Skip to main content
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.

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.

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.

Asthenic-dispeptic syndrome post laparoscopic cholecystectomy

48-year-old male underwent laparoscopic cholecystectomy for symptomatic cholelithiasis. During post-surgery he developed intense abdominal colics and a situation of hepatitis, probably from medicines as the tests carried out. Performed tests revealed changes of haematic values related to the hepato-renal function. MR-cholangiography showed cystic formation in the right lobe of the liver, and tumor markers that gave evidence of an increase of alpha-fetoprotein which should be monitored.

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.

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.

Lichen planopilaris (follicular lichen planus) affecting the scalp

A 50 years old female complained about appearance of detached pruritic symptomatology affecting the trunk and the scalp. The patient carried out numerous dermatology specialist examinations on the following 3 years. Her allergy tests results were negative and she diagnosed with a seborrhoeic dermatitis affecting the scalp. As the patient did not achieve any result with the prescribed therapies ,she carried out biopsy. The biopsy was consistent with a “Lichen Planopilaris.”

Right Microtia

1-month-old female with Microtia of the right ear, which is a single finding and not part of a syndrome. Hearing test is recommended.

 

Multiple Sclerosis (MS)

41 year-old male was recently diagnosed as having multiple sclerosis (MS) after episodes of leg and shoulder weakness and parasthesis. Lately he experiences dizziness. His MRI showed several demyelinating lesions, other ancillary tests showed demyelinating damage to the auditory and visual pathway. Currently he has no functional or sensorial deficiencies. He was offered several immunomodulatory treatment options: Rebif, Betaferon and Copaxone, and asks about their pros, cons and complications, and about the differential diagnosis.

Hyperthyroidism in autoimmune non-nodular thyroiditis

21 years old female who provided us medical report of her endocrinological examination with diagnosis of “Basedow’s Hyperthyroidism in autoimmune non-nodular thyroid (Hashimoto’s thyroiditis). Under therapy with Tapazole at the dosage of 2 tablets daily with FT3 and FT4 values within normal limits and TSH=0.00” . In the light of such values and of the clinical picture, the specialist confirmed the current therapy with Tapazole (2 tablets daily) suggesting therapeutic dosage of 131 Iodine after examination at nuclear medicine department.

Elevation of Ca 19-9

72-year-old female with elevated levels of the tumour marker CA 19-9 but none of the diagnostic tests showed any tumour finding. The levels of CA 19-9 remained in the pathologic range, although with decreasing values. Currently, the patient is not reporting any significant symptoms.

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.

Operated breast cancer with metastases

A 55 years old female was diagnosed with infiltrating ductal carcinoma of the right breast 7 years ago. The patient underwent a right quadrantectomy and axillary lymph nodes removal, adjuvant chemotherapy and radiation therapy. 5 years ago, after diagnostic finding of reappearance of infiltrating ductal carcinoma of the right breast, the patient underwent right mastectomy and revisional surgery of axillary armpit, and another adjuvant chemotherapy. 

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.

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.

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.

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.

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.