RESUMO
Maturity-Onset Diabetes of the Young (MODY) type 4 or PDX1 -MODY is a rare form of monogenic diabetes caused by heterozygous variants in PDX1 . Pancreatic developmental anomalies related to PDX1 are reported only in neonatal diabetes cases. Here, we describe dorsal pancreatic agenesis in 2 patients with PDX1 -MODY. The proband presented with diabetes since 14 years of age and maintained regular glycemic control with low doses of basal insulin and detectable C-peptide levels after 38 years with diabetes. A diagnosis of MODY was suspected. Targeted next-generation sequencing identified a heterozygous variant in PDX1 : c.188delC/p.Pro63Argfs*60. Computed tomography revealed caudal pancreatic agenesis. Low fecal elastase indicated exocrine insufficiency. His son had impaired glucose tolerance, presented similar pancreatic agenesis, and harbored the same allelic variant. The unusual presentation in this Brazilian family enabled expansion upon a rare disease phenotype, demonstrating the possibility of detecting pancreatic malformation even in cases of PDX1 -related diabetes diagnosed after the first year of life. This finding can improve the management of MODY4 patients, leading to precocious investigation of pancreatic dysgenesis and exocrine dysfunction.
Assuntos
Anormalidades Congênitas/genética , Diabetes Mellitus Tipo 2/genética , Proteínas de Homeodomínio/genética , Pâncreas/anormalidades , Doenças Raras/genética , Transativadores/genética , Brasil , Peptídeo C/genética , Pré-Escolar , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/fisiopatologia , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/fisiopatologia , Intolerância à Glucose/genética , Intolerância à Glucose/fisiopatologia , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Pâncreas/fisiopatologia , Elastase Pancreática/genética , Fenótipo , Doenças Raras/diagnóstico , Doenças Raras/fisiopatologiaRESUMO
Objective: The purprose of this study is to present the team experience and the method efficacy in transnasal endoscopic approach of medial orbital blow out fracture using septum graft. Method: This approach was used in 14 patients with an isolated medial orbital wall fracture between June 2005 and June 2006. A computed tomographic scan was taken before and after surgery. The ocular motility and enophthalmos were checked before and after surgery. The endoscopic transnasal approach provided the appropriete surgical exposure in all cases. Patients were followed up for a mean of 8,2 months (range, 5-14 months) after repairing the orbital wall fracture. Hertel exophthalmometry was performed in all patients. Results: Hertel exophthalmometry showed that among 14 patients: 13 patients showed no enophthalmos. The enophthalmos ranged from 0.5-1 mm in 12 patients and 1.5 mm enphthalmos was noted in 2 patients. A clinically significant enophthalmos =2mm was not found postoperatively. Preoperatively, 2 (15%) patients had a diplopia in the primary position of the gaze and 12 (75%) patients had a diplopia within 30º of the gaze. Postoperatively, all patients had an orthotropia in the primary position but 1(7%) patient had a residual diplopia. Conclusion: The transnasal endoscopic approach using septal graft provides a minimally invasive, effective, and cosmetically pleasing surgical approach for managing an isolated medial wall fracture.
