FAMILIAL VISCERAL MYOPATHY

We report a patient with intestinal pseudo-obstruction in which both t he histopathological findings and the clinical history strongly sugges t a visceral myopathy of familial type. Reviewing the clinicopathologi cal descriptions of the different families appearing in the Literature , is evident that both the presentation (severity, distribution of les ions, etc) and the inheritance pattern seem not to be clearly delimita ted, and it has been recently suggested that it may be related to the mitochondrial myopaties. The useless of conventional biopsy procedures (due to the almost exclusive afectation of the external muscle layer of the intestinal wall); the frequently patchy distribution of the les ions (which might be overlooked in a rutine histological handling of a resection specimen) and the extensive range of symptoms of the diseas e, support the paramount importance of a high index of suspicion (obvi ously, the clinical history plays a fundamental role). In this setting , it is also interesting to emphasize the utility of manometric studie s for the correct diagnosis and management of these patients; as well their possible application to identify asymptomatic heterozygotes.