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.
51-year-old female with vitamin D deficiency and incompatibility between the PTH and vitamin D levels. She reports that as a child she had numerous cavities in her jaw, and her daughter also had multiple tooth fillings. She wonders whether the reason could be genetic abnormality.
66-year-old male with a 6-year history of sensory symptoms in the feet and hands. He describes a sensation of cold and stinging in the feet; and numbness in the hands, especially at night. Nerve conduction and EMG demonstrated axonal and demyelinative sensorimotor neuropathy with neurogenic changes in muscles. Follow-up nerve conduction testing that was performed 2 years later showed similar findings.
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.
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.”
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.
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.
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 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.
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.
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.
Patient with clinical and laboratory picture compatible with acute infectious mononucleosis with Epstein-Barr Virus (EBV) receives from the expert wide information regarding the virus, the symptoms and clinical course, the needed follow-up tests etc.
Patient with clinical and laboratory picture compatible with acute infectious mononucleosis with Epstein-Barr Virus (EBV). Although he still feels weak, his condition is slowly improving. There is a gradual disappearance of the fever episodes and rash, in parallel with gradual normalization of the liver enzymes results, and disappearance of atypical lymphocytes. The reactivation of Herpes labialis can be explained by the stress involved in the EBV infection or the Cortisone treatment.
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.
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.
47-year-old female with neck problems underwent Blink Reflex tests and EMG of the neck, and was diagnosed with cervical dystonia. Medical treatments available for cervical dystonia include anticholinergic therapy, Baclofen, or deep brain stimulation, but the mainstay of therapy remains botulinum toxin injections, which are considered the superior treatment for symptom control with less side effects in comparison to oral medications.
42-year-old female with chronic renal insufficiency secondary to immune complex mediated glomerulonephropathy, hypertension, Type 2 diabetes mellitus, and hyperlipidemia. The recommended solution for her is kidney transplant. Possible causes of immune complex deposition disease include Cryoglobulinemia, IgA nephropathy, Membranous nephropathy, and Idiopathic immune complex mediated glomerulonephritis which is the diagnosis of exclusion.
78-years-old male with poorly differentiated hormone resistant prostate cancer. The expert recommends treatment with Ketoconazole as a "second line" hormonal treatment, together with LHRH agonist that he currently takes.
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.
The patient, 43 year old, used to be very physically active and carry a large amount of equipment on him.
