Some months, the 12th comes and goes, and I don’t even really notice. Other months, I feel it a lot, even if it’s not a significant month. Sooo, today’s the 12th, and I’m feeling it - probably b/c the gals at SSFKnits were asking about Paul last night. When I got up this morning, I was thinking about the morning he was born. If he had lived, Paul would have been 15 months old today.
In honor of that, here is some information about his different medical conditions:
TETRALOGY OF FALLOT
What It Is
Tetralogy of Fallot has four key features. A ventricular septal defect (a hole between the ventricles) and many levels of obstruction from the right ventricle to the lungs (pulmonary stenosis) are the most important. Also, the aorta (major artery from the heart to the body) lies directly over the ventricular septal defect, and the right ventricle develops thickened muscle.
Because the aorta overrides the ventricular defect and there’s pulmonary stenosis, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body. Sometimes the pulmonary valve is completely obstructed (pulmonary atresia). Infants and young children with unrepaired tetralogy of Fallot are often blue (cyanotic). The reason is that some oxygen-poor blood is pumped to the body.
Surgical Treatment
Tetralogy of Fallot is treated surgically. A temporary operation may be done at first if the baby is small. Complete repair comes later. Sometimes, the first operation is a complete intracardiac repair.
[For more information, click here.]
VCFS
What is velocardiofacial syndrome?
Velocardiofacial Syndrome might be referred to by other names including Shprintzen Syndrome, Craniofacial Syndrome, or Conotruncal Anomaly Face Syndrome.
The name Shprintzen Syndrome comes from physician Dr. Robert Shprintzen of the Center for Craniofacial Disorders, who, in 1978, described a series of 12 children with a cleft palate (incomplete closure of the roof of the mouth), heart defects (abnormalities of the heart from the time of birth) and similar facial characteristics.
The name Velocardiofacial Syndrome comes from the Latin words “velum” meaning palate, “cardia” meaning heart, and “facies” having to do with the face thus incorporating the most common features of cleft palate, heart defects, and a characteristic facial appearance.
Other common findings include minor learning problems and speech and feeding problems.
Since the initial description of this syndrome, many other parts of the body have been reported to be involved.
Many of the systems that influence the development of a child such as the:
- immunologic system (helps to fight off infections);
- endocrine system (the series of glands that secrete important compounds called hormones for normal growth and development); and
- neurological system (brain control centers for learning, speech and hearing, and moods) have also been reported to be affected.
The Velocardiofacial Syndrome Education Foundation Center for the Diagnosis, Treatment and Study of VCF Syndrome currently lists 185 reported findings in patients with velocardiofacial syndrome. It is important to realize none of these occurs 100 percent of the time.
It has also been realized that children with velocardiofacial syndrome are born with these features and that they do not progress over time. This comprehensive list serves as a guide for evaluating each individual to determine which areas may be affected so that the most complete therapeutic interventions can be provided to the child and their families.
[For more information, click here.]
DANDY-WALKER MALFORMATION/SYNDROME
The Dandy-Walker syndrome is a malformation of the brain that involves the maldevelopment of the cerebellum (hindbrain), associated with a cystic enlargement of this area, and frequently hydrocephalus. This malformation occurs in approximately one in 25,000 babies. It accounts for approximately 1 - 4% of cases of hydrocephalus and is seen more frequently in females than in males. There are a spectrum of abnormalities in this area that resemble the Dandy-Walker malformations. This may help explain why some of the newer descriptions of this abnormality refer to posterior fossa cysts and cyst-like formations rather than the classic Dandy-Walker malformation.
The normal structures in the back of the brain include the cerebellum which lies on top of the brain stem and encloses a space referred to as the fourth ventricle. This space connects the ventricles of the upper brain (the cerebrum) through a narrow canal called the aqueduct of Sylvius. Normally, cerebrospinal fluid (CSF) flows from the interior of the cerebrum through this canal through the fourth ventricle to bathe the outside of the brain and the spinal cord. In the Dandy-Walker malformation, the cerebellum is poorly developed, and a large cyst of CSF develops in this area. This cyst may lift up and displace the back portion of the brain as well as cause an internal obstruction of the normal flow of CSF with resultant hydrocephalus.
These patients may have other abnormalities in the development of the brain, including decreased connections from one side of the cerebrum to the other side. Developmental malformations outside the nervous system may occur in approximately 30% of these patients. These other malformations include cleft lip, cleft palate, cardiac malformation, orthopedic and respiratory problems, and urinary structural abnormalities.
The majority of patients who have the classic Dandy-Walker malformation are usually diagnosed within the first year of life. The symptoms tend to be related to hydrocephalus and increased intracranial pressure. Many of these infants will present with a large head as well as a bulging fontanelle (soft spot). The baby may have weak neck muscles along with poor head control and spasticity.
In older children, the clinical picture may involve delayed development, including inability to walk or poor coordination. Seizures may occur in 20 - 30% of these patients. Delay in intellectual development is a common feature of the Dandy-Walker malformation.
The Dandy-Walker malformation is surgically treatable. The available treatment requires that a shunt from the interior of the brain or cyst is inserted to allow the continuous drainage of the blocked non-flowing CSF. This shunt is a detour or bypass procedure that is made by placing a catheter in the ventricles, in the interior of the brain, or in the posterior fossa cyst. The fluid drainage is accomplished with a pressure-controlled valve, and usually the fluid is drained into the abdominal cavity where it is reabsorbed along the belly wall. The MRI scan is very important to the surgeon because it shows the surgeon which space should be shunted first. If the two spaces do not connect, then the surgeon must place a catheter in the ventricular space as well as in the posterior fossa cyst. Usually, the surgeon will connect both catheters to the same valve.
The primary malformation of the brain, however, cannot be corrected, and these patients continue to have problems with motor coordination and balance as well as with learning to walk. In 35 - 70% of these children, difficulties in learning (especially school work that requires reasoning) may occur. Workers in many fields must follow up the health, education, and development of these children. Pediatricians, pediatric neurologists, pediatric neurosurgeon, geneticists, physical therapists, and educational specialists may be required to systematically follow these children and work towards the best development of the child.
