RESULTS: In dogs with congenital idiopathic megaesophagus, no electrophysiologic evidence was found for segmental demyelination or axonal degeneration in cervical vagal motor fibers innervating striated muscle of the thoracic esophagus portion. Nor was spontaneous EMG activity, indicative of esophageal muscle denervation or a primary myopathy, observed. In contrast, esophageal motor performance, which was dependent on esophageal dimensions, was reduced in dogs with congenital idiopathic megaesophagus. CONCLUSIONS: In dogs with congenital idiopathic megaesophagus, the vagal efferent innervation to the esophagus is likely to be normal, a primary esophageal myopathy is unlikely to be present, and the observed reduction in esophageal motor performance may arise as a secondary consequence of altered esophageal biomechanical properties rather than from a primary neuromuscular abnormality.

Vagal afferent dysfunction in naturally occurring canine esophageal motility disorder.

Few studies have examined the vagal afferent innervation of the esophagus in naturally occurring esophageal motility disorders. The present study assessed the integrity of distension-sensitive vagal afferents innervating the esophagus in naturally occurring canine megaesophagus. In the dog, esophageal distension induces reflex inhibition of crural diaphragm electromyographic activity that is mediated by vagal afferents innervating esophageal mechanoreceptors. This reflex was measured during stepwise esophageal distension in six dogs with congenital idiopathic megaesophagus, two dogs with megaesophagus secondary to esophageal striated muscle disease, and eight matched controls. In contrast to control dogs, inhibition of crural electromyographic activity was not observed in megaesophagus dogs with esophageal distension within the control volume range. With esophageal distensions far in excess of the control volume range, inhibition of crural electromyographic activity was not observed in five of six dogs with congenital idiopathic megaesophagus, while crural inhibition was observed in the two dogs with secondary megaesophagus. These findings indicate that a defect is present in the vagal afferent innervation to the esophagus in a majority of dogs with congenital idiopathic megaesophagus.

Primary neonatal cricopharyngeal achalasia: a case report and review of the literature.

Primary cricopharyngeal achalasia is a rare cause of dysphagia in the pediatric population. In a review of the literature, only 11 well-documented cases were discovered. We report the case of a newborn with cricopharyngeal achalasia who was successfully treated with a myotomy of the upper esophageal sphincter. A review of the literature is presented and treatment options are discussed.

Megaesôfago congênito / Congenital megaesophagus

Apresentam os autores um caso de criança de 4 anos de idade com diagnóstico clínico, radiológico, endoscópico, manométrico e anátomico patológico de megaesôfago, provavelmente congênito. O tratamento realizado foi a operaçäo de Heller associada `a manobra anti-refluxo da redondocardiopexia. O resultado da operaçäo foi considerado bom. No primeiro mês de pós operatório a criança já deglutia normalmente e no 8ª mês, estava assintomática e ganhara 9,7 Kg. Os exames de controle realizado mostraram acentuada reduçäo do calibre do esôfago, fácil passagem pela cardia e ausência de refluxo gastro-esofágico