RESUMO
OBJECTIVES: To report the intermediate-term outcome following surgical intervention for median arcuate ligament syndrome (MALS) in adolescents and young adults with orthostatic intolerance (OI) to assess clinical improvement in the gastrointestinal and 5 other functional domains and if relief of arterial obstruction is associated with resolution of clinical symptoms. STUDY DESIGN: Thirty-one patients were given 2 dysautonomia-designed questionnaires to assess changes in symptoms following operative intervention in 6 functional domains and underwent postoperative repeat abdominal ultrasound examinations. RESULTS: Average follow-up after surgery was 22.4 ± 14.8 months. Self-assessed quality of health on a Likert scale (1-10 with 10 being normal) improved from 4.5 ± 2.1 preoperatively to 5.3 ± 2.4 postoperatively (P = not significant). Gastrointestinal symptoms of abdominal pain, nausea, and vomiting improved in 63% (P = .007), 53% (P = .040), and 62% (P = .014) of patients, respectively. Cardiovascular symptoms of dizziness, syncope, chest pain, and palpitations improved in 45% (P = not significant), 50% (P = not significant), 54% (P = .043), and 54% (P = .037) of patients, respectively. Transabdominal ultrasound peak supine expiratory velocity decreased from 348 ± 105 cm/s preoperatively to 251 ± 109 cm/s at 6 months or more after a ligament release procedure. Decrease of the postoperative celiac artery Doppler velocity was not associated with an improvement in gastrointestinal symptoms (P = .075). CONCLUSIONS: Adolescent and young adult patients with median arcuate ligament syndrome and OI have a good response to surgical intervention. About two-thirds of patients report significant improvement in symptoms of abdominal pain, nausea, and vomiting. Despite these encouraging data, many patients with MALS and OI continue to have an impaired quality of health.
Assuntos
Síndrome do Ligamento Arqueado Mediano/cirurgia , Intolerância Ortostática/cirurgia , Adolescente , Feminino , Humanos , Masculino , Síndrome do Ligamento Arqueado Mediano/complicações , Intolerância Ortostática/complicações , Síndrome da Taquicardia Postural Ortostática/complicações , Síndrome da Taquicardia Postural Ortostática/cirurgia , Estudos Prospectivos , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism mostly causing multisystem disease. In 2013, biallelic mutations in the GMPPA gene were described in association with one such CDG known as alacrima, achalasia, and mental retardation syndrome (AAMR). To date, 18 patients have been reported, nearly all displaying the same pathognomonic triad of symptoms described in the name. This condition shares considerable phenotypic overlap with Triple-A syndrome caused by biallelic mutations in the AAAS gene; however, AAMR lacks the characteristic adrenocortical findings associated with Triple-A syndrome. We report three patients from two unrelated families with the same homozygous GMPPA mutation (c.265dup, p.L89fs). Notably, both families reported indigenous Maya-Mam heritage and originated from the town of Concepción Chiquirichapa in Quezaltenango, Guatemala. Our cases help to expand the AAMR phenotype by outlining dysmorphic features not well described in the prior cases. Additionally, we encourage all providers with patients presenting with this unique triad of symptoms to consider sequencing of the GMPPA gene. Special consideration should be given to families of Guatemalan Maya-Mam ancestry who may also have this identified founder mutation. Finally, this condition may indeed be underdiagnosed based on a review of the literature.