RESUMO

BACKGROUND Osteogenesis imperfecta is a skeletal disease with a range of phenotypes, depending on the genetic mutation. Individuals with osteogenesis imperfecta type I often have mutations in COL1A genes. This disease can be associated with chest wall deformities such as pectus excavatum, but the number of patients with this presentation is limited, and genetic variants associated with this phenotype have not been reported. CASE REPORT We studied the Skeletal Disorders Genetic Panel of 2 siblings with osteogenesis imperfecta type I and severe pectus excavatum requiring surgical correction. Both had severe respiratory symptoms secondary to the chest wall deformity, and the male patient had evidence of mitral valve insufficiency on an echocardiogram. Results of the genetic panel were remarkable for a homozygous copy number gain in exons 2 to 51 in gene COL1A1. Additionally, both had a heterozygous pathogenic variant in exon 7 of gene COL27A1 (replacement of a glycine with arginine in codon 697 of the protein). CONCLUSIONS Gene COL27A1 plays a role during the calcification of cartilage to bone and is associated with Steel syndrome, a skeletal disorder mainly found in the Puerto Rican population. Heterozygous carriers of the p.Gly697Arg variant in COL27A1 have not been described to have a phenotype with chest wall deformities. Additionally, a genotype-phenotype relationship regarding pectus excavatum in patients with osteogenesis imperfecta has not been described, suggesting that having COL1A gene mutations and simultaneous haploinsufficiency of COL27A1 can result in a phenotype of osteogenesis imperfecta with pectus excavatum and predispose these patients to additional phenotypic features.

Assuntos

Tórax em Funil , Osteogênese Imperfeita , Colágeno Tipo I/genética , Cadeia alfa 1 do Colágeno Tipo I , Colágenos Fibrilares/genética , Tórax em Funil/genética , Humanos , Masculino , Mutação , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/genética , Fenótipo , Irmãos

RESUMO

Parathyroidectomy is the only cure for primary hyperparathyroidism and is effective in more than 95% of cases at initial surgical intervention. However, 2.5-5% of cases have recurrent or persistent disease. Pre-operative imaging is recommended in patients undergoing redo parathyroidectomy to localize the diseased gland. Parathyroid 4D CT scan is now widely used for localization and has been reported to have improved accuracy when compared to other imaging modalities. We conducted a retrospective study of all redo parathyroidectomies from 2017 to 2021 at a single tertiary parathyroid referral center. We evaluated pre-operative 4D CT scan results and compared them to intra-operative findings to determine if 4D CT scan correctly predicted the location of the diseased gland. 4D CT scan had a concordance of 87% with intra-operative findings. 4D CT scan is highly effective identifying parathyroid pathology in re-operative cases and can be used as a pre-operative tool to guide surgical management.

Assuntos

Hiperparatireoidismo Primário , Neoplasias das Paratireoides , Tomografia Computadorizada Quadridimensional/métodos , Humanos , Hiperparatireoidismo Primário/diagnóstico por imagem , Hiperparatireoidismo Primário/patologia , Hiperparatireoidismo Primário/cirurgia , Glândulas Paratireoides/diagnóstico por imagem , Glândulas Paratireoides/cirurgia , Hormônio Paratireóideo , Neoplasias das Paratireoides/diagnóstico por imagem , Neoplasias das Paratireoides/patologia , Neoplasias das Paratireoides/cirurgia , Paratireoidectomia/métodos , Estudos Retrospectivos , Tecnécio Tc 99m Sestamibi

RESUMO

Gastric schwannomas are rare peripheral nerve sheath tumors which are usually found incidentally while undergoing workup for other conditions. Despite their benign nature, they require surgical resection with negative margins. It is important to differentiate gastric schwannomas from gastrointestinal stromal tumors prior to surgical excision, as this can alter the recommended surgical plan. This can be achieved with endoscopic ultrasound and fine needle aspiration with analysis of the sampled tissue using immunohistochemical stains. We present the case of a 68-year-old female patient with an incidental finding of a gastric fundus schwannoma. Laparoscopic gastric wedge resection was performed with complete excision of the tumor and negative margins. Pathology was confirmed with immunohistochemical stains positive for S-100 and negative for CD117 and DOG1. Post-operative recovery was uneventful without tumor recurrence.