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 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.
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.
74-year-old male has suffered over six months from pancytopenia. The main problem has been the symptomatic anemia, which required blood transfusions. Bone marrow aspiration revealed some myelodysplasia, and immune therapy has been prescribed. The expert suggests possible differential diagnosis of pancytopenia and recommends to establish a definite diagnosis before discussing treatment.
27-year-old female with a diagnosis of suspected fibromyalgia. Her history includes long standing widespread musculo – skeletal pain connected to a feeling of general slight illness, as well as a series of accompanying symptoms: frequent migraines, cervicalgia, stomach disorders, chest pain and tachycardia . Therefore, she has carried out various follow-ups that each time detected a different problem for which the relevant therapy was set out.
A 43 years old woman man who presented with various symptoms consisting of visual disturbances, burning sensation in the eyes, headache, hypersensitivity to noise and dizziness. Repeated neurological examinations were reported normal. A thorough neurological work-up that included blood tests, brain MRI, EEG and echocardiography was normal.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
