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Motor Neuron Disease

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.

Small Cell Neuroendocrine Tumor of the Cervix – additional opinion

36-year-old otherwise healthy female presented with an atypical pap smear. Biopsy of cervix revealed poorly Differentiated Neuroendocrine Carcinoma. Immunohistochemical staining showed the cells positive for NSE, SYN, CHR, and 90% positive for Ki67 (proliferative index). The findings of the PET-FDG test showed pathological absorption of FDG as a primary tumor of the cervix, towards the left side of the body. Moreover, evidence is seen of nodal metastatic spread in the retroperitoneum and pelvis, mainly on the left.

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

Small Cell Neuroendocrine Tumor of the Cervix

36-year-old otherwise healthy female underwent routine tests that found atypical cells in Pap smear. Her cervix was biopsied, and found poorly differentiated neuroendocrine carcinoma. The findings of the PET-FDG test showed pathological absorption of FDG as a primary tumor of the cervix, towards the left side of the body. Moreover, evidence is seen of nodal metastatic spread in the retroperitoneum and pelvis. In the expert's opinion the patient has locally extensive small cell neuroendocrine carcinoma of the cervix with extensive pelvic and PA adenopathy.

Motor Neuron Disease – additional opinion

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.