Lissencephaly

Summarized by Plex Health
Last Updated: 09 May 2022
medpix case - lissencephaly "medpix case - lissencephaly", by Original Source: William R. Krueger; Author: William R. Krueger (David Grant USAF Medical Center); Approved By: Stephen M. Yoest (Madigan Army Medical Center);. Axial T2 FRFSE...

Lissencephaly type 1, additionally called classic lissencephaly, is a brain malformation that may occur as a separated irregularity or in association with specific disorders. Babies with classic lissencephaly might have a head that is smaller sized than would be expected. Of these, LIS1 and DCX gene mutations have been most examined. Infants with lissencephaly type 1 that have no underlying syndrome are said to have isolated lissencephaly series. Along with lissencephaly, those with the problem may have other connected brain malformations, such as absence or underdevelopment of the corpus callosum, which is the thick band of nerve fibers that sign up with and carry messages in between the brain's 2 analytical hemispheres. Affected infants commonly have microcephaly, seizures, and extreme or profound intellectual handicap. Additional symptoms and searchings for may include feeding difficulties, development failure, extraordinarily diminished muscular tissue tone early in life, and increased muscular tissue tone later on throughout early stage, and damaged motor capabilities. Lissencephaly type 1 occurs in association with genetic syndromes, including Miller-Dieker syndrome and Norman-Roberts syndrome. Along with symptoms and signs of classical lissencephaly, babies with Miller-Dieker disorder might also malformations consisting of microcephaly with a wide, high forehead; bitemporal hollowing; a reasonably vast face; micrognathia; a long, slim top lip; a short nose with upturned nostrils; low-set, malformed ears; polydactyly; abnormal palmar folds; cataracts and/or malformations of the heart, kidneys and/or other body organs. Norman-Roberts syndrome is defined by lissencephaly type 1 features with certain craniofacial irregularities, such as a low, sloping forehead; abnormal prestige of the back part of the head; a wide, popular nasal bridge; and widely set eyes.

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