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.
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.
The expert answers various questions referred to him regarding ABO-incompatible (ABOI) renal transplantation without splenectomy, using antigen-specific immunoadsorption (IA) and rituximab.
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.
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.
A 57 year old female complained about appearance of red to dark red pruritic bullous lesions . These lesions were, and still are, located on the legs from the knee to the ankles, and on the back of the feet. These manifestations appeared in variable phases during the next 4 years, with episodes of more numerous pustules appearing in some periods, and more isolated in other periods.
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.
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.
67-year-old male began to complain of chronic pain in the left lower rib cage. The pain is stitch, ever-present, dull and localized at the level of his left last rib, and became slightly worse in the last 2 years. Recent image findings: MRI - "Ovalish hypoechogenic solid formation, Ultra sound - "Suspected intercostal neurinoma at ribs 10, 11 and 12.
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.
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
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.
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.”
18 years old male. 4 months ago the patient was hospitalized due to epigastric abdominal pain, lack of appetite and weight loss. He was diagnosed with Crohn’s disease.
Hepatic biopsy, that was performed during this hospitslization, showed evidence of an overlap syndrome picture (cholangitis/hepatitis). He was initially treated with Cortisone and Azathioprine.
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.
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.
58-year-old male suffers from advanced metastatic colon cancer with weakness, severe anemia and synchronic liver metastases. A good partial response has been accomplished by the combination chemotherapy and the antiangiogenic antibody Avastin. In the meantime, the patient has been started on a therapeutic protocol based on hyperthermia. In the expert's opinion, There is no evidence that hyperthermia is of any benefit in this patient.
59-year-old-male underwent biopsy, after founding epigastric mass, and was diagnosed with B-cell lymphoma. He was treated as an aggressive lymphoma with R-CHOP. Because of neurtopenia, the planned 6 cycle regimen was not completed and a radiation course was administered. Since then the patient feels well, but continues to have prolonged and persistent neutropenia with mild thrombocytopenia. The expert suggests differential diagnosis of the bone marrow problem, and recommends additional diagnostic workup.
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.
82-year-old female with severe osteoporosis manifests with vertebral fractures. During treatment with Risedronate, she suffered another fracture. In the expert's opinion, taking into account the patient's age, the presence of fractures and low BMD, the patient is at a very high risk to develop a recurrent fracture so treatment must be given. The expert recommends to rule out secondary causes for osteoporosis such as vitamin D deficiency, to keep a healthy as possible way of life, and change the treatment with Risedronate to Forteo (Teriparatide).
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.
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.
51-year-old male with past medical history that is remarkable for Sino-nasal adenocarcinoma which was resected 13 years ago, and a recurrent local tumor which was re-operated. Since late 2007, the patient has been noticed to have mild macrocytic anemia and leucopenia, and the hematologist thought it might represent a myelodysplastic syndrome.
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.
7-year-old boy with prodrome of right-sided and right face weakness, gait ataxia, and intermittent headaches. Head computed tomography demonstrated a tumor at the brainstem/posterior fossa, and then MRI confirmed a diffuse intrinsic pontine glioma (a typical brainstem glioma). Following initiation of dexamethasone (Decadron, steroid for vasogenic edema), the child has started experimental treatment with the medicine nimotuzumab to be followed with conventional radiotherapy.
