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Lateral Meningocele Syndrome

LMS


Presentation

  • These patients present distinctive craniofacial features and skeletal abnormalities in addition to multiple lateral meningoceles, suggesting a connective tissue disorder.[ncbi.nlm.nih.gov]
  • We report on a further observation of LMS in a 55-year-old woman presenting with a long history of joint instability, chronic musculoskeletal pain, and iatrogenic bladder and anorectal dysfunction due to irreversible nerve damage after surgical excision[ncbi.nlm.nih.gov]
  • The authors present the case of a 6-month-old female with LMS with multiple lateral meningoceles throughout the thoracic and lumbar spine.[ncbi.nlm.nih.gov]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis may be present.[ncbi.nlm.nih.gov]
Feeding Difficulties
  • Other signs and symptoms that can occur in lateral meningocele syndrome include a high and nasal voice, hearing loss, abnormalities of the heart or the genitourinary system, poor feeding, difficulty swallowing (dysphagia), and backflow of stomach acids[elbiruniblogspotcom.blogspot.com]
Poor Feeding
  • Other signs and symptoms that can occur in lateral meningocele syndrome include a high and nasal voice, hearing loss, abnormalities of the heart or the genitourinary system, poor feeding, difficulty swallowing (dysphagia), and backflow of stomach acids[elbiruniblogspotcom.blogspot.com]
Turkish
  • Mutations in NOTCH3 have identified in a Turkish family with Alzheimers disease. Adult Notch3 knock-out mice show incomplete neuronal maturation in the spinal dorsal horn.[wikivisually.com]
Nasal Voice
  • Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis may be present.[ncbi.nlm.nih.gov]
  • Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis.[uniprot.org]
  • Patients may also have hyperextensibility, hernias, scoliosis and aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis.[exeterlaboratory.com]
  • Other signs and symptoms that can occur in lateral meningocele syndrome include a high and nasal voice, hearing loss, abnormalities of the heart or the genitourinary system, poor feeding, difficulty swallowing (dysphagia), and backflow of stomach acids[elbiruniblogspotcom.blogspot.com]
High Arched Palate
  • Facial features found in this syndrome include dolichocephaly hypertelorism ptosis microretrognathia high arched palate long flat philtrum low set earsNon facial features of this syndrome include hyperextensibility hypotonia lateral meningocelesThe lateral[en.wikipedia.org]
  • Symptoms - Lateral meningocele syndrome * Generalized osteosclerosis * Multiple thoracic meningoceles * Multiple lateral meningoeles * Downslanting eye slits * High arched palate * Underdeveloped jaw * Underdeveloped facial bones * Large sella turcica[checkorphan.org]
  • Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears.[malacards.org]
Dolichocephaly
  • Facial features found in this syndrome include dolichocephaly hypertelorism ptosis microretrognathia high arched palate long flat philtrum low set earsNon facial features of this syndrome include hyperextensibility hypotonia lateral meningocelesThe lateral[en.wikipedia.org]
  • Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears.[malacards.org]
  • Showing of 59 80%-99% of people have these symptoms Atresia of the external auditory canal Absent ear canal 0000413 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Dolichocephaly Long, narrow head Tall and narrow[rarediseases.info.nih.gov]
Hyperextensible Joints
  • Other features of lateral meningocele syndrome can include low muscle tone (hypotonia) during infancy, decreased muscle bulk, loose ( hyperextensible ) joints that can lead to dislocations, and protrusion of organs through gaps in muscles ( hernias ).[elbiruniblogspotcom.blogspot.com]
Low Set Ears
  • Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears.[malacards.org]
  • Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance.[ncbi.nlm.nih.gov]
  • Facial features include midface hypoplasia, downslanting palpebral fissures, hypertelorism, ptosis, low-set ears, malar hypoplasia, a high narrow palate, micrognatnia and cleft palate. read more[ctgt.net]
  • LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance.[uniprot.org]
Hearing Impairment
  • Showing of 59 80%-99% of people have these symptoms Atresia of the external auditory canal Absent ear canal 0000413 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Dolichocephaly Long, narrow head Tall and narrow[rarediseases.info.nih.gov]
  • He was diagnosed with moderate bilateral conductive hearing impairment; hearing aids were prescribed. He has left amblyopia. Cardiac status has been stable.[ashg.org]
Narrow Face
  • face Decreased breadth of face Decreased width of face [ more ] 0000275 Posteriorly rotated ears Ears rotated toward back of head 0000358 Ptosis Drooping upper eyelid 0000508 Wormian bones Extra bones within cranial sutures 0002645 30%-79% of people[rarediseases.info.nih.gov]
Short Neck
  • neck Decreased length of neck 0000470 Smooth philtrum 0000319 Umbilical hernia 0001537 5%-29% of people have these symptoms Arnold-Chiari malformation 0002308 Bicuspid aortic valve Aortic valve has two leaflets rather than three 0001647 Cryptorchidism[rarediseases.info.nih.gov]
Delayed Development of Motor Skills
  • Delayed development of motor skills in infancy, such as sitting and crawling, often occurs in this disorder; intelligence is usually unaffected.[elbiruniblogspotcom.blogspot.com]

