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.
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.
10 months old, female. After normal birth (at the 40th week of pregnancy) and neonatal period, started to suffer from gastroesophageal reflux and recurrent respiratory infections, at times with broncospasm. In addition, psychomotor retardation was found and the young patient was assessed by a neurologist. The tests run (EMG and genetics for SMA) pointed to the diagnosis of Spinal Amyotrophy.
After hospitalization due to catarrhal bronchitis, the patient was discharged in good general conditions with recomendations for respiratory physiotherapy and neurological rehabilitation.
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.
81-year-old female with age related macular generation in both eyes. In the expert's opinion, she suffers from Non- Neovascular AMD with high risk characteristics to transform to the Neovascular form, and therefore she should have a retinal follow-up every 4 months, and receive the AREDS formulations of vitamins and minerals, that reduce the risk of losing vision from this condition.
48-year-old male who had undergone multiple surgical attempts to augment mandibular bone for implant placement ('pins'). The patient received the opinion of a spesialist who spotted severe atrophy in the right mandibular posterolateral area. He reported on the condition of the mucosa with high insertion of frenii in the level of the alveolar ridge. Also the report related to occlusion problem and temporo mandibular dysfunction. In 2007, the patient received a report following a neurophysiological examination of the masseter muscle showing a change in sensation from the lower alveolus.
73-year-old female with history of backache and diagnosis of Adult Scoliosis, fell down getting a back trauma at the level of the left hip and inferior limb. After severe symptomatic worsening X-ray examination was performed. The findings were: asymmetric pelvis, bilateral coxarthrosis, coarse arthrosic and osteophytosic manifestations, discopathies and disc arthrosis. The prescribed therapy included Piroxicam, Tioside, Depalgos, and low-molecular-weight-heparin therapy that was later replaced by NSAIDs by injection
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
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.
81-year-old female with age related macular generation in both eyes, most probably of the dry type. In the expert's opinion, she should have a retinal follow-up every 4 months and check her central vision on a daily basis. As for treatment, she should receive the AREDS formulations of vitamins and minerals, because these medications reduce the risk of losing vision.
42-year-old female with chronic renal insufficiency secondary to immune complex mediated glomerulonephropathy, hypertension, Type 2 diabetes mellitus, and hyperlipidemia. The recommended solution for her is kidney transplant. Possible causes of immune complex deposition disease include Cryoglobulinemia, IgA nephropathy, Membranous nephropathy, and Idiopathic immune complex mediated glomerulonephritis which is the diagnosis of exclusion.
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.
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-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.
