We present a case of a 5-month-old girl who presented with macrocephaly, developmental delay, and failure to thrive. [pediatricneurosciences.com]

We also present a review of the literature about this entity. [jmedicalcasereports.biomedcentral.com]

Genotype-phenotype correlations: Given the rarity of the condition in published literature, genotype-phenotype correlations are presently unknown. [fdna.health]

Keywords Lateral meningocele multiple menigocoele spinal dysraphism INTRODUCTION Lateral meningocele is a rare presentation of spinal dysraphism characterized by extensions of the dura and arachnoid through an enlarged neural foramen.[1–10] In the present [clinicalimagingscience.org]

Young neurosurgeons who had never seen such a m- formation at its initial presentation were hesitant, and did not understand the protean clinical signs of these patients presenting to the emergency department or outpatient clinics. [books.google.com]

• Weakness

  Lateral meningocele syndrome (LMS) is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. [ncbi.nlm.nih.gov]

  In some cases, these lateral meningoceles can cause pain and discomfort due to their presence within retroperitoneal tissues or cause direct compression of the spinal nerve root exiting the foramen; in some cases compression may also involve motor weakness [ohsu.pure.elsevier.com]

  Prickling or tingling sensations (paresthesias), progressive stiffness and weakness in the legs (paraparesis), and back pain can also occur. [malacards.org]

  Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness [genome.jp]

• Weight Gain

  Infants may demonstrate feeding difficulties with poor weight gain. Management. [ncbi.nlm.nih.gov]

• Swelling

  After discharge at 2 months of age, parents noted bilateral flank swelling. An ultrasound of the abdomen showed lateral lumbar meningoceles displacing the kidneys and causing the swelling due to deficient posterior wall musculature. [ashg.org]

  Article CAS PubMed Google Scholar Kaur N, Chandra Mishra S, Vijayaragvan P, Minocha VR: Lateral sacral meningomyelocele as a gluteal swelling: an unusual presentation. J Indian Med Assoc. 2005, 103 (10): 554-556. [jmedicalcasereports.biomedcentral.com]

  […] of anterior sacral meningocele during the evaluation of post-hysterectomy pelvic collections. ( 27403027 ) Rondina R.G....Pessanha L.B. 2016 41 Squamous cell carcinoma arising from neglected meningocele. ( 28194302 ) Wani A.A....Lone I. 2016 42 Neck swelling [malacards.org]

  Lateral sacral meningomyelocele as a gluteal swelling: An unusual presentation. J Indian Med Assoc. 2005;103:556. [Google Scholar] Reis C, Carneiro E, Fonseca J, Pereira P, Vaz R, Pinto R,. [clinicalimagingscience.org]

  Lateral sacral meningomyelocele as a gluteal swelling: an unusual presentation. J Indian Med Assoc 2005;103:554-6. 11. Alves D, Sampaio M, Figueiredo R, Leão M. [pediatricneurosciences.com]

• Skin Disease

  NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases [medlineplus.gov]

• Ectopia Lentis

  As the finding of DE is used for the scoring of systemic features when the patients show aortic diseases, but do not have the ectopia lentis, the importance of DE remains in the new criteria. [journals.plos.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 [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]

  Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound. [rarediseases.oscar.ncsu.edu]

She began to experience severe apnea during sleep, which upon multidisciplinary workup was determined to be due to velopharyngeal and oropharyngeal collapse on inspiration, likely unrelated to her intact palatal repair, and was treated with supplemental [thejns.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]

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]

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]

[edit] Currently, there is no treatment for Lehman syndrome. [en.wikipedia.org]

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]

Prognosis - Lateral meningocele syndrome Not supplied. Treatment - Lateral meningocele syndrome Not supplied. Resources - Lateral meningocele syndrome Not supplied. [checkorphan.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]

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]

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]

Relevant literature up to February 2021, retrieved from PubMed, OMIM, CNKI, Wanfang, and CQVIP database with the terms of "lateral meningocele syndrome", " NOTCH3", were reviewed to summarize the clinical characteristics, pathogenesis, and genetic etiology [pesquisa.bvsalud.org]

These authors felt that the previous trauma was of little etiologic significance. The case of lateral intrathoracic meningocele to be recorded here was discovered incidentally by one of us (G. W. [pubs.rsna.org]

[…] interstitial and granulonodulo alveolar pattern 324 Interstitialreticular pulmonary pattern 326 Disseminated interstitial pneumonitis 327 The miliary pattern of pneumonia 328 Short linear andor wedgeshaped densities 329 Pulmonary edema in infancy and childhood Etiology [books.google.com]

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]

[…] is responsible for disintegration of the NCID after it has gone into the nucleus and completed its function.[4] The mutation causes the Notch 3 protein to be in the cell nucleus for a prolonged period of time continuing to affect gene activity.[14] Epidemiology [en.wikipedia.org]

Microscopic evaluation can show ganglion cells and glial nodules as an extension from the central canal that may also be contained within the sac. 3 23.1 Pathophysiology The pathophysiology of meningoceles depends upon the location and position within [neupsykey.com]

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]

Treatment Repair of a posterior meningocele is usually recommended at the time of presentation to prevent subsequent tethering, infection, growth of the sac, and CSF leak. [neupsykey.com]

Antisense oligonucleotides targeting Notch3 and antibodies that prevent the activation of NOTCH3 are being tested in preclinical models of the di...Continue Reading References Feb 28, 1978·Pediatric Radiology·S G KatzR D Strand Jan 1, 1977·The Journal [meta.org]

An awareness of the condition and radiologic proof of its existence will prevent this error. [neurosurgery.tv]