53-year-old male complained of right flank discomfort. Scans revealed solid lesion with necrotic content in the left kidney, and radical nephrectomy with ipsilateral para-aortic lymph node dissection was performed. Pathology diagnosis was a clear cell renal carcinoma. The experts recommends a close routine follow up together with routine opthalmoscopy in order to detect retinal angiomas that can be an affect of VHL gene mutation.
70-year-old female with a history of diabetes mellitus began experiencing pain in the legs. In the last few months the pain localized in her inner thighs. It is burning in nature, with sudden intense attacks, and is consistent with neuropathic pain with neuralgic features. The expert suggests possible diagnosis, further investigation and symptomatic treatment. In his opinion, it is likely that the cause of the symptoms is peripheral neuropathy or radiculopathy.
74-year-old male suffers from pancytopenia and symptomatic anemia. Bone marrow aspiration revealed some myelodysplasia, and the patient started immune therapy. He continues to require repeated blood transfusions. The expert recommends to complete the diagnostic workup. If no other disease is diagnosed than it can be assumed that the patient carries the diagnosis of MDS hypoplastic type.
72-year-old female developed progressive dysarthria and dysphagia. Her doctor describes her speech difficulty as “Spastic dysarthria with slow and nasal speech" and noticed decreased mobility in the tongue and palate. She underwent multiple investigations and started Rilutek. Since there is no biologic marker for ALS, the expert suggests further testing that is focused on trying to rule out other disorders and show diffuse lower motor neuron involvement
15 years old patient presented with clinical syndrome of fever, fatigue, and diarrhea. Laboratory findings showed severe anemia with findings of microangiopathic hemolysis (schistocytes, hyperbilirubinemia, elevated LDH) and severe thrombocytopenia. He was later documented to have fluctuating ADAMTS13 activity that appeared to correlate with the hematologic abnormalities. He also had urinary findings of hematuria, moderate proteinuria, and creatinine as high as 1.4 mg/dL.