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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 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.

Chronic Lymphocytic Thyroiditis (Hashimoto thyroiditis)

40 years old patient with clinical history that is consistent with Hashimoto’s thyroiditis. After an attempt to replace thyroid function with thyroid hormone in pills (Eutirox), the patient had reported multiple symptoms which might be suggestive for adverse side effects of Eutirox (double vision, tachycardia, disturbance of sleep, outbursts of anger). The patient consulted her family doctor and decided to reduce the dose of Eutirox.

 

Symptomatic Pancytopenia

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.

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.

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.

Visual disturbances of unknown etiology

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.
 

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.

Symptomatic Pancytopenia- Additional opinion

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.

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.

Guillain-Barré Syndrome / Acute Myeloradiculoneuritis

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.

Mild Alzheimer’s disease – additional opinion

78-year-old male was diagnosed with possible mild Alzheimer’s disease. Medical history suggests a condition running a slow but steadily deteriorating course characterized by apathy as well as by impairment of memory, word finding difficulties and reduced vocabulary, impaired ability to make calculation and handle finances and difficulties in managing house work and going outside unsupervised. An episode with characteristics of delirium in the past is described as well. The neuropsychological evaluation describes moderate dementia.

Renal Cell Carcinoma

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.