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Spina bifida (SB; /ˌspaɪnə ˈbɪfɪdə/, [9] Latin for 'split spine') [10] is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. [1] There are three main types: spina bifida occulta, meningocele and myelomeningocele. [1]
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
This genetic disease in very rare. There have been 16 reported cases in 14 different families. [4] 9 cases were male patients and 7 cases were female patients. [4] Inheritance of Lehman syndrome from a parent has occurred. However de novo mutations of the Notch 3 gene are more common. [4] There is no prevalence in specific populations. [5]
Hydrocephalus can be classified via mechanism into communicating, noncommunicating, ex vacuo, and normal pressure hydrocephalus. Diagnosis is made by physical examination and medical imaging, such as a CT scan. [1] Hydrocephalus is typically treated through surgery. One option is the placement of a shunt system. [1]
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [ 1 ]
Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube.
The mesoderm and neural tube will continue to develop until a tumor of fat is formed. Later in development, membranes known as meninges will form around the neural tube, but in a lipomyelomeningocele, there is a disruption in their formation that will create a space for the meninges and the lipoma to spread towards the skin behind the spinal cord.
Meningioma seen at autopsy, as a tumor of the dura mater extending into the cranial cavity, and can be detached from the bone along with the rest of the dura mater. Small tumors (e.g., < 2.0 cm) usually are incidental findings at autopsy without having caused symptoms. Larger tumors may cause symptoms, depending on the size and location.