Preoperative pathologic diagnosis of pelvic tumors is mandatory for proper management of patients like neoadjuvant chemotherapy and interval debulking. Currently there are many minimally invasive methods available which include fine-needle aspiration cytology (FNAC) and trucut biopsy, mostly complimentary to each other. FNAC is a cheap, rapid and sensitive method for diagnosis of pelvic tumors.
View Article and Find Full Text PDFGlutaric aciduria type I (GA I) is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. This disorder is characterized by progressive dystonia, choreoathetosis, and dyskinesia. It is often misdiagnosed as athetoid cerebral palsy.
View Article and Find Full Text PDFProstate leiomyosarcoma is an extremely rare and highly aggressive neoplasm that accounts for >0.1% of all primary prostate malignancies. We report a case of a patient, presenting with recurrent episodes of dysuria, who had been diagnosed and operated for benign prostatic hyperplasia 1 month earlier, and now presented with similar symptoms postoperatively.
View Article and Find Full Text PDFMegalencephalic leucoencephalopathy with subcortical cysts (MLC) is a diffuse subcortical leucoencephalopathy with cystic white matter degeneration. Patients with MLC present with macrocephaly at the first year of life, and neurological abnormalities such as motor deterioration, ataxia, spasticity and cognitive defects progress later. MLC is caused by mutations in the gene MLC1, which encodes a novel protein, MLC1.
View Article and Find Full Text PDFKallmann's syndrome is a neuronal migration disorder characterised by anosmia/hyposmia and hypogonadotropic hypogonadism. We present a case of a 21-year-old man who was unable to sense smell since birth and who displayed non-development of secondary sexual characteristics for the past 10 years. Blood investigations showed low basal levels of serum follicle stimulating hormone (FSH), serum luteinising hormone (LH) and serum testosterone.
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