ABSTRACT
Protein C deficiency increases the risk of an individual to develop thromboembolism and its complications. Clinical presentation of the complication of thrombosis in an unusual site may becloud clinical judgment resulting in missed diagnosis. We present an unusual case of protein C deficiency presenting with symptoms referable to the gastrointestinal system. A 34-year-old male with recurrent abdominal discomfort and bloating, managed as a case of gastro-oesophageal reflux disease with poor clinical outcome. Physical examination was unremarkable. Upper gastrointestinal endoscopy showed varices. Abdominal ultrasound scan and CT scan of the abdomen revealed thrombus in the portal vein. Functional assays of protein C and S revealed reduce protein C activity at 65 % (70 - 140%). This case emphasizes the need for extensive investigations in patients with common, sometimes neglected abdominal symptom such as bloating. It has also contributed in expanding the differential diagnosis of bloating and manifestations of protein C deficiency.
Une carence en protéine C augmente le risque pour un individu de développer une thromboembolie et ses complications. La présentation clinique de la complication de la thrombose dans un site inhabituel peut brouiller le jugement clinique entraînant un diagnostic manqué. Nous présentons un cas inhabituel de carence en protéine C présentant des symptômes liés au système gastro-intestinal Un homme de 34 ans avec une gêne abdominale récurrente et des ballonnements, pris en charge comme un cas de reflux gastro-Åsophagien avec un mauvais résultat clinique. L'examen physique n'était pas remarquable. L'endoscopie gastro-intestinale haute a montré des varices. Une échographie abdominale et une tomodensitométrie de l'abdomen ont révélé un thrombus dans la veine porte. Les dosages fonctionnels des protéines C et S ont révélé une réduction de l'activité de la protéine C à 65% (70 à 140%). Ce cas souligne la nécessité d'investigations approfondies chez les patients présentant des symptômes abdominaux courants, parfois négligés, tels que des ballonnements. Il a également contribué à élargir le diagnostic différentiel des ballonnements et des manifestations de carence en protéine C.
Subject(s)
Liver Diseases , Protein C Deficiency , Thrombosis , Venous Thrombosis , Adult , Humans , Male , Portal Vein/diagnostic imaging , Protein C Deficiency/complications , Protein C Deficiency/diagnosis , Venous Thrombosis/diagnostic imaging , Venous Thrombosis/etiologyABSTRACT
Background: Brain arteriovenous malformations (BAVM) are a cause of intracerebral haemorrhage (ICH) and seizures especially in young patients. ICH due to BAVMs seem to have relatively better neurologic outcomes compared to other causes of spontaneous ICH as patients often recover fully. In this report we highlight a case of delayed diagnosis of BAVM in a young man who presented with seizures and stroke. Case summary: A 36-year-old man was referred on account of focal, secondarily generalized tonic clonic convulsions. He had suffered a right ICH 3 years before the index presentation. His general physical and neurologic examination were normal. Electroencephalography revealed right sided focal epileptiform discharges and brain MRI revealed a right parieto-occipital AVM. The seizures were controlled with carbamazepine and he was referred for neurosurgical evaluation. Conclusion: BAVMs are an important cause of intracerebral haemorrhage and attendant neurologic morbidity especially in young individuals. Neuroimaging plays a central role in BAVM diagnosis and MRI is of great value where facilities and expertise for conventional angiography do not exist. In some instances, delayed presentation of BAVM cases may be due to relatively better neurologic outcomes in BAVM-related ICH.
