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.
57-year-old male who was found to have back pain and hyperglobulinemia approximately. Marrow biopsy was consistent with IgG myeloma. He was treated with steroids and local radiotherapy with improvement in symptoms and a modest reduction in the M-component. He received melphalan-based autologous stem cell transplantation, which was complicated by reversible respiratory failure. Unfortunately, he relapsed and was treated with bortezomib and steroids for 6 cycles followed by thalidomide. The disease has responded to therapy.
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.
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
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.
71-year-old female developed progressive dysarthria and dysphagia. She underwent multiple investigations and started Rilutek. Her EMG study does not meet published criteria for the electrophysiologic diagnosis of motor neuron disease. In the expert's opinion, a definite diagnosis is not possible at the present time, and there would be utility in repeating clinical and electrophysiologic testing. The expert also recommends to perform pulmonary function testing.
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.
Patient with clinical and laboratory picture compatible with acute infectious mononucleosis with Epstein-Barr Virus (EBV) receives from the expert wide information regarding the virus, the symptoms and clinical course, the needed follow-up tests etc.
71-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. The differential diagnosis of isolated swallowing and speaking difficulties include: Early motor neuron disease, Cranial neuropathies, Myopathies, Neuromuscular junction disorders and Neurodegenerative movement disorders.
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.
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.
21-year-old female with an acute onset of a unilateral sixth cranial nerve deficit. Brain MRI showed at least a dozen white matter lesions, one of them contrast-enhancing. Sensory evoked potentials showed a bilateral increase in latency. Multiple sclerosis was diagnosed, and the patient was treated by corticosteroids, followed by improvement of symptoms. The first follow-up revealed no focal neurological signs with a history of a transitory unilateral lower limb hyposthenia. On the second visit, a horizonto-rotatory nystagmus and irregular paraesthesia in the right toes are documented.
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.
1-month-old female with Microtia of the right ear, which is a single finding and not part of a syndrome. Hearing test is recommended.
51-year-old male with past medical history that is remarkable for Sino-nasal adenocarcinoma which was resected 13 years ago, and a recurrent local tumor which was re-operated. Since late 2007, the patient has been noticed to have mild macrocytic anemia and leucopenia, and the hematologist thought it might represent a myelodysplastic syndrome.
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.
45-year-old male who presented with acute onset of flaccid paraparesis more pronounced on the left, sensation of current shocks in both legs and sensory level from the umbilicus downwards. The symptoms have reached their pick within less than a day. On examination the left lower limb was plegic and the right lower limb was partially weak. EMG was interpreted as demyelinating sensorimotor neuropathy. MRI showed hyperintense signals at the dorsal terminal segment of the marrow consistent with myelitis.
42-year-old patient with hypothyroidism (Hashimoto's) with a history of primary recurrent abortions, probably due to a uterine septum. She underwent 2 IVF cycle, the 2nd – with poor response. The expert suggests some diagnostic and therapeutic strategies.
Female patient suffered an episode of sudden shooting pains in her hands while swimming. Since this episode, there has been a progressive improvement. However, the patient still suffers from hypersensitivity in her arms, together with hyperesthesia manifesting predominantly in her hands. For 3 years, the patient has suffered from paresthesia and burning sensations in her arms. Her MRI found marked degenerative differences with spinal narrowing and protruding discs causing pressure on the spinal cord. Spinal cord irregularities found at C5-C6 level.
21-year-old female with an acute onset of a unilateral sixth cranial nerve deficit. Brain MRI showed at least a dozen white matter lesions, one of them contrast-enhancing. Sensory evoked potentials showed a bilateral increase in latency. Multiple sclerosis was diagnosed, and the patient was treated by corticosteroids, followed by improvement of symptoms. The first follow-up revealed no focal neurological signs with a history of a transitory unilateral lower limb hyposthenia. On the second visit, a horizonto-rotatory nystagmus and irregular paraesthesia in the right toes are documented.
21 years old female who provided us medical report of her endocrinological examination with diagnosis of “Basedow’s Hyperthyroidism in autoimmune non-nodular thyroid (Hashimoto’s thyroiditis). Under therapy with Tapazole at the dosage of 2 tablets daily with FT3 and FT4 values within normal limits and TSH=0.00” . In the light of such values and of the clinical picture, the specialist confirmed the current therapy with Tapazole (2 tablets daily) suggesting therapeutic dosage of 131 Iodine after examination at nuclear medicine department.
78-year-old female with history of diabetes, and meningioma complicated by neurologic deficits following surgery, was diagnosed with progressive iodine-refractory metastatic papillary thyroid carcinoma (PTC). Her initial work-up revealed lung metastasis. She underwent a right thyroidectomy and then left thyroidectomy and laryngectomy, and subsequently received I-131 on 8 occasions. She had a drop in thyroglobulin levels to the early treatments, but most recently, thyroglobulin has steadily increased.
