The document discusses several congenital malformations including anencephaly, microcephaly, megalencephaly, septo-optic dysplasia, diastomatomyelia, polymicrogyria, encephalocele, and spina bifida. It provides details on causes, clinical presentations, diagnostic evaluations, and management for each condition. Anencephaly is a neural tube defect where the brain and skull are absent. Microcephaly is a small head size due to abnormal brain development. Megalencephaly is an abnormally large brain. Septo-optic dysplasia involves optic nerve and pituitary abnormalities. Spina bifida is an incomplete closing of the spine that can range from mild
4. Anencephaly
anencephaly 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.
5. 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.
6. Symptoms:
•Absence of the skull
•Absence of the brain ( cerebral hemisphere
and cerebellum)
•Facial features abnormalities.
•Cleft palate
•Congenital heart defects.
8. 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%.
10. 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.
11. 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.
12. Cont…
•Cytomegalovirus, rubella or varicella-zoster
virus infection.
•Illegal drugs and alcohol consumptions
•Untreated phenylketonuria(PKU)
•Chromosomal Abnormalities such as Down
syndrome.
13. Clinical Manifestations:
Depending on the severity of the syndrome;
baby’s head is very small
Mental retardation’
Delayed motor function and speech
Increased movement of arms and legs
Facial distortion
Hyperactivity
Seizures
Difficulty with coordination and balance
Other brain and neurological abnormalities.
Poor feeding
developmental delays
Intellectual disabilities.
15. 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.
17. 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.
18. 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.
19. Clinical Manifestations:
developmental delays
seizures
convulsive disorder
an abnormal brain cortex and spinal cord
Mental retardation is common with megalencephaly.
some neurological symptoms:
delay of motor milestone such as holding up head,
rolling over.
Speech delay
Poor muscle tone
Body asymmetry
Paralysis of more or both sides of body.
Poor coordination
Involuntary movements
Visual disturbances
20. Diagnostic Evaluation:
Medical history or family History
physical exam and developmental and
neurological exam.
CT scan or MRI
Laboratory testing for Genetic or Chromosomal
Disorders.
21. 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 complications
Rehabilitation for neurological problems such as
speech delay poor muscle tone.
22. 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
23. Causes:
Idiopathic
Young maternal age
Familiar recurrence of at least one genetic form
Risk factors: maternal smoking, alcohol
consumption, use of addictive drugs during early
gestation.
24. Clinical manifestations:
optic nerve dysplasia
Nystagmus
inward and outward deviation of the eyes
Pituitary deficiency
Hypoglycemia
Jaundice
Severe mental retardation
Seizures
Brain impairment
Hypotonia.
25. 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.
27. 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.
28. 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.
29. Therese attachments causes an abnormal stretching
of spinal cord.
foot and spinal deformities.
Weakness in the kegs
Low back pain
Scoliosis
incontinence
In adulthood: sign and symptoms often includes
progressive sensory and motor problems and loss of
bladder and bowel control.
30. Diagnostic Evaluation:
X-ray
CT scan
MRI
Ultrasound in 3rd trimester
Management:
symptomatic treatment
Surgical Management: includes decompression of
neural elements and removal of bony spur.
31. 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.
33. 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.
34. 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.
36. Surgical Mangement:
Surgery is performed to place the protruding tissues
back into the skull remove the sac and correct the
associated craniofacial abnormalities.
37. 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.
39. 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.
40. 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
41. 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.
42. 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.
44. Buildup of fluid inside the skull
Hair at the back part of pelvis
Learning disabilities.
Diagnostic Evaluation:
Quadruple screen
Maternal serum alpha fetoprotein test (MSAFP)
Neurologic Examination
X-ray, Ultrasound, MRI.
45. 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 option
Physical 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.
46. Catheter should be put to help regulate bladder
function.
Pharmacologic Management:
Antibiotics to prevent infections like meningitis.
Folic acid supplement to pregnant women
Oxybutynin to prevent incontinence
Physical therapy is also one of methodic prevent
muscles from weakening.