Congenital Disorders

8/12/2019 Congenital Disorders

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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_tube


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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_acid


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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/Blindness


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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/Latin


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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/Lumbar


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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/Lipoma


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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/Cyst


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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/Meninges


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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_fluid


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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-bifida


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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

Documents

Congenital Disorders