Congenital malformations

Congenital Malformationsby: Vaishali bhushan

Congenital Malformations:AnenceplhalyMicrocephalyMegalencephalySepto-Optic DysplasiaDiastomatomyeliaPolymycrogyriaEncephaloceleSpina bifida

Anencephalyanencephaly is a cephalic disorder that results

from a neural tube defect that occur when the cephalic(head) end of the neural tube fails to close, usually between 23rd and 26thday of pregnancy, resulting in the absence of a major portion of brain, skull, and scalp.

Presentations:

The National Institute of Neurological Disorders and Stroke (NINDS) describe the presentation of this condition as follows.

• A baby born with anencephaly is usually blind, deaf, unconscious and unable to feel pain.

Symptoms:

•Absence of the skull

•Absence of the brain ( cerebral hemisphere

and cerebellum)

•Facial features abnormalities.

•Cleft palate

•Congenital heart defects.

Diagnostic Evaluations:

Pregnancy Ultrasound

Amniocentesis

Alpha- fetoprotein level.

urine estriol level

Pre-Pregnancy serum folic acid test.

Management: There is no treatment for anencephaly. Treatment is support.Folic acid can help reduce the risk of certain birth defects. It is important for women who became pregnant to get enough folic acid.Multivitamin with folic acid should be taken every day by pregnant women's or women's planning for pregnancy.Getting enough folic acid can reduce the chance of neural tube defects by 50%.

Microcephaly.

Microcephaly.

The term MiCROCEPHALY means small head .

Microcephaly is a rare neurological condition in

which an infant has a significantly smaller than

normal head size because the brain has not

developed properly or has stopped growing.

Causes and Risk factors:-

Microcephaly can be caused by the exposure of harmful substances during the fetal development. The following may predispose a fetal to problem affecting there development of the head during pregnancy:•Exposure to hazardous chemicals•Methyl mercury Poisoning•Lack of proper vitamins and nutrients in mothers diet.

Cont…•Cytomegalovirus, rubella or varicella-zoster virus infection.•Illegal drugs and alcohol consumptions•Untreated phenylketonuria(PKU)•Chromosomal Abnormalities such as Down syndrome.

Clinical Manifestations:Depending on the severity of the syndrome; baby’s head is very smallMental retardation’Delayed motor function and speechIncreased movement of arms and legsFacial distortion HyperactivitySeizuresDifficulty with coordination and balanceOther brain and neurological abnormalities.Poor feeding developmental delaysIntellectual disabilities.

Diagnostic evaluation:

oBirth and family history

oPhysical exam

oPrenatal ultrasound

oHead CT or MRI

o Blood and Urine test.

Management:

there is no treatment that will enlarge Childs head or reverse complications.Treatment is symptomatic and supportive. Treatment focuses on ways to manage child condition.Physical, speech, and occupational therapist helps to maximize abilities and minimize dysfunction.Medications also used to control seizures, hyperactivity and neuromuscular symptoms.Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies.

Megalencephaly

Megalencephaly:

megalencephaly also called macrencephaly is a condition in which there is abnormally large heavy and usually malfunctioning brain.

the brain weight is greater than the average for the age and gender of the individual.

it may be visible at birth or the head may become abnormally large in early years of life.

Causes:Genetic and non-genetic factors• megalencephaly may occur as an autosomal

dominanat(more common) or autosomal reccessive condition.• Sotos syndrome( overgrowth syndrome)• Alexander disease ( Leukodystrophy)• chromosomal abnormality such as Klinefelter

syndrome. non- Genetic Factors:• transient disorder of cerebro spinal fluid.• also it can be idiopathic.

Clinical Manifestations: developmental delays seizures convulsive disorder an abnormal brain cortex and spinal cordMental retardation is common with megalencephaly. some neurological symptoms: delay of motor milestone such as holding up head, rolling over.Speech delayPoor muscle toneBody asymmetryParalysis of more or both sides of body.Poor coordinationInvoluntary movementsVisual disturbances

Diagnostic Evaluation:

Medical history or family History physical exam and developmental and

neurological exam.CT scan or MRILaboratory testing for Genetic or Chromosomal

Disorders.

Management:

There is no specific cure for megelencephaly; routine Health care Maintenance including Periodic Head Measurements for Patients with neurological or Physical problems anti-epileptic drugs for seizures.Treatment of medical complicationsRehabilitation for neurological problems such as speech delay poor muscle tone.

Septo-Optic Dysplasia:

septo- optic dysplasia is a rare disorder characterizes by abnormal development of optic disc, pituitary deficiencies and often agenesis of the septum pellucidum

Causes:

Idiopathic Young maternal ageFamiliar recurrence of at least one genetic formRisk factors: maternal smoking, alcohol consumption, use of addictive drugs during early gestation.

Clinical manifestations: optic nerve dysplasiaNystagmus inward and outward deviation of the eyesPituitary deficiencyHypoglycemiaJaundiceSevere mental retardationSeizuresBrain impairmentHypotonia.

Management:

• Hormone Replacement:- all pituitary hormones can be replace in pituitary deficiency • vision physical and occupational therapies may be required.•If brain impairment is significant it cannot be made normal by any treatment.

