RESUMEN
Hemochromatosis is a condition marked by excessive iron accumulation, causing dysfunction in various organs. A 50-year-old woman, previously in good health, reported abdominal pain and yellowing of the skin and eyes for one month. Upon examination, she exhibited widespread jaundice, leg swelling, and abdominal distention. Her total bilirubin level was 24.52 mg/dL at admission, indicating hyperbilirubinemia. Imaging studies, including USG and CT scans, revealed mild to moderate ascites and altered liver texture. Elevated serum ferritin (1443 ng/mL) and transferrin saturation (84%) suggested iron overload. A liver biopsy confirmed the presence of iron deposits in hepatocytes, leading to a diagnosis of hemochromatosis. Genetic testing was negative for the C282Y and H63D mutations, resulting in a diagnosis of non-homeostatic iron regulator (non-HFE) related hereditary hemochromatosis. The patient began weekly phlebotomy and was monitored regularly, with a liver transplant being considered as a potential treatment.
RESUMEN
Pheochromocytoma is a rare endocrine tumor originating from chromaffin cells of the adrenal medulla, which leads to the overproduction of catecholamines. Most symptoms, ranging from simple headaches to life-threatening cardiac arrests, are due to excess catecholamines. Usually, patients present with persistent or paroxysmal hypertension, headaches, sweating, and palpitations. Here, we describe a case that initially presented as an acute coronary syndrome and was treated accordingly. However, she had a history of nocturnal awakenings and panic attacks, which she had ignored for a month. On further evaluation, it turned out to be pheochromocytoma. This case report will surely help physicians better diagnose and treat such cases.
RESUMEN
Osmotic demyelinating disease of the central nervous system has two variants: central pontine myelinolysis and extra-pontine myelinolysis (EPM). Up to 10% of cases of osmotic demyelination syndrome are associated with EPM, which mostly affects the thalamus and basal ganglia. It is commonly associated with the rapid correction of hyponatremia. An elderly woman in her 60s presented with complaints of acute gastroenteritis and giddiness and visited the emergency ward. On examination, she was conscious and oriented to time but disoriented to place and person and had slurring of speech with signs of dehydration. Her serum sodium levels were 100 meq/L, and her brain MRI was normal. After shifting her to the intensive care unit, she was treated with 200 ml of 3% NaCl bolus to correct her hyponatremia. On day three, she began developing rigidity in both lower limbs, which progressed to the upper limbs with hyperreflexia and mutism. A brain MRI was done, which showed subtle hyperintensities in the caudate lobe with no other new findings. Her serum aldosterone and cortisol were on the lower side of the normal range. Treatment of tablet levodopa-carbidopa (100/25) combination thrice a day (TDS) led to an improvement in her health condition.