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 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.
35-year-old female felt unusual tiredness a few months after giving birth, she gained weight and felt pain all over her body, paresthesias in her hands, and loss of energy. Examination revealed diffusely enlarged thyroid gland, the patient was clinically hypothyroid, and levothyroxine was prescribed. In the expert's opinion, the high TSH and low levels of T3 and T4 suggests the patient most likely suffers from Hashimotos thyroiditis and replacement with thyroid hormone can be a solution for her condition.
30-year-old female was noted to have two right lobe of thyroid gland nodules on a neck ultrasound. A diagnosis of incidental finding of thyroid gland nodule in the setting of normal thyroid gland function was established. In the expert's opinion, the clinical presentation is consistent with a "cold" thyroid gland nodule. He recommends an ultrasound-guided fine needle biopsy, because the results of the cytology can guide the treatment and dictate the extent of surgery.
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. 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.
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.
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.
42-year-old patient with hypothyroidism (Hashimoto's) with a history of primary recurrent abortions, probably due to a uterine septum. She underwent 2 IVF cycle, the 2nd – with poor response. The expert suggests some diagnostic and therapeutic strategies.
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.
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.
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.
26-year-old female diagnosed with Chromosome 22 micro-deletion syndrome (VCFS). Psychiatric exam showed borderline cognitive ability, with attentive-amnesic-executive deficits. The suggested treatment is drug therapy together with psychological intervention.
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.
27-year-old female with a diagnosis of suspected fibromyalgia. Her history includes long standing widespread musculo – skeletal pain connected to a feeling of general slight illness, as well as a series of accompanying symptoms: frequent migraines, cervicalgia, stomach disorders, chest pain and tachycardia . Therefore, she has carried out various follow-ups that each time detected a different problem for which the relevant therapy was set out.
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).
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.
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.
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.
The patient is a 21 month old female who was born prematurely (at almost 29 weeks) weighing only 650g. She was released after 3 months from NICU, when she was 41 weeks old, weight 2kg. Her parents did not have any problems till she was 5 months old. Her major problems since have been: poor feeding, failure to gain weight and linear growth retardation. The poor feeding has been handled by an NG tube and later, food administration through a direct gastric tube via a gastrostomy.
21-month-old female who was born at almost 29 weeks weighing only 650g and with birth height of 31 cm. Her major problems have been poor feeding, failure to gain weight and linear growth retardation. The poor feeding has been handled by an NG tube and subsequently, food administration through a direct gastric tube via a gastrostomy. She gradually gained weight to the extent of being overweight for her height. Laboratory evaluation revealed low absolute numbers of neutrophils low lymphocyte count. Endocrynology and Genetics workup were normal.
