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PANCYTOPENIA OF UNKNOWN ETIOLOGY

74-year-old female evaluated for pancytopenia of unknown etiology, which required blood transfusions. Bone marrow aspirate and biopsy showed a hypocellular bone marrow with trilineage maturation. The treatment include immunosuppressive agents and erythropoietin.

PANCYTOPENIA OF UNKNOWN PATHOGENESIS

 74-year-old female evaluated for pancytopenia of unknown etiology, which required blood transfusions. Bone marrow aspirate and biopsy showed a hypocellular bone marrow with trilineage maturation. The treatment include immunosuppressive agents and erythropoietin.

 

Myelodysplastic syndrome (MDS), with kariotype del(11)q(11)

A 74 year-old male, that was diagnosed as suffering from myelodysplastic syndrome (MDS) with kariotype del(11)q(11) by a bone marrow biopsy, following a gradual pancytopenia. The patient complains about slowly progressive weakness and being constantly tired.He was offered chemotherapy, but he declined this treatment because of fear that it would worsen his already severe weakness.

Multiple Myeloma (MM) and Cardiomyopathy

51-year-old-male, complained of low back pain and has been diagnosed as having multiple myeloma (MM), light chain disease of the lambda type. His past medical history is remarkable for a cardiac disease. The expert believes it is cardiomyopathy, which can be amyloidotic (related to the MM) or hypertensive-atherosclerotic, or combined. The patient received anti-MM induction type of treatment (VTD combination), followed by high-dose cyclophosphamide (HDC) and autologous stem cell transplantation. The patient's low platelet count is of concern.

Thrombotic thrombocytopenic purpura (TTP) secondary to Systemic Lupus Erythematosus (SLE)

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.

MDS – Myelodysplastic Syndrome

74-year-old male with gradual pan-cytopenia with predominant thrombocytopenia underwent a bone marrow biopsy that confirmed the diagnosis of Myelodysplastic syndrome (MDS). He is currently in good general health except for slowly progressive weakness and being constantly tired. In the expert's opinion, there is no indication for therapy at this time, since the counts are satisfactory for every-day living. Nevertheless, the treating options are erythopoietin injections, lenalidomide, Vidaza or Dacogen therapy, or stem cell transplantation.

Portosystemic Encephalopathy in Hepatocellular Carcinoma

Adult male with a history of hepatitis C, non-Hodgkin’s lymphoma (NHL) and hepatocellular carcinoma. Patient treated for NHL with CHOP-R 4 years ago. However, post-treatment, he had continued presumed bone marrow suppression. He was diagnosed 2 years later with HCC and underwent TACE with good effect. Since the TACE, the patient has had persistent and worsening hepatic dysfunction with portal hypertension and ascites. Recently, the patient developed encephalopathy and was treated, as described below, with fast return to consciousness.

Massive Portal and Mesenteric Vein Thrombosis

47-year-old male presented with un-provoked portal and mesenteric vein thrombosis that caused persistent radiating pains of upper abdominal quadrants. The examinations found heterozygous factor II mutation, and family survey for the factor II mutation was recommended. The patient started anticoagulant therapy. In the expert's opinion, the main risk factors for portal vein thrombosis are: Prothrombotic disorder, abdominal inflammation, cirrhosis, cancer, abdominal intervention and abdominal infection.

Partial seizures in 4 years old girl

A 4 year old girl with normal birth history and development with the exception of an episode of maternal hemiplegia during pregnancy. There is no significant family history of any neurological issues. Her medical history is unremarkable except for celiac disease which is treated with a gluten-free diet.
An half a year ago she developed scarlet fever and began to have episodes of right hand tremor lasting 6 seconds with no alteration of consciousness. One month later she had more events and was taken to the local ED where an EEG was performed.

Cystic Pleuro-Pulmonary Blastoma

2-year-old female had been diagnosed with Pleuropulmonary Blastoma. The disease extent included the lung and pleura with no signs of metastatic spread. It was decided to start with 3 cycles of chemotherapy and afterwards to carry out a CT scan reassessment and surgical operation. The expert agrees that patients treated with combination of chemotherapy and complete surgical resection do better. Achieving total resection of the tumor results in a significantly better prognosis, whereas extrapulmonary involvement at diagnosis results in worse prognosis.

Cystic Pleuro-Pulmonary Blastoma – additional opinion

2-year-old girl was diagnosed with pleuropulmonary blastoma (PPB). She presented with cough and fever which was treated as pneumonia. When her symptoms did not improve, a chest X-ray showed a right lower lobe infiltrate with pleural effusion and a cystic lesion superiorly. She was further treated with antibiotics and improved clinically, but follow-up with chest CT showed a persistent cystic area in the right lower lobe and pneumothorax. She thus underwent pleural drainage and thoracoscopic biopsy, revealing a diagnosis of "cystic pleuropulmonary blastoma".

End Stage Renal Disease

54-year-old obese male with end stage renal disease due to membranous nephropathy, has received 2 renal transplants in the past and is highly sensitized. He underwent coronary angiography for vessel CAD, and PTCAs and stanting were performed. His current treatment consists of multiple medications including mycophylate according to the instructions of his transplant nephrologist. His cardiologists sees no contraindication to transplantation.

Neuroroendocrine neoplasia with hepatic secondary lesions_2

39-year-old male was diagnosed to have a neuroendocrine tumour with synchronic liver metastases. The disease was treated with an etoposide-carboplatin combination, Interferon A, somatostatin analogue and Zebra fish egg derived dietary supplements. In early 2008, a tumour progression was noted in that the disease started to produce the epithelial tumour markers CEA and CA 19-9.

Motor Neuron Disease – another opinion

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

Pancytopenia of uncertain pathogenesis

74-year-old female evaluated for pancytopenia of unknown etiology, which required blood transfusions. Bone marrow aspirate and biopsy showed a hypocellular bone marrow with trilineage maturation. The treatment include immunosuppressive agents and erythropoietin.

Chronic relapsing, non progressing eruption of purpuric papulovesicular lesions

A 57 year old female complained about appearance of red to dark red pruritic bullous lesions . These lesions were, and still are, located on the legs from the knee to the ankles, and on the back of the feet. These manifestations appeared in variable phases during the next 4 years, with episodes of more numerous pustules appearing in some periods, and more isolated in other periods.

Stage 4 Neuroblastoma – additional opinion

1.5-year-old male suffered from eye swelling. His MRI revealed expansive lesion of left lateral orbital wall origin, with compression on the lateral rectus muscle. Later he was hospitalized due to fever and vomiting in left orbital lesion, suspecting a metastatic neuroblastoma. His eye examination revealed exophthalmus of the eye with exophoria and light dysfunction of the lateral rectus. His biopsies were indicative of stroma-poor neuroblastoma.

Stage 4 Neuroblastoma

1.5-year-old male suffered from eye swelling. His MRI revealed expansive lesion of left lateral orbital wall origin, with compression on the lateral rectus muscle. Later he was hospitalized due to fever and vomiting in left orbital lesion, suspecting a metastatic neuroblastoma. His eye examination revealed exophthalmus of the eye with exophoria and light dysfunction of the lateral rectus. His biopsies were indicative of stroma-poor neuroblastoma.