Meckel-Gruber Syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial polydactyly, and enlarged polycystic kidney dysplasia. With a recurrence risk of 25% this lethal syndrome can be detected in early screening by ultrasound. However, to the authors' knowledge, association of MKS with unilater...

INTRODUCTION von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities. CASE PRESENTATION We report a neonate from Indian ethnicity who was diagnosed wit...

A 15-year-old girl presented for evaluation of short stature and delayed sexual maturation. Her weight and height were 91 lb. (41 .3 kg) and 58 in. (147.3 em), respectively. She had not yet begun menstruating and had had no development of secondary sexual characteristics. Moderate ocular hypertelorism was present. A brain CT scan was initially interpreted as showing an intrasellar and suprasell...

OBJECTIVE AND IMPORTANCE Intrasphenoidal encephalocele is a rare clinical entity that is often complicated by rhinorrhea, recurrent meningitis, and headache, but in no case has the association of rhinorrhea with subdural hematomas been described. A surgical procedure to stop persistent cerebrospinal fluid leakage is reported. CLINICAL PRESENTATION A 59-year-old man sought care for intractable...

As a result of the representation of numerosities, more accurate and faster discrimination between two numerosities is observed when the distance between them increases. In previous studies, the comparison and same-different task were most frequently used to investigate this distance effect. Recently, it was questioned whether the non-symbolic distance effects derived from these tasks originate...

291 Dear Editor-in-Chief, We have read the paper of Song et al. [1] on frontonasal dysplasia deformity. It was an interesting discussion of an image that depicts a boy with a nose deformity, and it was reported that no basal encephalocele was observed. We would like to point out that we had a similar case of a girl with the same nose deformity. As in the report by Song et al., our patient also ...

Abstract Background Encephaloceles are cystic congenital malformations in which central nervous system (CNS) structures, communication with cerebrospinal fluid (CSF) pathways, herniate through a defect the cranium. Hydrocephalus occurs 60–90% of patients occipital encephaloceles. Objective Assessment surgical management hydrocephalus associated encephalocele and its effect on clinical outcome. ...

Iniencephaly is an uncommon neural tube defect, having retroflexion of the head without a neck and severe distortion of the spine. Iniencephaly is classified into two groups, iniencephaly apertus (with encephalocele) and iniencephaly clausus (without encephalocele). Incidence ranges from 0.1 to 10 in 10.000 pregnancies and it is seen more frequently in girls. Most of the fetuses with this defec...

A 35-year-old female complained of right-sided watery nasal discharge persisting for 2 weeks. Neuroimaging investigations revealed a defect in the lateral side of middle cranial fossa, temporal lobe encephalocele protruding into the lateral extension of the sphenoid sinus, and cerebrospinal fluid (CSF) collection on the right side of the sphenoid sinus. The transcranial approach was performed f...

Prism adaptation (PA) has been demonstrated to be effective in improving hemispatial neglect. However not all patients seem to benefit from this procedure. Thus, the objective of the present work is to provide behavioural and neuroanatomical predictors of recovery by exploring the reorganization of low-order visuo-motor behaviour and high-order visuo-spatial representation induced by PA. To thi...