Faculty Bibliography

Limb-girdle muscular dystrophies are a group of genetic disorders classically manifesting with progressive proximal muscle weakness. Affected individuals present with atrophy and weakness of the muscles of the shoulders and hips, and in some cases, intellectual disability or developmental delay has also been reported. Limb-girdle muscular dystrophy-3 is a recessive disorder caused by biallelic variants in the SGCA gene. Similarly, symptoms include proximal muscle weakness, elevated CPK, calf muscle pseudohypertrophy, and mobility issues. Cardiac symptoms and respiratory insufficiency are also common symptoms. This case report details a 3-year-old male with muscular weakness, elevated CK, and a neurodevelopmental disorder in whom a homozygous missense variant in c.229C>T (p.Arg77Cys) associated with limb-girdle muscular dystrophy-3 was found. This report shows the association between SGCA c.229C>T and neurodevelopmental disorders as observed in other muscular dystrophies.

Fragile X syndrome (FXS) is an inherited genetic condition that is the leading known cause of inherited intellectual developmental disability. Phenotypically, individuals with FXS also present with distinct physical features including, elongated face, prominent ears, pectus excavatum, macroorchidism, and joint laxity, which suggests connective tissue dysplasia. In addition to mitral valve prolapse, aortic dilatation has been identified within individuals with FXS. Abnormal elastin fiber networks have been found in the skin, valves, and aorta in individual cases. Aortic dilatation has been described in other connective tissue disorders, particularly Marfan syndrome. However, while aortic aneurysms are characteristic of Marfan syndrome, no similar cases have been reported in FXS patients to date. This case report details the presentation of two patients with FXS and aortic aneurysm. Our two cases highlight the risks of aortic pathology in FXS, and the need for monitoring in asymptomatic patients with significant aortic dilatation.

The longitudinal muscle in the large intestine in humans and some other mammalian species is concentrated in regions known as "tenia coli." The myenteric plexus under the tenia is believed to be highly developed to control the adjacent large muscle mass, however, data on the innervation of this region are very scarce. We used whole mount preparations of human colon to characterize the organization of the myenteric plexus under the tenia coli (UT) and compared it with the plexus between the tenia (BT). Using histochemical staining for NADPH diaphorase, we found that the meshwork UT was 50% denser than BT, and that the ganglia UT were 30% wider. The density and size of the NADPH-d positive neurons UT were similar to those of BT. We conclude that the myenteric plexus UT is considerably more developed than BT, and suggest to understand the control of colonic motility, the myenteric plexus UT needs to be further investigated.