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.
51-year-old female underwent Lumpectomy and sentinel lymph node biopsy for infiltrating duct carcinoma of her left breast. The tumor was completely excised and concluded as stage I. The estrogen and progesterone receptor status were optimal, and therefore the expert recommends hormone therapy. He also recommends to complete the ongoing adjuvant irradiation program, to complete staging procedures, and to undergo genetic counseling.
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.
