Agenesis of the corpus callosum (ACC) is a malformation which may occur either isolated or in association with other CNS or systemic abnormalities. ACC occurs sporadically, although the incidence is increased in chromosomal disorders such as trisomy 8, 13, or 18. Familial cases have also been reported. Apart from the CNS, the musculoskeletal and genitourinary systems may be affected as well. We...

Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of congenital hypopituitarism, including septo-optic dysplasia and Kallmann syndrome. In the present study, using next-generation targeted sequencing, we identified a novel heterozygous PROKR2 variant (c.742C>T; p.R248W) in a female patient who had combined pituitary hormone deficiency (CPHD), mo...

The pituitary gland is an endocrine organ that is developmentally derived from a fold in the oral ectoderm and a juxtaposed fold in the neural ectoderm. Here, we show that the absence of Vax1, a homeodomain transcription factor known for its role in eye and optic chiasm development, causes the rostral oral ectoderm to form an ectopic fold that eventually develops into a separate second pituitar...

Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology. The majority of SOD cases are sporadic, but in rare instances inherited mutations have been identified in a small number of transcription factors, some of which regulate the expression...

INTRODUCTION Patients with fronto-orbital fibrous dysplasia (FD) occasionally present fronto-orbital protrusion, exophthalmos, and visual acuity disturbance. Simultaneous management of these conditions has not been previously described. CASE DESCRIPTION A-10-year-old female with fronto-orbital FD complained of left visual acuity disturbance. Head computed tomography showed compressed optic ca...

toxic optic neuropathy (ton) is a group of medical disorders which can be defined by visual impairment due to optic nerve damage by a toxin. the exposure to a toxic substance can occur at the workplace, with ingestion of materials/ foods containing a toxin, or the use of systemic medications. ton is a disease entity which is not only under-diagnosed, but also often diagnosed at a stage when rec...