RESUMEN
Coronary heart disease and its complications remain the most common cause of morbidity and mortality throughout the world. In addition, its incidence among adults <45 years of age has also been steadily increasing in the past few decades. Besides the typical aetiology such as coronary artery abnormalities or autoimmune disorders, increasing rates can be attributed to escalating trends of obesity, type 2 diabetes mellitus, and illicit abuse of drugs such as cocaine and amphetamines in the younger population.1 Every cardiovascular event in a young adult must be thoroughly investigated as the aetiology is typically unconventional. Our case reports a young man who developed an acute inferior wall myocardial infarction (IWMI) in the setting of hyperhomocysteinaemia secondary to vitamin B12-folate deficiency itself due to tropical sprue.
Asunto(s)
Cocaína , Diabetes Mellitus Tipo 2 , Infarto del Miocardio , Esprue Tropical , Humanos , Masculino , Adulto Joven , Anfetaminas , Ácido Fólico , Infarto del Miocardio/complicaciones , Infarto del Miocardio/etiología , Esprue Tropical/complicaciones , Vitamina B 12Asunto(s)
Enfermedad de Graves , Hipertiroidismo , Neoplasias de la Tiroides , Nódulo Tiroideo , HumanosRESUMEN
Adrenoleukodystrophy (ALD) is an X linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome, that affects 1 in 20 000 people. In X linked adrenoleukodystrophy (X-ALD), a defect in lignoceroyl-coenzyme A ligase causes pathognomonic tissue accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex and nervous system. The phenotypic variability ranges from cerebral inflammatory demyelination of childhood onset, leading to death within 5 years, to adults remaining presymptomatic through more than five decades. Our case is that of a man who was previously diagnosed with bipolar affective disorder presented with dystonic posturing. During transit, he had an episode of generalised convulsive status epilepticus. He presented with spasticity and exaggerated reflexes. Three important signs of adrenal insufficiency were observed: hypotension, hyperpigmentation and comatose state. The diagnosis of X-ALD should be considered in young men presenting with gradually progressive unexplained cognitive and behavioural problems, a strong family history, adrenal insufficiency, bilateral upper motor signs with absent ankle reflexes.
Asunto(s)
Adrenoleucodistrofia , Hiperpigmentación , Trastornos Psicóticos , Estado Epiléptico , Adrenoleucodistrofia/complicaciones , Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/genética , Adulto , Ácidos Grasos , Humanos , MasculinoRESUMEN
A 63-year-old diabetic woman presented to the outpatient clinic with a 1-week history of abdominal pain. On complete evaluation, she was diagnosed to have essential thrombocythemia. Abdominal imaging revealed portal vein thrombosis with a large splenic infarct. The patient was started on anticoagulant, antiplatelet and cytoreductive therapy. In view of persistent high platelet count, plasma apheresis was done, following which the patient's platelet counts were reduced. Essential thrombocythemia has a high rate of complications, resulting in significant morbidity and mortality. Few cases of this disease and its treatment have been described in the literature, especially pertaining to the Indian scenario. Further studies are needed to establish a multidisciplinary algorithm for its diagnosis and to elucidate the guidelines for the successful treatment of the condition.