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Axonal and Demyelinative Sensorimotor Neuropathy

66-year-old male with a 6-year history of sensory symptoms in the feet and hands. He describes a sensation of cold and stinging in the feet; and numbness in the hands, especially at night. Nerve conduction and EMG demonstrated axonal and demyelinative sensorimotor neuropathy with neurogenic changes in muscles. Follow-up nerve conduction testing that was performed 2 years later showed similar findings.

Neuropathic Pain with Neuralgic Features

70-year-old female with a history of diabetes mellitus began experiencing pain in the legs. In the last few months the pain localized in her inner thighs. It is burning in nature, with sudden intense attacks, and is consistent with neuropathic pain with neuralgic features. The expert suggests possible diagnosis, further investigation and symptomatic treatment. In his opinion, it is likely that the cause of the symptoms is peripheral neuropathy or radiculopathy.

Optic Neuropathy

Child with progressive exotropia secondary to the profound vision loss that appears to be to an optic neuropathy. The expert recommends to obtain additional studies in order to exclude potential diagnosis such as glioma, pathological disc edema, optic nerve drusen or dominant optic atrophy OPA-1 gene related.

Motor Neuropathy – additional opinion

53-year-old male with lower motor neuropathy affecting all 4 limbs. The neurologic examination showed left limb hyposthenia, left upper limb hypotrophy and diffuse fasciculations. The patient was diagnosed with “suspect motor neuron disease" and was treated with IVIG cycles with slight initial improvement, but later lack of response and worsening of the clinical condition.

Motor Neuropathy

52-year-old male with a one year history of lower motor neuropathy affecting the limbs, left upper and lower limbs clinically and all 4 limbs electrically. The neurologic examination showed left lower and left upper limb hyposthenia with mainly distal motor clumsiness, appearance of left upper limb hypotrophy and diffuse fasciculations. The patient was diagnosed with “suspect motor neuron disease" and was treated with IVIG cycles with slight initial improvement, but later lack of response and worsening of the clinical condition.

Erectile Dysfunction in Diabetes

50-year-old male complaining of gradual appearance of erectile dysfunction up to absolute impossibility of even just a single erectile event. His medical history is significant for Type II Diabetes Mellitus and prostatitis. He started taking Cialis, Levitra, and then Viagra without obtaining any benefit. He underwent EMG of the inferior limbs and hematochemical examinations, that revieled signs of diabetic polyneuropathy, and possible superimposed lumbosacral radiculopathy. The possibility to give intracavernous penile injections has been proposed.

Hypoesthesia of the Lower Limb

Male patient had twist injury of his knee with tear of the ACL and was operated. After the surgery he suffered acute lumbalgia. Twelve days later he was re-admitted for knee effusion and elevated body temperature, and arthrolysis and joint washing were performed. Following the procedure he complained of hypoesthesia of the proximal lower left limb and knee. EMG reveled L4 and S1 root damage, and MRI showed reduced lumbar lordosis and different disc lesions. In case of compression neuropathy (tourniquet), the expert recommends symptomatic only treatment.

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.

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

Endometrial Cancer

52-year-old female with a diagnosis of stage IIIC Grade 3 endometrial cancer. Following the adequate surgery she was started on a chemotherapy protocol, including Taxol, Epirubicin and Cisplatinum. However the first course caused severe toxicity and was switched to Taxol and carboplatinum. One treatment option is by intense combination chemotherapy, and therefore the expert supports the protocol used by this case. Another option is endocrine manipulation by hormone therapy.

Pulmonary Heteroplasia – additional opinion

66-year-old female was diagnosed, following persistent cough, with lung tumour with concomitant pulmonary nodules and a measurable enlargement of lymph nodes. FBS was positive for well differentiated neuroendocrine carcinoma and a needle biopsy revealed adenocarcinoma with associated neuroendocrine differentiation.

IgG Multiple Myeloma

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.

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.

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.

Acquired deformity of left foot in Parkinson’s Disease
73-year-old male with a diagnosis of Parkinson's disease (PD) since 2001. The cause for this consultation is a problem in the left foot that appeared in 2005 and has worsened since. The diagnosis was "a serious pronated flat foot transverse to the left” causing pain radiating up to the thigh and hip and causing recurrent falls with serious injury.
Cerebral Atrophy

A 52 year old began having difficulties with balance. His problems evolved and he had been seen by neurologists providing clinical evidence for a cerebellar motor syndrome. The most recent examination showed ataxia, dysarthria, nystagmus, dysphagia and hyperreflexia. Although the disease has progressed the patient is not severely disabled at this time.