X-linked complicated corpus callosum dysgenesis is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia. Only 13 cases (all male) have been described in medical literature. Transmission is X-linked recessive. It is the mildest subtype of L1 syndrome.This condition differs from other L1 syndromes due to the fact that neither hydrocephalus, adducted thumbs, or speech difficulties are common in patients with the condition. Genetics
This condition is caused by X-linked recessive mutations in the L1CAM gene, located in the long arm of the X chromosome. Mutations involved in the milder variants of L1 syndrome (including X-linked complicated corpus callosum dysgenesis) usually work by changing the L1 protein structure. Cases
The following list comprises all cases of X-linked complicated corpus callosum dysgenesis described in medical literature (from OMIM):
1964: Menkes et al. describes 5 males from 4 sibships of a 2-generation American family. The males (all infants) had partial corpus callosum agenesis, severe intellectual disabilities, developmental delays, and epilepsy. The disorder first manifested right after birth, with recurrent seizures occurring hours after it. Out of these 5 babies, 3 had died. Post-mortem examination of one of the dead infants revealed chemical and anatomical abnormalities. 1983: Kaplan et al. describes 2 males from a 2-generation Canadian family. The proband was a 2 year old male, the first-born child of healthy, non-consanguineous Ashkenazi Jewish parents in their mid-20s, his pregnancy was uneventful (besides slight vaginal bleeding experienced by the mother sometime during her first three months of pregnancy).
The most significant prognostic factor in people with acute compartment syndrome is time to diagnosis and subsequent fasciotomy. In people with a missed or late diagnosis of acute compartment syndrome, limb amputation may be necessary for survival. Following a fasciotomy, some symptoms may be permanent depending on factors such as which compartment, time until fasciotomy, and muscle necrosis. Muscle necrosis can occur quickly, within 3 hours of original injury in some studies. Fasciotomy of the lateral compartment of the leg may lead to symptoms due to the nerves and muscles in that compartment. These may include foot drop, numbness along leg, numbness of big toe, pain, and loss of foot eversion. Epidemiology
In one case series of 164 people with acute compartment syndrome, 69% of the cases had an associated fracture. The authors of that article also calculated an annual incidence of acute compartment syndrome of 1 to 7.3 per 100,000. There are significant differences in the incidence of acute compartment syndrome based on age and gender in the setting of trauma. Men are ten times more likely than women to develop ACS. The mean age for ACS in men is 30 years while the mean age is 44 years for women. Acute compartment syndrome may occur more often in individuals less than 35 years old due to increased muscle mass within the compartments . The anterior compartment of the leg is the most common site for ACS.