Neural tube defects of the brain and spinal cord, among the most common birth defects in the United States, cause neurologic morbidity from the lesions themselves and from associated hydrocephalus and Arnold-Chiari malformation. Because the myelomeningoceles, and encephaloceles are repaired surgically within hours of birth, neonatal anesthetic management with attention to fluids, body temperatu...

Craniometaphyseal dysplasia is a rare genetic condition characterized by progressive thickening of bones in the skull and metaphyseal abnormalities in the long bones. This disorder often causes progressively symptomatic cranial nerve compression, but in rare cases foramen magnum stenosis may lead to quadriplegia. Chiari I malformation with craniometaphyseal dysplasia is extremely rare. The auth...

BACKGROUND The diagnosis and management of Chiari I malformations (CMI) remains controversial, particularly since it is often an incidental finding on cervical MR scans performed for neck pain and/or headaches. Recently, some surgeons "over-operated" on asymptomatic patients with Chiari I malformations, or even on those without the requisite radiographic diagnostic features for Chiari I malform...

Holoprosencephaly (HPE), the most common human forebrain malformation, occurs in 1 in 250 fetuses and 1 in 16,000 live births. HPE is etiologically heterogeneous, and its pathology is variable. Several mouse models of HPE have been generated, and some of the molecular causes of different forms of HPE and the mechanisms underlying its variable pathology have been revealed by these models. Herein...

To cite: Waqar M, Vohra AH. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013201708 DESCRIPTION A 21-year-old right-handed man, with no medical history of note, presented to neurosurgery outpatient department in Pakistan, with a 5-year history of numbness and pain in his upper limbs. The patient gave a troubled account of constant, currentlike pain, tracking do...