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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. [5]
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]
In neurology, a lipomyelomeningocele is a type of closed neural tube defect that affects around 3 to 6 babies out of 100,000 births. [1] [2] It is an example of a spinal lipoma, which is a collection of adipose tissue, or fat, that is located at or around the spinal cord.
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 ...
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.
Differential diagnosis can be challenging due to the number of overlapping symptoms, shared between several motor neuron diseases. [14] Frequently, the diagnosis is based on clinical findings (i.e. LMN vs. UMN signs and symptoms, patterns of weakness), family history of MND, and a variation of tests, many of which are used to rule out disease ...