Visceral myopathy: the importance of electronic microscopy in the diagnosis of rare diseases
Intestinal pseudo-obstruction syndrome in childhood is rare and its etiology is varied. Among the causes are degenerative alterations of the myenteric plexus (visceral neuropathies), the most representative being Hirschsprung's disease; intestinal neuronal dysplasia, which presents a norm...
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Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2022
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| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/39061 |
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I10-R327-article-39061 |
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Universidad Nacional de Córdoba |
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Revista de la Facultad de Ciencias Médicas de Córdoba |
| format |
Artículo revista |
| topic |
visceral myopathy vomiting electron microscopy miopatía visceral vómitos microscopía electrónica |
| spellingShingle |
visceral myopathy vomiting electron microscopy miopatía visceral vómitos microscopía electrónica Faure, EE García de Dávila, MT Mukdsi, JH Visceral myopathy: the importance of electronic microscopy in the diagnosis of rare diseases |
| topic_facet |
visceral myopathy vomiting electron microscopy miopatía visceral vómitos microscopía electrónica |
| author |
Faure, EE García de Dávila, MT Mukdsi, JH |
| author_facet |
Faure, EE García de Dávila, MT Mukdsi, JH |
| author_sort |
Faure, EE |
| title |
Visceral myopathy: the importance of electronic microscopy in the diagnosis of rare diseases |
| title_short |
Visceral myopathy: the importance of electronic microscopy in the diagnosis of rare diseases |
| title_full |
Visceral myopathy: the importance of electronic microscopy in the diagnosis of rare diseases |
| title_fullStr |
Visceral myopathy: the importance of electronic microscopy in the diagnosis of rare diseases |
| title_full_unstemmed |
Visceral myopathy: the importance of electronic microscopy in the diagnosis of rare diseases |
| title_sort |
visceral myopathy: the importance of electronic microscopy in the diagnosis of rare diseases |
| description |
Intestinal pseudo-obstruction syndrome in childhood is rare and its etiology is varied. Among the causes are degenerative alterations of the myenteric plexus (visceral neuropathies), the most representative being Hirschsprung's disease; intestinal neuronal dysplasia, which presents a normal number of neurons but with alterations in their development and, finally, visceral myopathies that represent the most common cause of primary intestinal pseudo-obstruction and in which the innervation is completely normal, presenting abnormalities smooth muscle that affect the entire wall of the digestive tract, and may be of interest to other organs, such as the urinary tract.
A 5-year-old male patient with episodes of abdominal distension, colic pain and vomiting of 3 years of evolution. With this picture of intestinal pseudo-obstruction, an abdominal tomography was performed that showed marked dilatation of the small intestine and colon. A rectal biopsy was performed, which at the light microscopy level showed alterations of the muscularis propria, characterized by degenerative changes in the inner layer of smooth muscle and cytoplasmic vacuolization, without evidence of inflammation or fibrosis. Ganglion cells of the myenteric and submucosal plexuses are visible, ruling out Hirschsprung's disease. A study of the seromuscular wall of the colon by transmission electron microscopy was requested. The ultrastructure showed the presence of cytoplasmic vacuoles, making the clinical and imaging findings compatible with Visceral Myopathy.
Visceral Myopathy, cause of intestinal pseudo-obstruction syndrome, is a condition characterized by the lack of development of the outer muscular layer of the entire digestive tract. In this pathology, transmission electron microscopy is a very important tool to arrive at its diagnosis, with cytoplasmic vacuolization being the most characteristic ultrastructural finding of this pathology. For this reason and due to the difficulty in establishing the diagnosis and, above all, the need to offer the patient an early and timely diagnosis, we decided to report this case.
