ABSTRACT
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.
Subject(s)
Autism Spectrum Disorder , Muscular Dystrophies, Limb-Girdle , Male , Humans , Child, Preschool , Autism Spectrum Disorder/genetics , Muscular Dystrophies, Limb-Girdle/genetics , Patients , Atrophy , Muscle WeaknessABSTRACT
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.
Subject(s)
Aortic Aneurysm , Connective Tissue Diseases , Fragile X Syndrome , Marfan Syndrome , Mitral Valve Prolapse , Aortic Aneurysm/diagnostic imaging , Aortic Aneurysm/genetics , Connective Tissue Diseases/genetics , Elastin , Fragile X Syndrome/complications , Fragile X Syndrome/genetics , Humans , Marfan Syndrome/complications , Marfan Syndrome/genetics , Mitral Valve Prolapse/geneticsABSTRACT
BACKGROUND: One-stage direct-to-implant post-mastectomy breast reconstruction has been gaining popularity over the traditional two-stage/tissue-expander approach. OBJECTIVES: To evaluate the outcome of the two post-mastectomy breast reconstruction procedures in terms of patient satisfaction. METHODS: Clinical data were collected by file review for patients who underwent mastectomy with immediate breast reconstruction at two tertiary medical centers in 2010-2013. Patients were asked to complete the BREAST-Q instrument, sent to them by post with a self-addressed, stamped, return envelope. Scores were compared by type of reconstruction performed. RESULTS: Of the 92 patients who received the questionnaire, 59 responded: 39 had one-stage breast reconstruction and 20 underwent two-stage reconstruction. The two-stage reconstruction group was significantly older, had more background diseases, and were followed for a longer period. The one-stage reconstruction group had a higher proportion of BRCA mutation carriers. There was no significant between-group difference in postoperative complications. Mean BREAST-Q scores were similar in the two groups for all dimensions except satisfaction with information, which was higher in the patients after one-stage reconstruction. Women with more background diseases had better sexual well-being, and married women had better psychological well-being. Breast satisfaction was lower among patients treated with radiation and higher among patients with bilateral reconstruction; the latter subgroup also had higher physical well-being. Complications did not affect satisfaction. CONCLUSIONS: Patients were equally satisfied with the outcome of one- and two-stage breast reconstruction. The choice of technique should be made on a case-by-case basis. Cost analyses are needed to construct a decision-making algorithm.
