Encephalocele

Overview
Encephalocele - rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull.

Symptoms
Symptoms include: hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence.

Tests/Diagnosis
Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations.

Some encephaloceles are diagnosed in utero with ultrasound.  Usually an amniocentesis is also offered to detect genetic involvement.  A fetal MRI is the best test to understand brain involvement in the encephalocele.

Treatments
Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability (if the encephalocele contains mostly CSF). Hydrocephalus associated with encephaloceles may require surgical treatment with a shunt. Other treatment is symptomatic and supportive (palliative).

Resources
Facebook - Encephalocele mommies and daddies and Encephalocele Support
http://www.ninds.nih.gov/disorders/encephaloceles/encephaloceles.htm

Personal Story

Our little girl, Grace, was diagnosed at 20 weeks gestation with an occipital encephalocele (the back of her skull).  It contained mostly CSF and approximately 10% of her cerebellum.  She was born at 39 weeks, weighing 7 lb, 1 oz and was otherwise healthy.  She had surgery to remove the (large) encephalocele when she was 5 days old.  She also had a VP shunt placed after she developed hydrocephalus when she was 2.5 months old.  She started physical, occupational, and speech therapies after her shunt surgery.  She is now 15 months old, and is developmentally delayed, but is meeting milestones at her own pace.  Other diagnoses she has are microcephaly and agenesis of the corpus callosum.

Contributed by MOM Karen - To read more about Grace check out her BLOG