Osteopetrosis (OP) is hereditary X-linked, autosomal recessive (ARO), or autosomal dominant (ADO) skeletal disease. ARO has two subtypes, which are infantile malignant and intermediate type. ARO and X-linked OP have poor clinical outcome. ADO is called adult benign type because of the normal life expectancy, which has type I and type II. Here, the authors present an ADO patient with Chiari type...

Blue rubber bleb naevus syndrome is an uncommon disorder whereby patients possess cutaneous vascular malformations. Cranial malformations have been rarely reported in the literature. We report the first ever case of a patient with blue rubber bleb naevus syndrome (BRBNS), who was found to have a symptomatic Chiari malformation and prominent subcutaneous vascular malformations in communication w...

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...

Chiari malformation type 1 is a heterogeneous disease characterized by cerebellar tonsillar herniation through the foramen magnum. Symptomatology is diverse, and diagnosis and treatment are controversial. Some evidence suggests the presence of a genetic component to the disease. However, the specific genetic factors involved remain relatively unknown. Previous reviews have broadly addressed dif...

Syncope precipitated by sneezing in an adult male associated with an Arnold-Chiari type I malformation and basilar invagination presents a clinical problem in the differential diagnosis and pathological anatomy of Valsalva-related syncope. An abnormally acute clivoaxial angle, small foramen magnum, and type I Arnold-Chiari malformation appear to be a combination of features intolerant of Valsa...

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...

Spina bifida (SB) is associated with chronic kidney disease as a result of vesicoureteric reflux. A proportion of patients progress to end-stage kidney disease (ESKD). Haemodialysis (HD) is probably the most common modality in ESKD, as intra-abdominal malformations and previous surgery can make peritoneal dialysis more challenging. The Chiari malformations also frequently occur in these patient...