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Congenital Disorders
S. Yudha PatriaPediatrics Dept. Fac. Medicine, Gadjah Mada University,
Yogyakarta
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Terminologi
abnormality that is present at birth
= congenital anomaly
= birth defect
many birth defects are not evident until a child grows
can occur in any major organs and in any part of thebody
can range from minor to severe
many birth defects lead to mental or physical disabilities,
in fact, the leading cause of death in the first year of life
There are over 3,000 different known birth defects
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Epidemiology
3 to 4 percent of all newborns have a
major birth defect
many percent birth defects are not evident
until a child grows or until adults
rate of birth defects reaches about 10
percent by age five
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Etiology
60% of birth defects have an unknown cause
The others are caused by genetic or environmental
factors, or a combination of the two (multifactorial)
The genetic factors:
- chromosomes (aneuploidy, mono-, trisomy, etc)
- gene defect (mono-, poly-)
mendelian, non mendelian
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etiology..
Environmental factor:
- infections: rubella, cytomegalovirus (CMV), syphilis,
toxoplasmosis, Venezuelan equine encephalitis
parvovirus, chicken pox during pregnancy
- poor prenatal care- use of drugs (thalidomide, tetracycline, sulfa, anticancer,
anticonvulsants, hormone supplements, LSD, cocaine, and antipsychosis and
anxiety) or alcohol by the mother during pregnancy
- exposure to chemicals, radiation, or diseases
teratogen: any substance that can cause abnormal
development of the egg in the mother's womb
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etiology ..
Multifactorial factors:
(a combination of genetic and
environmental factors)
neural tube defects
(NTD)
cleft lip and palate
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Symptomatology
Symptoms depend upon the type of birth defect
Symptoms are classified as:
- structural, if they involve a missing body part
(ex: heart defects, spina bifida, cleft lip and/or
palate, hyspospadias)
- metabolic, if they involve a problem in body chemistry
ex: Tay-Sachs disease, phenylketonuria (PKU)
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How is it diagnosed?
Prenatal
screening tests during pregnancy
USG, levels of alpha-fetoprotein (AFP),
amniocentesis, chorionic villus sampling
Natalpost natal
- Screening test- Symptomatology
- Others (karyotyping, immunology, etc)
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Treatment
Depend on the case
Educational
Medicals Surgery
Physiotherapy
Diet etc
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Neural tube defect(NTD)
A neural tube defect
occur in human embryos
there is an interference with the closure of theneural tubethat occurs around the 28th day
after fertilization
The incidence is 2.6 in 1,000 worldwide
http://en.wikipedia.org/wiki/Neural_tubehttp://en.wikipedia.org/wiki/Neural_tube8/12/2019 Congenital Disorders
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Etiology
Pregnant women taking medication for epilepsy
Pregnant women with folic aciddeficiencies
Others:
folate antimetabolites (such as methotrexate),
maternal diabetes, maternal obesity, mycotoxinsin contaminated corn meal, arsenic, and
hyperthermiain early development
http://en.wikipedia.org/wiki/Folic_acidhttp://en.wikipedia.org/wiki/Methotrexatehttp://en.wikipedia.org/wiki/Arsenichttp://en.wikipedia.org/wiki/Hyperthermiahttp://en.wikipedia.org/wiki/Hyperthermiahttp://en.wikipedia.org/wiki/Arsenichttp://en.wikipedia.org/wiki/Methotrexatehttp://en.wikipedia.org/wiki/Folic_acid8/12/2019 Congenital Disorders
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Types o f neural tube defects
Anencephaly
Encephalocele Spina bifida including myelomeningocele
and others
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Anencephaly
anencephalyis a cephalic disorder that occurs when the cephalic(head) end of the neural tube fails to close
resulting in the absence of a major portion of the
brain, skull, and scalp
usually between the 23rd and 26th day of pregnancy
Children with anencephaly are born without a forebrain, and theremaining brain tissue is often exposed - not covered by bone orskin
usually blind, deaf, unconscious, and unable to feel painAlthough some individuals with anencephaly may be born with arudimentary brain stem
http://en.wikipedia.org/wiki/Blindnesshttp://en.wikipedia.org/wiki/Deafnesshttp://en.wikipedia.org/wiki/Unconsciousnesshttp://en.wikipedia.org/wiki/Painhttp://en.wikipedia.org/wiki/Painhttp://en.wikipedia.org/wiki/Unconsciousnesshttp://en.wikipedia.org/wiki/Deafnesshttp://en.wikipedia.org/wiki/Blindness8/12/2019 Congenital Disorders
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Spina Bifida
Spina bifida(Latin: "split spine") is a developmentalbirth defect involving incomplete closure of theembryonic neural tube results in an incompletely formedspinal cord
In addition, the vertebraeoverlying the open portion ofthe spinal cord do not fully form and remain unfused andopen
This allows the abnormal portion of the spinal cord tostick out through the opening in the bones, and may ormay not be a fluid filled sac surrounding the open spinalcord
http://en.wikipedia.org/wiki/Latinhttp://en.wikipedia.org/wiki/Spinal_cordhttp://en.wikipedia.org/wiki/Vertebraehttp://en.wikipedia.org/wiki/Vertebraehttp://en.wikipedia.org/wiki/Spinal_cordhttp://en.wikipedia.org/wiki/Latin8/12/2019 Congenital Disorders
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Epidemiology
average worldwide incidence of 1-2 cases
per 1000 births
certain populations have a significantly
greater risk
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Symptomatology
The most common location of the malformations is the lumbarandsacralareas of the spinal cord
