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Thrombotic thrombocytopenic purpura (TTP) secondary to Systemic Lupus Erythematosus (SLE)

15 years old patient presented with clinical syndrome of fever, fatigue, and diarrhea. Laboratory findings showed severe anemia with findings of microangiopathic hemolysis (schistocytes, hyperbilirubinemia, elevated LDH) and severe thrombocytopenia. He was later documented to have fluctuating ADAMTS13 activity that appeared to correlate with the hematologic abnormalities. He also had urinary findings of hematuria, moderate proteinuria, and creatinine as high as 1.4 mg/dL.

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.”

Demyelinizing Disease

47-year-old female with a diagnosis of Multiple Sclerosis ,who suffers from progressive tetraparesis, more pronounced in the lower extremities. Her treatment included mitoxantrone and Interferon-beta treatment, both were discontinued because of side effects. Her movement difficulties, due to the left lower limb rigidity, are increasing progressively.

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.
 

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.

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.

Valvular Heart Disease in Dissection of the Ascendant Aorta and Abdominal Aortic Aneurysm

72-year-old male with a diagnosis of mitral valve prolapse and chronic severe mitral regurgitation, aortic root and ascending aorta dilatation and patent foramen ovale. On 06/2008 he had dissection of the descending aorta. The clinical course has been characterized by hemodynamic stability and the vascular surgeon decided on conservative treatment and follow–up by thoracic CT.

Multiple Sclerosis_1

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.

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.

Multiple Sclerosis_2

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.

MDS – Myelodysplastic Syndrome

74-year-old male with gradual pan-cytopenia with predominant thrombocytopenia underwent a bone marrow biopsy that confirmed the diagnosis of Myelodysplastic syndrome (MDS). He is currently in good general health except for slowly progressive weakness and being constantly tired. In the expert's opinion, there is no indication for therapy at this time, since the counts are satisfactory for every-day living. Nevertheless, the treating options are erythopoietin injections, lenalidomide, Vidaza or Dacogen therapy, or stem cell transplantation.

Myelodysplastic syndrome (MDS), with kariotype del(11)q(11)

A 74 year-old male, that was diagnosed as suffering from myelodysplastic syndrome (MDS) with kariotype del(11)q(11) by a bone marrow biopsy, following a gradual pancytopenia. The patient complains about slowly progressive weakness and being constantly tired.He was offered chemotherapy, but he declined this treatment because of fear that it would worsen his already severe weakness.

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.

Cystic Neoplasms of the Pancreas

The expert shares broad information regarding Cystic neoplasms of the pancreas: categories, symptoms, diagnosis, treatment, risks and outcomes, and qualifications for performing surgery on the pancreas.

 

NF-1 and optic nerve glioma – additional opinion

5-year-old boy with diagnosis of neurofibromatosis type 1 underwent ophthalmological evaluation that showed reduction in visual acuity and reduction of the bilateral visual field. MRI showed presence of a big expansive lesion and of temporopolar arachnoid cyst. The treating doctors recommended an urgent surgery in order to reduce the cerebral hypertension. In the expert's opinion, after having seen the images, the arachnoid cyst has not changed that much, and probably has little impact or effect, and therefore meanwhile no surgery is warranted.

Child suffering from NF-1 and optic nerve glioma

5-year-old boy with diagnosis of neurofibromatosis type 1 underwent ophthalmological evaluation that showed picture of slight reduction in visual acuity of the right eye and severe hypovision of the left eye with slight reduction of the bilateral visual field. MRI showed presence of a big expansive lesion and of right temporopolar arachnoid cyst. The treating doctors recommended an urgent surgery in order to reduce the cerebral hypertension.

Juvenile Arthritis with Systemic Onset (Stills Disease)

50-year-old male was diagnosed with Juvenile arthritis with systemic onset (Stills disease) after having symptoms of high fever, rashes and pain. He was treated with high doses of corticosteroids, but had two exacerbations in the last 2 years. In the current time he suffers of swelling of knee joints and hand joints, and occasionally a feeling of burning feet or cold feet. In the expert's opinion, the clinical description fit well with the diagnosis of adult onset systemic arthritis which manifestations are similar to the juvenile systemic arthritis.

Vitamin D Abnormality / Parathyroid Hormone Abnormality

51-year-old female with vitamin D deficiency among other medical problems: high blood pressure, episodes of transient syncope, and sleep apnea. In the expert's opinion frequent changes and discontinuations of drugs as well as big intervals between one dose to another, can be responsible for hypertensive crisis. Therefore the expert recommends to stop too frequent investigations , and instead focus on appropriate treatment, that should be combination of Angiotensin Receptor Blocker and diuretics.

Atrial Fibrillation at medium /high ventricular response_2

72-year-old male had a TIA in 1995 and has been in chronic atrial fibrillation since 1992. In 2005 2 ablative procedures were ineffective. The main treatment strategy for his atrial fibrillation has consisted of rate control and oral anticoagulation. Despite several attempts of different medications (digoxin, beta-blockers) he has remained in atrial fibrillation with a relatively moderate to fast ventricular response.