What is Mondini malformation?
Mondini deformity refers to the absence of the apical modiolus and interscalar septum, resulting in an incomplete partitioning of the cochlea together with an enlarged vestibular aqueduct (EVA) and dilated vestibule.
What is a CDF leak?
The spinal cord and CSF are surrounded by three layers of membranes. A CSF leak occurs when there is a hole or tear in the outermost layer of these membranes (dura mater), which allows some of the fluid to escape.
What causes Mondini malformation?
This is a congenital (present at birth) cause of hearing loss. A Mondini malformation occurs when there is a disruption in the development of the inner ear during the seventh week of gestation. This may affect one or both ears and may be isolated or occur with other ear malformations or syndromes.
What are the symptoms of Pendred syndrome?
The most common symptoms of Pendred syndrome include:
- Hearing loss or deafness (often at birth and progressive)
- Goiter (swollen thyroid at the base of the neck)
- Enlarged vestibular aqueduct (inner ear malformation)
- Hypothyroidism (underactive thyroid gland)
- Speech impairment.
- Electrolyte/homeostasis imbalance.
Is a spinal CSF leak serious?
Also, CFS in the spine can leak into muscles and connective tissue surrounding the spinal column. A CSF leak is a serious issue that can cause complications such as headaches, meningitis, and seizures.
Can a CSF leak cause permanent damage?
Untreated CSF leaks can lead to life-threatening meningitis, brain infections, or stroke. UT Southwestern specialists offer rapid, accurate diagnosis of this dangerous condition, world-class surgical services to correct it, and pre- and post-surgical care that optimizes each patient’s treatment and recovery.
What is modiolus in ear?
The modiolus is a conical shaped central axis in the cochlea. The modiolus consists of spongy bone and the cochlea turns approximately 2.75 times around the central axis in humans. The cochlear nerve, as well as spiral ganglion is situated inside it.
What is it like to live with Pendred syndrome?
Children who are born with Pendred syndrome may begin to lose their hearing at birth or by the time they are three years old. Usually, their hearing will worsen over time. The loss of hearing often happens suddenly, although some individuals will later regain some hearing.
Is Pendred syndrome progressive?
Diagnosis. People with Pendred syndrome present with a hearing loss either at birth or during childhood. The hearing loss is commonly progressive.
What is Laurence moon syndrome?
Summary. Laurence-Moon syndrome (LNMS) is a genetic condition that results in a complex association of problems that affect several different body parts. People with LNMS may have difficulties with functions of the brain, eyes, ears, stomach, kidneys, hands and feet.
What is Behr syndrome?
Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability.[2412][11767] Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene.
Can a CSF leak be fatal?
A cranial CSF leak results in a runny nose and carries a high risk of meningitis, an inflammation of the membrane around the brain and spinal cord, which can be fatal and requires emergency attention.
Terminology The term is often used inappropriately to describe any cochlear abnormality, rather than a specific t… Mondini malformation is a historical term used to describe an incomplete partition type II anomaly with large vestibular aqueduct.
Is there a link between cochlear hypoplasia and Mondini malformation?
Some publications have suggested a link between Mondini malformation and spontaneous CSF fistulae and meningitis; however, this appears to be only the case with more severe forms of cochlear hypoplasia, and not with a true isolated Mondini malformation 1,4. ADVERTISEMENT: Supporters see fewer/no ads
What is the pathophysiology of deafness caused by Mondini dysplasia?
The deafness is associated with an abnormality of the bony labyrinth (Mondini dysplasia or dilated vestibular aqueduct) diagnosed by computed tomography (CT) examination of the temporal bones. Vestibular function is abnormal in the most affected persons.
Is Mondini dysplasia associated with thalidomide?
Associations Mondini dysplasia has been associated with thalidomide and rubella embryopathies as well as a number of syndromes: Pendred syndrome: bilateral sensorineural hearing loss and goiter 3,5