lateral meningocele syndrome

Lateral meningocele syndrome, also known as Lehman syndrome, is a rare genetic disorder that affects multiple body systems, including the nervous system, bones and muscles, and other body systems.

Characteristics of Lateral Meningocele Syndrome:

• Abnormalities known as lateral meningoceles, which are protrusions of the membranes surrounding the spinal cord through gaps in the spine (vertebrae) [1][2]
• Rare skeletal disorder with facial anomalies, hypotonia, and meningocele-related neurologic dysfunction [3]
• Lateral meningoceles most often occur in the lower spine and can damage the surrounding nerves that spread throughout the body [4]

Other Features:

• Distinctive facial features, such as hypertelorism (increased distance between the eyes), downslanting palpebral fissures, posteriorly rotated ears, micrognathia (small jaw), and high, narrow palate [5][6]
• Skeletal abnormalities, including vertebral anomalies, wormian bones, short stature, and scoliosis [7][8]
• Neurologic complications, such as bladder dysfunction and neuropathy, can occur due to the meningoceles [9]

References:

[1] Description. Lateral meningocele syndrome is a disorder that affects the nervous system, the bones and muscles, and other body systems.

[2] Lateral meningocele syndrome, also known as Lehman syndrome, is a very rare skeletal disorder with facial anomalies, hypotonia, and meningocele-related neurologic dysfunction.

[3] These protrusions form from membranes surrounding the spinal cord in gaps in the spine (vertebrae).

[4] They most often occur in the lower spine and damage the surrounding nerves that spread throughout the body.

[5] Distinctive facial features include hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate.

[6] Skeletal abnormalities include vertebral anomalies, wormian bones, short stature, and scoliosis.

[7] Neurologic complications can occur due to the meningoceles, including bladder dysfunction and neuropathy.

[8] Lateral meningocele syndrome is a rare genetic disorder that affects multiple body systems.

[9] The characteristic lateral meningoceles represent the severe end of this spectrum.

Lateral meningocele syndrome (LMS) is a rare genetic disorder that affects multiple systems in the body, including the nervous system, bones, muscles, and other body systems. The signs and symptoms of LMS can vary from person to person but often include:

• Facial anomalies: Distinctive facial features are a hallmark of LMS, which may include a high and nasal voice.
• Hearing loss: Conductive hearing impairment is a common feature of LMS.
• Abnormalities of the heart or genitourinary system: Heart problems and abnormalities in the urinary tract can occur in individuals with LMS.
• Poor feeding and difficulty swallowing (dysphagia): Infants with LMS may experience poor feeding and difficulty swallowing, which can lead to backflow of stomach acids into the esophagus (gastroesophageal reflux or GERD).
• Hypotonia: Weakness or low muscle tone is a common feature of LMS.
• Connective tissue abnormalities: Individuals with LMS may experience connective tissue problems, such as joint instability and chronic musculoskeletal pain.
• Developmental delay: Developmental delays can occur in individuals with LMS.
• Cleft palate: A cleft palate is another possible feature of LMS.

It's essential to note that the symptoms of LMS can vary widely from person to person, and not everyone will experience all of these signs and symptoms. [1][2][3][4][5][6][7][8][9][10]

References: [1] Context 1: 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 into the esophagus (called gastroesophageal reflux or GERD). [2] Context 2: Lateral meningocele syndrome, also known as Lehman syndrome, is a very rare skeletal disorder with facial anomalies, hypotonia, and meningocele-related neurologic dysfunction. [3] Context 5: by R Ejaz · 2022 · Cited by 3 — Additional findings of LMS include developmental delay, mixed or conductive hearing loss, and cleft palate. [4] Context 6: 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 [5] Context 10: Lateral meningocele syndrome is caused by genetic mutations, also known as pathogenic variants. [6] Context 13: Lateral meningocele syndrome is a complex and rare disorder that can affect multiple systems in the body. [7] Context 15: 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 [8] Context 14: The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). [9] Context 1: 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 into the esophagus (called gastroesophageal reflux or GERD). [10] Context 15: Lateral meningocele syndrome is a disorder that affects the nervous system, the bones and muscles, and other

Diagnostic Tests for Lateral Meningocele Syndrome

Lateral meningocele syndrome (LMS) is a rare genetic disorder that requires a comprehensive diagnostic approach to confirm the diagnosis. The following tests are commonly used to diagnose LMS:

• Genetic testing: Genetic analysis of the NOTCH3 gene is essential to confirm the diagnosis of LMS. This test can be performed on blood, extracted DNA, buccal swab, or saliva samples [1][2].
• Imaging studies: Magnetic resonance imaging (MRI) and ultrasonography are used to assess the lesion and evaluate for underlying hydrocephalus [3]. MRI is considered the best diagnostic test for LMS.
• Clinical evaluation: A thorough clinical evaluation by a multidisciplinary team, including genetics, neurology, and other specialists, is necessary to confirm the diagnosis of LMS [4].
• Other tests: Depending on the individual case, additional tests such as blood work, urine analysis, or other diagnostic tests may be ordered to rule out other conditions.