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| publisher |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
| publishDate |
2022 |
| url |
https://revistas.unc.edu.ar/index.php/med/article/view/39061 |
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I10-R327-article-390612024-04-15T16:14:45Z Visceral myopathy: the importance of electronic microscopy in the diagnosis of rare diseases Miopatía visceral: la importancia de la microscopía electrónica en el diagnóstico de enfermedades poco frecuentes Faure, EE García de Dávila, MT Mukdsi, JH visceral myopathy vomiting electron microscopy miopatía visceral vómitos microscopía electrónica Intestinal pseudo-obstruction syndrome in childhood is rare and its etiology is varied. Among the causes are degenerative alterations of the myenteric plexus (visceral neuropathies), the most representative being Hirschsprung's disease; intestinal neuronal dysplasia, which presents a normal number of neurons but with alterations in their development and, finally, visceral myopathies that represent the most common cause of primary intestinal pseudo-obstruction and in which the innervation is completely normal, presenting abnormalities smooth muscle that affect the entire wall of the digestive tract, and may be of interest to other organs, such as the urinary tract. A 5-year-old male patient with episodes of abdominal distension, colic pain and vomiting of 3 years of evolution. With this picture of intestinal pseudo-obstruction, an abdominal tomography was performed that showed marked dilatation of the small intestine and colon. A rectal biopsy was performed, which at the light microscopy level showed alterations of the muscularis propria, characterized by degenerative changes in the inner layer of smooth muscle and cytoplasmic vacuolization, without evidence of inflammation or fibrosis. Ganglion cells of the myenteric and submucosal plexuses are visible, ruling out Hirschsprung's disease. A study of the seromuscular wall of the colon by transmission electron microscopy was requested. The ultrastructure showed the presence of cytoplasmic vacuoles, making the clinical and imaging findings compatible with Visceral Myopathy. Visceral Myopathy, cause of intestinal pseudo-obstruction syndrome, is a condition characterized by the lack of development of the outer muscular layer of the entire digestive tract. In this pathology, transmission electron microscopy is a very important tool to arrive at its diagnosis, with cytoplasmic vacuolization being the most characteristic ultrastructural finding of this pathology. For this reason and due to the difficulty in establishing the diagnosis and, above all, the need to offer the patient an early and timely diagnosis, we decided to report this case. EI síndrome de pseudo-obstrucción intestinal en la infancia es raro y su etiología variada. Dentro de las causas se encuentran las alteraciones degenerativas del plexo mioentérico (neuropatías viscerales), siendo la más representativa la Enfermedad de Hirschsprung; la displasia neuronal intestinal, que presenta un número normal de neuronas pero con alteraciones en su desarrollo y, por último, las miopatías viscerales que representan la causa más común de pseudo-obstrucción intestinal primaria y en las cuales la inervación es completamente normal, presentando anomalías del músculo liso que afectan la totalidad de la pared del tubo digestivo, pudiendo interesar otros órganos, como el tracto urinario. Paciente de sexo masculino de 5 años de edad con episodios de distensión abdominal, dolor cólico y vómitos de 3 años de evolución. Con este cuadro de pseudo-obstrucción intestinal, se realizó una tomografía de abdomen que demostró marcada dilatación de intestino delgado y colon. Se realizó una biopsia rectal, la que a nivel de la microscopía óptica demostró alteraciones de la muscular propia, caracterizadas por cambios degenerativos en la capa interna de músculo liso y vacuolización citoplasmática, sin evidencia de inflamación ni fibrosis. Células ganglionares de los plexos mioentérico y submucoso visibles, descartando Enfermedad de Hirschsprung. Se solicitó estudio de pared seromuscular de colon por microscopía electrónica de transmisión. La ultraestructura evidenció la presencia de vacuolas citoplasmáticas, compatibilizando los hallazgos clínicos e imagenológicos con Miopatía Visceral. La Miopatía Visceral, causa del síndrome de pseudo-obstrucción intestinal, es un padecimiento que se caracteriza por la falta de desarrollo de la capa muscular externa de todo el tubo digestivo. En esta patología la microscopía electrónica de transmisión es una herramienta de suma importancia para arribar a su diagnóstico, siendo la vacuolización citoplasmática el hallazgo ultraestructural más característico de esta patología. Es por esto y debido a la dificultad para establecer el diagnóstico y, sobre todo, a la necesidad de ofrecer al paciente un diagnóstico temprano y oportuno, que decidimos comunicar el presente caso. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2022-10-26 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion . https://revistas.unc.edu.ar/index.php/med/article/view/39061 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 79 No. Suplemento JIC XXIII (2022): Suplemento JIC XXIII Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 79 Núm. Suplemento JIC XXIII (2022): Suplemento JIC XXIII Revista da Faculdade de Ciências Médicas de Córdoba; v. 79 n. Suplemento JIC XXIII (2022): Suplemento JIC XXIII 1853-0605 0014-6722 http://creativecommons.org/licenses/by-nc/4.0 |