Workup

Increased Bone Density
  • bone density in skull * Thickened calvaria * Flattened cheeks * Narrow palate * Wormian bones * Undescended testes * Loose joints * Reduced muscle tone * Developmental delay Causes - Lateral meningocele syndrome Not supplied.[checkorphan.org]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment and prognosis Symptomatic treatment for lateral meningoceles may require surgical intervention for large lesions. History and etymology Lateral meningocele syndrome was first described in 1977 by Lehman et al 4.[radiopaedia.org]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Treatment - Lateral meningocele syndrome Not supplied. Resources - Lateral meningocele syndrome Not supplied.[checkorphan.org]

Prognosis

  • The prognosis is good in general. I considered it a win compared to some if the other syndromes she could have had... Definitely Google Lateral Meningocele Syndrome.[rareshare.org]
  • Treatment and prognosis Symptomatic treatment for lateral meningoceles may require surgical intervention for large lesions. History and etymology Lateral meningocele syndrome was first described in 1977 by Lehman et al 4.[radiopaedia.org]
  • Prognosis - Lateral meningocele syndrome Not supplied. Treatment - Lateral meningocele syndrome Not supplied. Resources - Lateral meningocele syndrome Not supplied.[checkorphan.org]
  • In addition to the reported incidence, congenital ASM and dorsal lumbosacral meningocele differ from one another with respect to their pathogenesis, presentation, prognosis for neurologic improvement, and surgical approaches.[clinicalgate.com]

Etiology

  • Lateral meningocele syndrome is a rare disorder of unknown etiology, first described in 1977 and subsequently reported in nine other patients.[ncbi.nlm.nih.gov]
  • Although the precise event is not clearly defined, evidence for a vascular etiology exists. 14, 18, 19 In addition to anomalies of the conus medullaris, sacral nerve roots, and sacral dura mater, the clinical manifestations of these patterns of maldevelopment[clinicalgate.com]
  • Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom. 2006;46(2):55-67. 11. Copp AJ, Adzick NS, Chitty LS, Fletcher JM, Holmbeck GN, Shaw GM. Spina bifida. Nat Rev Dis Primers. 2015;1:15007. 12.[revpediatria.sld.cu]
  • The etiology and duration of the episodes and if they are accompanied by bradychardia. Treatment If apnea, stridor, swallowing difficulties. Abnormal neurophysiological studies Indicated before correcting tethered cord, scoliosis, and syringomyelia.[surgicalneurologyint.com]

Prevention

  • Prevention - Lateral meningocele syndrome Not supplied.[checkorphan.org]
  • To perform this procedure, an 8-Fr Foley catheter was inserted into the ostomy of the distal colon and the balloon was inflated with 2 ml of air just beneath the skin surface to prevent leakage.[appliedradiology.com]
  • Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom. 2006;46(2):55-67. 11. Copp AJ, Adzick NS, Chitty LS, Fletcher JM, Holmbeck GN, Shaw GM. Spina bifida. Nat Rev Dis Primers. 2015;1:15007. 12.[revpediatria.sld.cu]
  • The objective of the surgery is to Prevent infection by covering the exposed tissue and repairing the cerebro spinal fluid (CSF) fistula. Preserve neurological function.[surgicalneurologyint.com]
  • Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded- endpoints trial. Lancet 2010; 376(9751): 1476-84. 75. Germain DP. Ehlers-Danlos syndrome type IV.[ijnl.tums.ac.ir]

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