Neurological
Neurological Challenges in Individuals with Emanuel Syndrome
Children with Emanuel Syndrome can experience both functional and structural neurological differences. Functional neurological issues have to do with the nervous system and how the body receives signals from the brain, for example when someone experiences seizures. Structural issues are things such as differences in how the brain develops, or if there are malformations or injuries.
Functional Neurological Findings
Hypotonia
The most common neurological problem, seen in over 60% of children with Emanuel Syndrome, is a condition called hypotonia, which means low muscle tone. It has been reported in many published cases and also reported by many of our members. This affects the development of motor skills and can cause children to have hyperflexible joints, problems with drooling, feeding and poor posture. If your child has hypotonia, early physiotherapy is essential to help your child reach their full potential. Children with hypotonia will be later in reaching their milestones such as lifting their head, rolling, sitting up and walking.
“Phoenix has low toned muscles, especially in the upper limbs. He gets tired very easily from doing daily tasks. He attends therapies several times a week to build up his strength and keep the pathways of the muscles firing to the brain.”
To learn more about hypotonia, you can visit…this page of Boston Children’s Hospital
Seizures See our separate page
Structural neurological findings in children with Emanuel Syndrome
- Microcephaly (smaller than usual head) is seen in children with ES
- Ventriculomegaly (enlargement of the ventricles of the brain)
- Brain atrophy (loss of brain cells)
- Absent or hypoplastic corpus callosum (the corpus callosum is the band of white matter that connects the two hemispheres of the brain)
- White matter abnormalities
- Dandy-Walker Malformation (a brain malformation that involves a partial or complete absence of the area between the cerebellar hemispheres and a cyst that forms near the base of the skull) has been reported in several publications as well as our members. Get support Dandy-Walker.org
- Chiari Malformation (structural defects of the cerebellum) Learn more from National Organization for Rare Disorders
- Hydrocephalus (an abnormal accumulation of cerebrospinal fluid on the brain) Learn more from Children’s Hospital of Philadelphia
Other uncommon brain differences reported in the medical literature include:
- Pons hypoplasia
- Dilatation of the third and fourth ventricles
- Trigonocephaly
- Loss of cerebral volume
- Cerebellar vermis hypoplasia or agenesis
- Cerebral atrophy
- Absent olfactory nerves
- Lumbosacral meningomyelocele
- Hippocampal malrotation
Skull differences:
- Craniosyostosis
- Coronal suture fusion
“Phoenix was diagnosed with hydrocephalus as a result of Chiari 1 malformation of the brain and skull at 1 year of age. He had a VP shunt placed and will have one for life. After discharge from surgery Phoenix’s shunt malfunctioned. He suffered some damage to the brain and lost most of his fine motor skills. He gets regular MRIs to check there are no new changes to the spine and skull.”
Tethered Spinal cord
A tethered spinal cord is a treatable condition. It occurs when the tissue around the spine is attached to the spinal cord, and this can impact the ability of the spinal cord to move freely. It can cause pain and other symptoms, and typically, surgery is used to treat it.
Signs of a tethered spinal cord, one of which may include a sacral dimple, a common finding in our children, can be found on the Seattle Children’s Hospital website. Sacral dimples are common and are not always associated with a tethered cord.
There are cases reported of children with Emanuel syndrome having a tethered spinal cord:
“Chiara was born with a sacral dimple, which was discovered by MRI to be a tethered spinal cord. At age 4 she had a laminectomy to release it – we couldn’t be sure if it was interfering with walking and toileting, so decided the benefits outweighed the risks. Hospital stay for about 4 days, this was when we figured out that morphine keeps her awake and agitated. The picture is of surgery site 2 days out, stitches inside staples outside, also you can see where they placed the epidural.”
You will be able to connect with our members to talk about these issues. Connect with us here.
Reference
Carter, M. T., St Pierre, S. A., Zackai, E. H., Emanuel, B. S., & Boycott, K. M. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. American Journal of Medical Genetics. Part A, 149A(8), 1712–1721. https://doi.org/10.1002/ajmg.a.32957