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.
36-year-old otherwise healthy female presented with an atypical pap smear. Biopsy of cervix revealed poorly Differentiated Neuroendocrine Carcinoma. Immunohistochemical staining showed the cells positive for NSE, SYN, CHR, and 90% positive for Ki67 (proliferative index). The findings of the PET-FDG test showed pathological absorption of FDG as a primary tumor of the cervix, towards the left side of the body. Moreover, evidence is seen of nodal metastatic spread in the retroperitoneum and pelvis, mainly on the left.
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.
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.
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.
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.
A 4 year old girl with normal birth history and development with the exception of an episode of maternal hemiplegia during pregnancy. There is no significant family history of any neurological issues. Her medical history is unremarkable except for celiac disease which is treated with a gluten-free diet.
An half a year ago she developed scarlet fever and began to have episodes of right hand tremor lasting 6 seconds with no alteration of consciousness. One month later she had more events and was taken to the local ED where an EEG was performed.
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.
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.
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.
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.
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.
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.
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.
53-year-old male complained of right flank discomfort. Scans revealed solid lesion with necrotic content in the left kidney, and radical nephrectomy with ipsilateral para-aortic lymph node dissection was performed. Pathology diagnosis was a clear cell renal carcinoma. The experts recommends a close routine follow up together with routine opthalmoscopy in order to detect retinal angiomas that can be an affect of VHL gene mutation.
