Conjoined twinning is a rare abnormality and cephalopagus is a very rare form of conjoined twins. We report a case of cephalopagus conjoined twins with encephalocele and omphalocele which diagnosed by ultrasonography and ultrafast magnetic resonance (MR) imaging at 24 weeks of the gestation. Ultrafast MR imaging can provide image quality superior to two dimensional ultrasonography and should be...

Fracture of the anterior skull base can occur following head injury. Growing skull fracture is usually observed in children under age of 3-years. It commonly involves frontal and parietal regions. However, orbit involvement is extremely uncommon. Authors report a case of giant orbital encephalocele with a forehead disfiguring swelling in a 4-years boy, who sustained head injury about 3½ years b...

Neural tube defects (NTD) are severe congenital malformations and can be fatal. These malformations constitute one of the principal causes of mortality and morbidity in childhood. Classically, NTD have been divided into two main groups: (a) defects affecting cranial structures, such as anencephaly and encephalocele, and (b) defects involving spinal structures (spina bifida) (Verrotti et al., 20...

A 7-year-old male child with normal neuro and mental development presented with facial malformations. He had hypertelorism, exotropia, broad nasal root, midline clefting of the nose and an operated scar for frontal encephalocele (Fig. 1). The anterior nares were short and narrow. His visual acuity was 6/24 in both eyes and he had bilateral optic nerve atrophy. The rest of the systems were norma...

Knobloch syndrome is an autosomal recessive disease characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele, mainly in the occipital region. Intra and interfamilial variability is present since the encephalocele is not found in all patients, and the degree of myopia is variable. Analysis of the assoc...

A 45-year-old woman had complex partial seizures for 25 years with pharmacoresistance for 2 years. EEG showed right temporal epileptiform discharges. MRI revealed atrophy of the right temporal parenchyma (figure, A) herniating toward the pterygomaxillary fossa and the sphenoidal sinus (figure, C). CT demonstrated the bone defect of the sphenoid wing (figure, B) whereas the fusion of both techni...

A 15-year-old female patient with progressive pulsatile exophthalmos caused by intraorbital encephalocele was evaluated with computed tomography (CT) and magnetic resonance imaging (MRI) in our clinic. She had no history of trauma or reconstructive surgery. When she was a little girl, she had undergone surgery for congenital glaucoma on the right eye. On the three-dimensional image of CT, a hyp...

Meckel-Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000-400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are...