The lumbar nerves control the muscles in the hip, leg, knee and foot,and help to keep the body erect
The sacral nerves control some of the muscles in the feet, boweland urinary bladder, and the ability to have an erection
resulting in varying degrees of paralysis, absence of skin sensation,and poor or absent bowel and/or bladder control as well as
curvature of the spine (scoliosis)
Although these individuals are rarely mentally retarded, in mostcases there are cognitive problems
http://en.wikipedia.org/wiki/Lumbarhttp://en.wikipedia.org/wiki/Sacrumhttp://en.wikipedia.org/wiki/Bowelhttp://en.wikipedia.org/wiki/Urinary_bladderhttp://en.wikipedia.org/wiki/Erectionhttp://en.wikipedia.org/wiki/Scoliosishttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Mental_retardationhttp://en.wikipedia.org/wiki/Scoliosishttp://en.wikipedia.org/wiki/Erectionhttp://en.wikipedia.org/wiki/Urinary_bladderhttp://en.wikipedia.org/wiki/Bowelhttp://en.wikipedia.org/wiki/Sacrumhttp://en.wikipedia.org/wiki/Lumbar8/12/2019 Congenital Disorders
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The types of spina bifida
spina bifida occulta
spina bifida cystica (myelomeningocele),
meningocele
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Spina bifida Occulta
no opening of the back,but the outer part of someof the vertebrae are notcompletely closed
The split in the vertebraeis so small that the spinalcord does not protrude
The skin at the site of thelesion may be normal, orit may have some hair
growing from it; theremay be a dimple in theskin, a lipoma, a dermalsinusor a birthmark
http://en.wikipedia.org/wiki/Lipomahttp://en.wikipedia.org/wiki/Dermal_sinushttp://en.wikipedia.org/wiki/Dermal_sinushttp://en.wikipedia.org/wiki/Birthmarkhttp://en.wikipedia.org/wiki/Image:IMG_0746a.jpghttp://en.wikipedia.org/wiki/Birthmarkhttp://en.wikipedia.org/wiki/Dermal_sinushttp://en.wikipedia.org/wiki/Dermal_sinushttp://en.wikipedia.org/wiki/Lipoma8/12/2019 Congenital Disorders
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Spina bifida cystica
In this, the most serious and common form
the unfused portion of the spinal column allowsthe spinal cord to protrude through an opening inthe overlying vertebrae
The meningeal membranes that cover the spinalcord may or may not form a sac enclosing the
spinal elements form the cyst
Some showed sacrococcygeal teratoma
http://en.wikipedia.org/wiki/Cysthttp://en.wikipedia.org/wiki/Cyst8/12/2019 Congenital Disorders
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Meningocele
The least common form of spina bifida is a posteriormeningocele(or meningeal cyst)
posterior meningocele, the outer faces of some
vertebrae are open (unfused) and the meningesaredamaged and pushed out through the opening,appearing as a sac or cyst which contains cerebrospinalfluid. The spinal cord and nerves are not involved andtheir function is normal
In an anterior meningocele, the inner faces ofvertebrae are affected and the cyst protrudes into theretroperitoneum or the presacral space
http://en.wikipedia.org/wiki/Meningeshttp://en.wikipedia.org/wiki/Meninges8/12/2019 Congenital Disorders
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Treatment
Prevention: folic acid, pregnancy
screening
Curative: desinfection, surgery
Rehabilitative: physiotherapy
Habilitative: special needs, education
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Hydrocephalus
Hydrocephalus(Greek words "hydro" = water,and "cephalus" meaning head)
Patient with hyrdocephalus have abnormalaccumulation of cerebrospinal fluid(CSF) in theventricles, or cavities, of the brain
This may cause increased intracranial pressureinside the skulland progressive enlargement ofthe head, convulsion, and mental disability
http://en.wikipedia.org/wiki/Cerebrospinal_fluidhttp://en.wikipedia.org/wiki/Ventricular_systemhttp://en.wikipedia.org/wiki/Brainhttp://en.wikipedia.org/wiki/Intracranial_pressurehttp://en.wikipedia.org/wiki/Skullhttp://en.wikipedia.org/wiki/Skullhttp://en.wikipedia.org/wiki/Intracranial_pressurehttp://en.wikipedia.org/wiki/Brainhttp://en.wikipedia.org/wiki/Ventricular_systemhttp://en.wikipedia.org/wiki/Cerebrospinal_fluid8/12/2019 Congenital Disorders
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Epidemiology
affects one in every 500 live births
one of the most common birth defects,
more common than Down syndrome ordeafness
According to the NIH website, there are anestimated 700,000 children and adultsliving with hydrocephalus
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Classification
Based on its underlying mechanisms, can
be classified into communicating, and
non-communicating(obstructive)
Both forms can be either congenital, or
acquired.
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Communicating hydrocephalus
impaired cerebrospinal fluid resorption in theabsence of any CSF-flow obstruction
Caused by- subarachnoid/intraventricular hemorrhage
- meningitis
- Chiari malformation
- congenital absence of arachnoidal granulations
(Pacchioni's granulations)
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Congenital hydrocephalus
is a condition present at
birth in which excess
cerebrospinal fluid (CSF)
collects within the brain
can increase pressure in
the baby's brain
resulting in brain
damage and loss of
mental and physical
abilities
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Etiology
either genetic or other causes, such as
prenatal hemorrhage (bleeding in the fetus
before birth) or infections, such as TORCH
the condition is often associated with other
birth defects, especially spina bifida
http://www.webmd.com/hw-popup/spina-bifidahttp://www.webmd.com/hw-popup/spina-bifida8/12/2019 Congenital Disorders
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Management
Diagnosis:
- ultrasound (USG)
- brain computed tomography (CT) scan,
- magnetic resonance imaging (MRI)to confirm the diagnosis or to provide a more
detailed picture of the brain and its structures
Treatment:
PV-shunt at the first 3 to 4 months