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]
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]
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]
Entire Body System
-
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]
Respiratoric
-
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]
Gastrointestinal
-
Failure to Thrive
Note that a feeding tube may be necessary if persistent feeding difficulties result in failure to thrive. Surveillance No surveillance guidelines for LMS have been published. [ncbi.nlm.nih.gov]
Thepatient had failure to thrive, with normal OFC. He wasdescribed as having anomalies including epicanthalfolds, low-set, and posteriorly angulated ears, micro-gnathia, and a flat nose. [documents.tips]
Jaw & Teeth
-
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]
Patient 2 at 8 years, showing marked thoracic kyphosis andexaggerated lumbar lordosis.Lateral Meningocele Syndrome 237clude proptosis, ptosis and downslanting palpebral fis-sures, maxillary hypoplasia, high arched palate, micro-gnathia, scoliosis, hypotonia [documents.tips]
Skin
-
Ulcer
[…] stomach in infants 476 Antral outlet obstruction of the stomach 477 Coarse mucosal folds or mucosal irregularities of the stomach 478 Pneumatosis or air in the gastric wall 479 Duodenal obstruction with or without its luminal distention 480 Duodenal ulcer [books.google.com]
Musculoskeletal
-
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]
-
Decrease in Height
[…] body height Small stature [ more ] 0004322 Vertebral fusion Spinal fusion 0002948 Showing of 59 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]
Ears
-
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]
Neurologic
-
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
X-Ray
-
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]
-
Bowel Distention
distention 484 Malabsorption patterns of the small bowel 486 Fixed stiff small bowel loops 487 Destruction of the small bowel mucosa 488 Deformation of the terminal ileum 489 Lesions mimikig regional enteritis 490 Abnormalities of the ileocecal valve [books.google.com]
-
Colonic Stricture
stricture or narrowing 496 Segmental colonic narrowing in children 497 Toxic megacolon 498 Distention of the small andor large bowelnonobstructive paralytic ileus 499 Distended large bowel 500 Large bowel obstruction 502 Large retrorectal space 503 Large [books.google.com]
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]
Knowledge of spina bifida and of its treatment, once so richly diffused - ly 30 years ago, began to fade. [books.google.com]
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]
[…] 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]
Hospitals, Mumbai, Maharashtra, India, Poonam Darade 2 Department of Radiology, Grant Government Medical College and Sir JJ Group of Hospitals, Mumbai, Maharashtra, India › Author Affiliations Abstract Lateral meningocele is rare disorder of unknown etiology [thieme-connect.com]
Pathophysiology
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
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]
An awareness of the condition and radiologic proof of its existence will prevent this error. [neurosurgery.tv]
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]