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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.
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).
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 pathophysiology of HLS is abnormal cilia development arising from the inability of the mutated HYLS1 gene to correctly target centrioles to the plasma membrane. [10] Specifically, transition fibres within the transition zone, at the base of the axoneme and adjoining to the plasma membrane, lack proper development. [ 11 ]
Risk-benefit analyses have shown beyond any doubt that surgery for NPH is far better than conservative treatment or the natural course. [22] VP shunt is less likely to be recommended in those who have severe dementia at time of NPH diagnosis, regardless of findings found on MRI or CT. [10] [28] Gait symptoms improve in ≥ 85% patients.
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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.