[Familial visceral myopathy].
We report a patient with intestinal pseudo-obstruction in which both the histopathological findings and the clinical history strongly suggest a visceral myopathy of familial type. Reviewing the clinicopathological descriptions of the different families appearing in the literature, is evident that both the presentation (severity, distribution of lesions, etc) and the inheritance pattern seem not to be clearly delimitated, and it has been recently suggested that it may be related to the mitochondrial myopathies. The useless of conventional biopsy procedures (due to the almost exclusive affectation of the external muscle layer of the intestinal wall); the frequently patchy distribution of the lesions (which might be overlooked in a routine histological handling of a resection specimen) and the extensive range of symptoms of the disease, support the paramount importance of a high index of suspicion (obviously, the clinical history plays a fundamental role). In this setting, it is also interesting to emphasize the utility of manometric studies for the correct diagnosis and management of these patients; as well their possible application to identify asymptomatic heterozygotes.
Giménez
A
A
Hospital Universitario Virgen de la Arrixaca, Murcia.
Piñero
A
A
Robles
R
R
Navarro
N
N
Martínez
L F
LF
Ortiz
M A
MA
Mínguez
M
M
Benages
A
A
Bermejo
J
J
Parrilla
P
P
D000293:Adolescent; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008297:Male; D011859:Radiography