SNP Shot: Genomic Insights

Lateral meningocele syndrome is a rare condition affecting various body systems, including the nervous system, musculoskeletal system, and others. A hallmark of this syndrome is the presence of lateral meningoceles. These are bulges or sacs formed by the meninges (membranes surrounding the spinal cord) that protrude through openings in the vertebrae (spinal bones). These protrusions are most frequently observed and are generally larger in the lower (lumbar) spine.

Lateral meningoceles in this syndrome can damage spinal nerves, which extend from the spine to the rest of the body. Damage to the nerves controlling bladder function, known as neurogenic bladder, can lead to progressive difficulty with urinary control. Other potential symptoms include prickling or tingling sensations (paresthesias), gradually worsening stiffness and weakness in the legs (paraparesis), and back pain. Infants with this condition may experience delayed motor development, such as delays in sitting and crawling. Intelligence is typically not affected.

Additional characteristics of lateral meningocele syndrome may include low muscle tone (hypotonia) in infancy, reduced muscle mass, overly flexible (hyperextensible) joints prone to dislocations, and hernias (organ protrusion through muscle gaps). Spinal abnormalities are also common, such as scoliosis (sideways curvature of the spine), fusion of vertebrae, and unusually shaped (scalloped) vertebrae.

Individuals with lateral meningocele syndrome often exhibit a recognizable pattern of facial features. These may include high, arched eyebrows; widely spaced eyes (hypertelorism); eyes that slant downward (downslanting palpebral fissures); and droopy eyelids (ptosis). They might also have a flattened midface and cheekbones (midface and malar hypoplasia); low-set ears; a long philtrum (the area between the nose and mouth); a thin upper lip; a high, narrow palate, sometimes with a cleft palate; a small jaw (micrognathia); coarse hair; and a low hairline at the nape of the neck.

Other potential signs and symptoms associated with lateral meningocele syndrome can include a high-pitched and nasal voice, hearing loss, heart or genitourinary abnormalities, feeding difficulties, trouble swallowing (dysphagia), and gastroesophageal reflux (GERD), which is the backflow of stomach acid into the esophagus.

Inheritance:

Lateral meningocele syndrome follows an autosomal dominant inheritance pattern. This means that having just one copy of the mutated gene in each cell is enough to cause the condition. In the majority of cases, the syndrome arises from new, spontaneous gene mutations, occurring in individuals with no prior family history of the disorder. Less frequently, the mutation is inherited from an affected parent.