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Pretzel syndrome

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Pretzel syndrome or PMSE is a rare disorder characterized by skeletal deformity, malformation of the brain (with accompanying seizures), electrolyte imbalances, and variable malformations of the heart and other organs [1]

Due to the peculiar positioning of the legs due to the muscular hypotonia in combination with connective tissue problems, children with mutations in the STRADA/LYK5 gene can twist themselves into a pretzel-like configuration.[2]


Treatment

[3] [4]

See also

Crigler Najjar syndrome [5]

Links

Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome

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  1. Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder
  2. [1]
  3. http://search.proquest.com/openview/c03b6627d94eb71e741206889933794f/1.pdf?pq-origsite=gscholar&cbl=33975
  4. http://www.mdedge.com/neurologyreviews/article/73249/epilepsy-seizures/rapamycin-shows-promise-treating-seizure-disorders
  5. https://karmel.miraheze.org/wiki/Archivo:GeneticCharacterization.pdf