Diastomatomyelia

Diastomatomyelia:

is a congenital disorder in which a part of spinal cord is split, usually at the level of upper lumbar vertebra The particular malformation is a complete or partial separation of the spinal cord into two separate “hemi cords”.

The separation usually occurs in the middle of the spinal cord and the hemi cords reunite below it. When the split do not reunite distally to the spur the condition is refer to as diplomyelia.

Clinical Manifestation: The sign and symptoms may appear at any time of life: Coetaneous Lesions: such has hairy patch, dimple, Hemangioma,subcutaneous mass, lipoma or teratoma override the affected area of spine is found. Neurological Symptoms: are nonspecifics,the symptoms are caused by tissue attachmrnts that limits the movements of the spinal cord within the spinal column.

Therese attachments causes an abnormal stretching of spinal cord.foot and spinal deformities.Weakness in the kegsLow back painScoliosis incontinenceIn adulthood: sign and symptoms often includes progressive sensory and motor problems and loss of bladder and bowel control.

Diagnostic Evaluation:

X-ray CT scan MRI Ultrasound in 3rd trimester

Management: symptomatic treatmentSurgical Management: includes decompression of

neural elements and removal of bony spur.

Polymicrogyria:PMG is a disorder of neural migration resulting

in structural malformation of the human brain characterized by an excessive number of small convolutions(gyri) on the surface of the brain. Either the whole surface or part of the surface can be affected.

The cause is unknown in many case. Other responsible factors are infection during pregnancy lack of oxygen genetic causes.

Sign and symptoms: developmental delays, feeding problems, respiratory problems cerebral palsy, mental retardation.

Encephalocele (Cranium Bifidum):-

Encephalocele (Cranium Bifidum):-

It is a neural tube defect characterized by sac- like protrusion of the brain and the membranes that cover it through the openings in the skull. These defects are caused by the failure of the neural tube to close completely during fetal development.

Classifications:Nasofrontal: present in the nose and forehead.

Nasoethmoidal; present in the nose and ethmoid sinus

Naso-orbit: present in the nose and the eye.Encephalomeningocele: if brain tissue is also involved.Meningocele: If bulging portion contains only CSF and overlying membrane.

Clinical Manifestation:

Neurologic Problems Hydrocephalus Spastic quadriplegiaMicrocephaly Ataxia Developmental delay.Vision problemsMental and growth retardationSeizures.

Surgical Mangement:

Surgery is performed to place the protruding tissues back into the skull remove the sac and correct the associated craniofacial abnormalities.

Spina Bifida Spina bifida is a neural tube defect caused by the failure of the fetus spine to close properly during the first month of pregnancy.

Spina Bifida Occulta

Closed Neural tube defects

Spina Bifida Manifesta

Spina bifida Meningocele

Myelomeningocele

Spina Bifida

1) Spina bifida occulta:

it is one of the most comon form in which one or more vertebrae are malformed.Occulta means hidden indicates that the malformation or opening is covered by layer of skin.Symptoms: bladder and bowel problems or scoliosis.2) Closed Neural tube defect:

It is thr second type of spina bifida in ehich the spinal cord is marke dby a malformation of fat bone or membraanous. symptoms:urinary or bowel dysfunction.

3)Spina bifida manifesta: It is associated with nerve damage that can result in problem like walking, bladder control, and coordination.It can be seperated in to classes:a) Spina Bifida meningocele:It is rare type of spina bifida. In this type the meninges are pushed out between the openings in the vertebrae.The membranes can be usually removed during surgery. symptoms: symptoms are similar to closed neural tube defect, the nervous system is undamaged but may have other problems like bladder and bowel problems

b) Myelomeningocele:- It is the most serious type of spina bifida.The spinal cord remains open along several vertebrae resulting in partial or complete paralysis of the parts of the body below the spinal opening.The membrane and spinal cord create a sac in the baby's back. The sac is covered with meninges although it remains open leaving it vulnerable to infection leading to fatal.

Cause and risk factors:• Folic acid deficiency•Previous pregnancy with neural tube defects•Family history•Use of anti-seizure medication•Diabetes •Obesity•High temperature in early pregnancy•Excessive use of alcohol.

Clinical Manifestation: DimpleDepressionBirthmarksHairy patch over the affected areaAbnormal tuft of hairLoss of bladder or bowel controlPartial or complete lack of sensationWeakness of legs hip feet of newborn

Buildup of fluid inside the skullHair at the back part of pelvisLearning disabilities.

Diagnostic Evaluation: Quadruple screen

Maternal serum alpha fetoprotein test (MSAFP)

Neurologic Examination

X-ray, Ultrasound, MRI.

Management:Treatment depends on the type and severity of disorder:Surgery is usually helpful to close the spinal gap and prevent infection.Prenatal surgery is also an optionPhysical therapies, crutches and braces may be necessary to help problems resulting from nerve damage. if infant has hydrocephalus ventricular peritoneal shunt can help drain any extra fluid from the head.

Catheter should be put to help regulate bladder function.Pharmacologic Management:

Antibiotics to prevent infections like meningitis.Folic acid supplement to pregnant womenOxybutynin to prevent incontinencePhysical therapy is also one of methodic prevent

muscles from weakening.