RESUMEN
Trichohepatoenteric syndrome (THES), also known as phenotypic diarrhea or syndromic diarrhea, is a rare autosomal recessive genetic disorder caused by mutations in SKIC2 (THES-type 2) or SKIC3 (THES-type 1) and is characterized by early onset diarrhea, woolly brittle hair, facial dysmorphic features and liver disease. We report the case of a 24-month-old girl who presented with chronic diarrhea since the neonatal period along with intrauterine growth restriction (IUGR), developmental delay, dysmorphic features, congenital heart defects, liver disease, and recurrent infections. The diagnosis was made through whole-exome sequencing analysis, which detected a homozygous variant (c.4070del, p.Pro1357Leufs*10) in the SKIC3 gene. The patient required parenteral nutrition and was hospitalized for the first 10 months of life and then discharged on PN after showing improvement. She remained stable on PN after discharge despite a few admissions for central line infections. Recent follow-up at the age of 2 years revealed that she was stable on long-term parenteral nutrition and that she had advanced chronic liver disease.
Asunto(s)
Diarrea , Enfermedades del Cabello , Homocigoto , Humanos , Femenino , Diarrea/genética , Enfermedades del Cabello/genética , Enfermedades del Cabello/diagnóstico , Preescolar , Diarrea Infantil/genética , Mutación , Nutrición Parenteral , Hepatopatías/genética , Hepatopatías/diagnóstico , Secuenciación del Exoma , Retardo del Crecimiento Fetal/genética , ADN Helicasas , FaciesRESUMEN
Introduction: Pancreatic cancer is a deadly type of cancer with few symptoms until metastasis. It poses a high risk of cancer-associated thrombosis. Case presentation: A 73-year-old male presented with fatigue, shortness of breath, weight loss since 9 months, and blood clots recently in his legs. Chest radiography revealed fluid accumulation in pleural and pericardial cavities. Later, a fluid examination revealed the presence of malignant cells in the pericardial fluid. After immunological tests and an upper gastrointestinal endoscopy were performed, a pancreatic tumour was suspected. The patient was administered anticoagulant treatment and palliative care, which resulted in improvement after one month. Discussion: Pancreatic adenocarcinoma is a highly aggressive cancer with a strong tendency to metastasize, leading to pericardial and pleural effusion, thrombophlebitis, and poor prognosis. Conclusion: This case indicates that venous thrombosis, pleural and pericardial effusions could be symptoms related to a pancreatic tumour.