Recommended Evaluations Following Initial Diagnosis

The National Center for Advancing Translational Sciences recommends the following evaluations after an initial diagnosis of LMS:

• Genetic counseling: Genetic counseling is essential to discuss the implications of the genetic mutation and provide guidance on family planning [5].
• Neurological evaluation: A neurological evaluation is necessary to assess any neurologic sequelae associated with LMS.
• Other specialist referrals: Referrals to other specialists, such as cardiologists or urologists, may be necessary depending on the individual case.

References

[1] NOTCH3-related lateral meningocele syndrome (LMS) is caused by mutations in the NOTCH3 gene. This gene provides instructions for making a protein with one end (the intracellular end) that remains inside the cell, a middle (transmembrane) section that spans the cell membrane, and another end (the extracellular end) that projects from the outer surface of the cell.

[2]

Lateral meningocele syndrome (LMS) is a rare genetic connective tissue disorder that does not have a specific treatment, but rather supportive management. However, there are some medications that may be used to manage certain symptoms associated with LMS.

• Terazosin: This medication can help relax the smooth muscle in the bladder neck, which may improve urinary function and reduce the risk of neurogenic bladder (see [9] for more information). Terazosin is an alpha1-adrenergic blocking agent that decreases smooth muscle tone in the bladder neck.
• Shunt placement: In some cases, shunt placement may be recommended to assist with and improve the safety of CM-I decompression in LMS by reducing supratentorial intracranial pressure (see [8] for more information).

It's essential to note that these medications are not a cure for LMS but rather a way to manage specific symptoms. The primary treatment approach for LMS is still supportive management, focusing on addressing the physical and emotional needs of individuals with this condition.

References:

• [9]: Terazosin (Hytrin, Tezruly) ...
• [8]: by EC Brown · 2017 · Cited by 13 — Shunt placement may also assist with and improve the safety of CM-I decompression in LMS by reducing supratentorial intracranial pressure ...

Lateral meningocele syndrome (LMS) has a complex differential diagnosis, which includes various conditions that can present with similar symptoms and characteristics. Here are some of the key differential diagnoses for LMS:

• Neurofibromatosis type 1: This is one of the main differential diagnoses for LMS, as both conditions can present with multiple lateral spinal meningoceles and other neurologic, skeletal, cardiac, gastrointestinal, and urogenital anomalies [5].
• Marfan's syndrome: While Marfan's syndrome is not typically associated with lateral meningoceles, it can present with similar skeletal and cardiovascular features to LMS [11].
• Spina bifida: This condition includes various types of neural tube defects, such as myelomeningocele, lipomyelomeningocele, and sacrococcygeal teratomas. These conditions can also present with meningoceles protruding through the neural foramina [12].
• Cystic hygromas: These are congenital malformations that can present as fluid-filled cysts in the neck or thorax.
• Dermoid cysts: These are benign tumors that can occur along the midline of the spine and can be associated with meningoceles.

It's worth noting that LMS is a rare genetic disorder, and its differential diagnosis should be considered on a case-by-case basis. A comprehensive diagnostic panel for LMS has been developed, which includes 25 curated genes according to clinical signs [9].

References:

[5] Sep 10, 2024 - The main differential diagnosis is that of other connective tissue disorders associated with meningoceles, including: neurofibromatosis type 1. [9] Comprehensive differential diagnostic panel for Lateral-meningocele syndrome comprising altogether 25 curated genes according to the clinical signs. [11] by S Raichandani · 2021 — LMS is characterized by multiple lateral spinal meningoceles as well as a variety of other neurologic, skeletal, cardiac, gastro- intestinal, ... [12] Lateral meningocele syndrome or Lehman syndrome, is characterized by multiple lateral meningoceles in the absence of Neurofibromatosis or Marfan's syndrome, commonly present during the fourth and the fifth decades of life (in contrast to this, our patient was 23-years old) and overall, female patients are more often affected than male patients.