GeneReviews(®)

GeneReviews(®)

Book. 1993

Authors: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K

Abstract
CLINICAL CHARACTERISTICS: Lateral meningocele syndrome (LMS) is characterized by multiple lateral spinal meningoceles (protrusions of the arachnoid and dura through spinal foramina), distinctive facial features, joint hyperextensibility, hypotonia, and skeletal, cardiac, and urogenital anomalies. Neurologic sequelae of the meningoceles depend on size and location and can include neurogenic bladder, paresthesias, back pain, and/or paraparesis. Other neurologic findings can include Chiari I malformation, syringomyelia, and rarely, hydrocephalus. Additional findings of LMS include mixed or conductive hearing loss and cleft palate. Skeletal abnormalities may include scoliosis, vertebral fusion, scalloping of vertebrae, and wormian bones. Although developmental delay is common, cognition is often preserved. Feeding difficulties and gastroesophageal reflux disease (GERD) are common.
DIAGNOSIS/TESTING: The diagnosis of LMS syndrome is established in a proband with consistent clinical findings and a heterozygous pathogenic variant in NOTCH3.
MANAGEMENT: Treatment of manifestations: Routine management of neurologic sequelae of lateral meningoceles (neurogenic bladder, paresthesias, back pain, and/or paraparesis). Although rarely required, surgical intervention may be necessary for neurologic manifestations secondary to meningocele size and location. As needed: management by specialists in chronic pain management or rehabilitation medicine; physiotherapy to reduce the risk for joint subluxation and dislocation. Routine management of: cleft palate, hearing loss, congenital cardiac defects, GU abnormalities, feeding difficulties. Surveillance: Ongoing monitoring by the appropriate subspecialists for neurologic, developmental, musculoskeletal, cardiovascular, genitourinary, and/or gastrointestinal issues.
GENETIC COUNSELING: LMS is inherited in an autosomal dominant manner. Although most probands have the disorder as a result of a de novoNOTCH3 pathogenic variant, affected parent-child pairs have been reported. Each child of an individual with LMS has a 50% chance of inheriting the NOTCH3 pathogenic variant. When the NOTCH3 pathogenic variant has been identified in an affected family member, prenatal testing and preimplantation genetic diagnosis for a pregnancy at increased risk are possible options.

PMID: 27336130

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