1. Congenital Anomalies of Central Nervous System
Prof Samiya Naeemullah
Diplomate American Board Of Pediatrics
FCPS,FAAP.
Head Of Department Of Pediatrics
Islamic International Medical college

2. Learning Objectives Recognize Anomalies of Head
Hydrocephalus,Microcephaly
How do they Present clinically
Recognize anomalies of Spine
Neural Tube defects
Spina bifida
Recognize clinical manifestations

3. HYDROCEPHALUS Congenital Acquired
Excessive accumulation of cerebrospinal fluid (CSF) in the cerebral cavity .
There is either impaired absorption or increased production of CSF.
There Is obstruction to the flow of CSF and dilatation occurs distal to obstruction

5. Clinical features IN INFANTS Accelerated rate of enlargement of head
Anterior fontanel is wide and bulging
Scalp veins are dilated
The forehead is broad
Fixed downward gaze
And sunsetting of eyes

10. OLDER CHILDREN Irritability,lethargy poor appetite vomiting,headache
A gradual change in personality and intellectual productivity
Serial measurement in head circumference shows increased velocity

11. EXAMINATION Cracked Pot sign Papilledema, Abducens nerve palsy
Pyramidal tract sign more evident in lower limbs

12. MACROCEPHELY Head circumference above 98th percentile
Normal children may have large heads
Familial
Tall stature
Hydrocephalus
Subdural hematoma,Cerebral tumour,
Cerebral gigantism

13. MICROCEPHALY Head circumference below 2nd centile
Abnormalities in fetal development during neuronal migration
Familial
Autosomal recessive condition with developmental delay
Congenital infection
Perinatal Asphyxia,meningitis

16. Mutations in folate dependent or folate responsive pathways
NEURAL TUBE DEFECTS
Failure of the neural tube to close spontaneously between 3rd & 4th week in utero development
CAUSES
Maternal Diabetes
Maternal obesity
Mutations in folate dependent or folate responsive pathways

17. MAJOR DEFECTS Spina bifida occulta Meningocele Myelomeningocele
Encephalocele
Anancephaly
Dermal sinus
Tethered cord

18. SPINA BIFIDA OCCULTA
Midline defect of the vertebral bodies without protrusion of the spinal cord or meninges
Mostly asymptomatic
In the midline of the lower back(L5 S1)
Patches of hair,
Lipoma,
Discolouration of skin
Dermal sinus ,

19. MENINGOCELE
Meninges herniate through a defect in posterior vetebral arches
A fluctuating midline mass that transilluminates occurs along the vetebral column in lower back well covered with skin

23. MYELOMENINGOCELE Most severe form of dysraphism 1 in 4000 live births
Lumbosacral in 75% of cases.
Dysfunction of many organs and structures including skin, skeleton, gastrointestinal and genitourinary tract.

25. NEUROLOGIC DEFICIT Depends on the location of defect Low sacral
Bladder and Bowel incontinence
Mid Lumber Region
Flaccid paralysis of lower limbs
Absent deep tendon reflexes
Lack of response to touch and pain
High incidence of lower extremity deformities.

26. ANENCEPHALY A defect in the calvarium meninges and scalp
Rudimentary brain
failure of closure of rostral neuropore (opening of the anterior neural tube.)
The cerebral hemispheres and cerebellum are absent and a residue of brainstem present

28. PREVENTION
Folic Acid Tablets
4 mg daily one month before conception