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CONGENITAL & DEVELOPMENTAL DISORDERS OVERVIEW

Congenital anomalies are the product of errors in "embryogenesis" (malformations consequent to errors in the developmental stages of the embryo) or the result of intrauterine events that affect embryonic and fetal growth (deformations and disruptions). As a general rule, it is apparent that the more complex the formation of a structure, the more opportunities for malformation.

Some of the most serious neurological abnormalities affect the Brain (conditions that are reviewed elsewhere on this website) develop in the first two months of gestation and represent defects in neural tube (the embryonic precursor of the entire central nervous system) formation. The medical term for this is "dysraphia". Some of these affect the Spine and the Spinal Cord as well.

Modern investigative methods, such as amniocentesis and ultrasonography may provide an accurate in utero detection of many malformations. Genetic counseling for parents of a child with a major neurological abnormality is important, since the risk of a subsequent child's having such a defect is high. These parents frequently also need psychological help and support.

WOMEN WHO HAVE HAD A PREGNANCY RESULTING IN AN INFANT OR FETUS WITH A NEURAL TUBE DEFECT SHOULD BE ADVISED THAT FOLIC ACID SUPLEMENTATION (4 MG/DAY) BEFORE CONCEPTION AND DURING EARLY PREGNANCY MAY SUBSTANTIALLY REDUCE THE RISK OF NEURAL TUBE DEFECTS IN SUBSEQUENT PREGNANCIES.


SPINE and SPINAL CORD ABNORMALITIES

Congenital deformities of the spine are caused by anomalous vertebral development in the embryo. Minor malformations of the spine are seldom apparent and often are identified only on routine chest films which may be done in infancy, childhood or later in life for reasons unrelated to a spine problem.

More severe congenital malformations resulting in progressive Scoliosis (an abnormal rotation of the Spine) are even less common than are Idiopathic Scoliosis ("Idiopathic" means "without a known cause").

Congenital Anomalies of the Spine may be simple and benign, causing no spinal deformity, or they may be complex, causing severe spinal deformity or even a severe problem lung and heart problem (Cor Pulmonale) because of the extreme scoliosis causing a chest deformity or paraplegia.

The 3 major patterns of congenital spinal deformity are hyperlordosis, kyphosis and scoliosis. Congenital Scoliosis may have marked rotation (Kyphoscoliosis) or True Kyphosis in which rotation is not a major component of the deformity.

Kyphosis is a progressive spinal disorder that can affect children or adults which may cause a deformity described as "humpback" or "hunchback". Kyphosis can be in the form of "hyperkyphosis" (excessive curvature exceeding the normal range which occurs in the thoracic spine) or "sharp angular gibbus" deformity (a form of structural kyphosis in which the posterior curve is angled sharply rather than smooth.) Abnormal kyphotic curves are more commonly found in the Thoracic or Thoracolumbar Spine, although they can be Cervical.

Scheuermann's Disease

Scheuermann's Disease is juvenile (adolescent) thoracic kyphosis associated with decreased intervertebral disc space and vertebral wedging. The classic definition of Scheuermann's Disease involves anterior (front) wedging of three consecutive vertebrae to at least 5 degrees. This results in an excessive thoracic spine curve which makes it very stiff or rigid. This condition is usually first noticed between the ages of 12 and 15 years with pain is a common first complaint. The neck and head may take an abnormally forward position.

The exact cause is not known, however, there is evidence that suggests a hereditary component. It affects females more often than males.

CAUTIONS

The documents that follow in this Section on Congenital Anomalies describe some disease states which carry with them some significant risks to serious Neurological deficits as well as death. The caution listed below is important.

ALL PATIENTS WITH CONGENITAL CERVICAL FUSION SHOULD AVOID BODY CONTACT SPORTS AS WELL AS ANY RECREATIONAL ACTIVITIES THAT MAY PUT THEM AT RISK FOR HEAD TRAUMA.

THE POTENTIAL FOR CATASTROPHIC OUTCOMES WITH THESE STRUCTURAL ABNORMALITIES IS VERY REAL AND MUST BE KEPT IN MIND THROUGHOUT THE LIFE OF THE AFFECTED INDIVIDUAL.

LONG TERM FOLLOW UP IS HIGHLY RECOMMENDED. PATIENTS AND HIS/HER FAMILY MUST BE CAREFULLY AND FULLY COUNSELLED.


ADDITIONAL INFORMATION

National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100
Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291


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This page last edited on 2/19

All content ©2016 by Neurosurgical Consultants, P.A.
Author, Martin L. Lazar, MD, FACS
All Rights Reserved. See Usage Notices.