Skip to main content
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 – 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.

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

Chronic Atrial Fibrillation in Patient with Prior Hemoptoic Episodes in Bilateral Bronchiectases

74-year-old female suffers from recurrent episodes of paroxysmal atrial fibrillation (PAF) and has been recommended oral anti-coagulant therapy with warfarin (Coumadin). She has mitral regurgitation, and on the other hand was diagnosed as suffering from congenital bronchiectasis with several episodes of significant bleeding (hemoptysis). Following these hemoptoic episodes she underwent series of diagnostic as well as therapeutic pulmonary intervention (bronchoscopy, angiography, embolization).

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.

Cystic Pleuro-Pulmonary Blastoma – additional opinion

2-year-old girl was diagnosed with pleuropulmonary blastoma (PPB). She presented with cough and fever which was treated as pneumonia. When her symptoms did not improve, a chest X-ray showed a right lower lobe infiltrate with pleural effusion and a cystic lesion superiorly. She was further treated with antibiotics and improved clinically, but follow-up with chest CT showed a persistent cystic area in the right lower lobe and pneumothorax. She thus underwent pleural drainage and thoracoscopic biopsy, revealing a diagnosis of "cystic pleuropulmonary blastoma".

Psychomotor retardation due to spinal amyotrophy

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.

Stage 4 Neuroblastoma – additional opinion

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.

Cystic Pleuro-Pulmonary Blastoma

2-year-old female had been diagnosed with Pleuropulmonary Blastoma. The disease extent included the lung and pleura with no signs of metastatic spread. It was decided to start with 3 cycles of chemotherapy and afterwards to carry out a CT scan reassessment and surgical operation. The expert agrees that patients treated with combination of chemotherapy and complete surgical resection do better. Achieving total resection of the tumor results in a significantly better prognosis, whereas extrapulmonary involvement at diagnosis results in worse prognosis.

Stage 4 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.

End Stage Renal Disease

54-year-old obese male with end stage renal disease due to membranous nephropathy, has received 2 renal transplants in the past and is highly sensitized. He underwent coronary angiography for vessel CAD, and PTCAs and stanting were performed. His current treatment consists of multiple medications including mycophylate according to the instructions of his transplant nephrologist. His cardiologists sees no contraindication to transplantation.