RESUMO
BACKGROUND: Hirschsprung's disease (HSCR) is a common congenital malformation of the enteric nervous system (ENS). During fetal development, ganglion cells of the ENS are derived from neural crest cells that migrate to the bowel. These cells reside principally in two ganglionated plexus: 1) The myenteric plexus, extending from the esophagus to the anus, and 2) submucous plexus, extending from the duodenum to the anus. In large animal species, there is a third plexus called Henle's or Schabadasch's plexus. ENS ganglion cells play a key role in normal gastrointestinal motility, respond to sensory stimuli and regulate blood flow. Both plexus show a high degree of independence from the central nervous system. Alterations in the embryonic development of the ENS can induce multiple pathologies in animal models and humans. CASE PRESENTATION: The present case was a female the fifth born in a litter of 5 puppies. At about 2-3 weeks of age, she suffered from abdominal distension, pain, and constipation. At approximately 8-10 weeks of age, the puppy started to vomit abundantly, and the regurgitated food appeared undigested. Progressive abdominal distention was observed, with quite visible peristaltic movements and more frequent vomiting episodes. The abdominal radiographs, based on AP and side projections, revealed an enlargement of the abdominal diameter and an increased width in the epigastric region. At 12 weeks of age, exploratory surgery revealed a stenotic segment in the jejunum, followed by a small transition zone and then a significantly reduced diameter. Immunohistochemical examinations were performed using antibodies against calretinin, S-100 protein, CD56, neuron specific enolase (NSE) and synaptophysin, which are the biological markers for diagnosing HSCR. CONCLUSION: A reduced number of ganglion cells (1-3 cells per ganglion) were found. There was no specific staining pattern for many of these; while for others, the pattern was compatible with HSCR. Surgical intervention to remove the stenotic section prolonged the life of the puppy for 13 years. Extremely rare pathologies such as that discussed herein should be studied to understand the pathophysiology and be able to diagnose small species in veterinary medicine in a timely fashion. To our knowledge, this is the first report of congenital intestinal stenosis and Hirschprung's disease in a newborn puppy.
Assuntos
Constrição Patológica/veterinária , Doença de Hirschsprung/veterinária , Intestinos/anormalidades , Animais , Animais Recém-Nascidos , Constrição Patológica/cirurgia , Cães , Feminino , Doença de Hirschsprung/diagnóstico , Imuno-Histoquímica/veterinária , Intestinos/cirurgiaRESUMO
Ileocolonic aganglionosis (ICA) is the congenital and hereditary absence of neurons that constitute the enteric nervous system and has been described in various species including humans - Hirschsprung's disease - and horses - overo lethal white syndrome (OLWS). Hirschsprung's disease affects circa 1 in 5,000 live births. At best, this disease means an inability to absorb nutrients from food (humans). At worse, in horses, it always means death. Despite our general understanding of the functional mechanisms underlying ICA, there is a paucity of reliable quantitative information about the structure of myenteric and submucosal neurons in healthy horses and there are no studies on horses with ICA. In light of these uncertainties, we have used design-based stereology to describe the 3-D structure - total number and true size - of myenteric and submucosal neurons in the ileum of ICA horses. Our study has shown that ICA affects all submucosal neurons and 99% of myenteric neurons. The remaining myenteric neurons (0.56%) atrophy immensely, i.e. 63.8%. We believe this study forms the basis for further research, assessing which subpopulation of myenteric neurons are affected by ileocolonic aganglionosis, and we would like to propose a new nomenclature to distinguish between a complete absence of neurons - aganglionosis - and a weaker form of the disease which we suggest naming 'hypoganglionosis'. Our results are a step forward in understanding this disease structurally.