Gonadoblastoma is a rare gonadal tumour consisting of a mixture of germ cells and sex cord stromal derivatives resembling immature granulosa and Sertoli cells. It usually arises in various types of gonadal dysgenesis containing Y chromosome like pure or mixed gonadal dysgenesis. Occurrence in phenotypically and chromosomally normal women is very rare. We report here a case of gonadoblastoma wit...

introduction: in 1995, the world health organization (who) estimated that there were 37.1 million blind people worldwide. it has subsequently been reported that 110 million people have severely impaired vision, hence are at great risk of becoming blind. watkins predicted an annual increase of about two million blind worldwide. this study was designed to investigate the causes of blindness and l...

Abstract Background Y-type urethral duplication is a term frequently used to describe rare condition in the male associated with double urinary stream: weak interrupted stream through hypoplastic penile urethra, while main urine flow anus/perineum via accessory posterior channel. Fortunately, advent of MRI has provided powerful tool study these anomalies depth and on multiple planes. The includ...

A 61-year-old woman had bi lateral sensorineural hearing loss and difficulty with balance but no vertigo. Neurologic examination showed a right-sided peripheral facial nerve paresis, nystagmus on right and left lateral gaze, hypesthesia in the territory of the right trigeminal nerve with corneal hypesthesia, deviation to the right at toe walking, and positive Romberg sign. CT (Fig. 1 A) of the ...

BACKGROUND AND PURPOSE Although pathologic evidence of cerebellar injury due to birth asphyxia is well described, neuroimaging evidence is sparse. The primary purpose of this retrospective study was to evaluate the early and late imaging findings in the cerebellum of patients who had neonatal hypoxic-ischemic encephalopathy with thalamic edema shown by neonatal CT. The secondary aims were to va...

perrault's syndrome (p.s.) is rare. the combination of gonadal dysgenesis and hearing loss was accompanied by 46,xxkaryotype in three sisters with parental consanguineous marriage. genetic investigation revealed normal female karyotype, positive liarr and negative fluorescence ipj-bodies, which was confirmed by molecular study on the basis of fluorescence in situ hybridization (pish), with appl...

Swyer syndrome is one of the disorders sexual differentiation. Previous studies have demonstrated increased sympathetic activity with heart rate variability (HRV) analysis decreasing estradiol levels. One patient presented a pure 46, XY gonadal dysgenesis female phenotype. Cardiac autonomic modulation was assessed through HRV while at rest. This research analyzed linear and nonlinear indexes. s...

Mutism and neurobehaviour symptoms are well known features, which may occur following surgical excision of mass lesion of various histopathologies in the posterior cranial fossa, during the postoperative period. Mutism may be rarely associated with ataxia of eyelid closure and paresis of external ocular muscles. However, internuclear ophthalmoparesis is not reported in association with mutism f...