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There have been only 14 reported individuals with lateral meningocele syndrome with 7 of those who have a molecularly confirmed diagnosis. [5] There is no specific treatment for this syndrome, but only supportive management including lateral spinal meningoceles, psychomotor development, musculoskeletal, and routine management.
10: Sparrow DB et al. 2008: 1: Caucasian Mediterranean child with hydrocephalus and myelomeningocele, shortened thorax, ectopic and stenotic anus, and talipes associated with SCDO-4 11: Çetinkaya M et al. 2008: 1: Male child born at 40 weeks of gestation with lumbosacral myelomeningocele. 12: Kansal R et al. 2011: 1
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]
Currarino syndrome has an autosomal dominant pattern of inheritance. The disorder is an autosomal dominant genetic trait [5] caused by a mutation in the HLXB9 homeobox gene. In 2000 the first large series of Currarino cases was genetically screened for HLXB9 mutations, and it was shown that the gene is specifically causative for the syndrome, but not for other forms of sacral agenesis.
Sneddon's syndrome is a progressive, noninflammatory arteriopathy leading to the characteristic skin condition and to cerebrovascular problems, including stroke, transient ischemic attack (TIA), severe but transient neurological symptoms thought to be caused by cerebral vasospasm, coronary disease and early-onset dementia.
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).
Diagnosis is typically made by physical examination and medical imaging. [1] Hydrocephalus is typically treated by the surgical placement of a shunt system. [1] A procedure called a third ventriculostomy is an option in some people. [1] Complications from shunts may include overdrainage, underdrainage, mechanical failure, infection, or ...
The prognosis after successful hydrocephalus treatment is usually good but depends on any associated condition and its symptoms. [5] [6] Those without hydrocephalus are treated based on any associated symptoms or condition. [13] The prevalence of DWM is estimated at between 1 in 25,000 to 1 in 50,000.