illustrated information about hydrocephalus and neural tube defects

1. HYDROCEPHALUS &NEURAL TUBE DEFECTS
PRESENTEDBY :
DIR. MONAMOHAMMEDALI
1

2. HYDROCEPHALUS
• HYDROCEPHALUS CAN BE DEFINED BROADLY AS A
DISTURBANCE OF CEREBROSPINAL FLUID (CSF) FORMATION,
FLOW, OR ABSORPTION, LEADING TO AN INCREASE IN
VOLUME OCCUPIED BY THIS FLUID IN THE CENTRAL
NERVOUS SYSTEM (CNS).
• THIS CONDITION COULD ALSO BE TERMED A
HYDRODYNAMIC CSF DISORDER.
2

3. 3

4. 4

5. PATHOPHYSIOLOGY
• NORMAL CSF PRODUCTION IS 0.20-0.35 ML/MIN; MOST CSF IS PRODUCED BY THE CHOROID
PLEXUS, WHICH IS LOCATED WITHIN THE VENTRICULAR SYSTEM, MAINLY THE LATERAL AND
FOURTH VENTRICLES. THE CAPACITY OF THE LATERAL AND THIRD VENTRICLES IN A HEALTHY
PERSON IS 20 ML. TOTAL VOLUME OF CSF IN AN ADULT IS 120 ML.
• NORMAL ROUTE OF CSF FROM PRODUCTION TO CLEARANCE IS THE FOLLOWING: FROM THE
CHOROID PLEXUS, THE CSF FLOWS TO THE LATERAL VENTRICLE, THEN TO THE
INTERVENTRICULAR FORAMEN OF MONRO, THE THIRD VENTRICLE, THE CEREBRAL
AQUEDUCT OF SYLVIUS, THE FOURTH VENTRICLE, THE TWO LATERAL FORAMINA OF
LUSCHKA AND ONE MEDIAL FORAMEN OF MAGENDIE, THE SUBARACHNOID SPACE, THE
ARACHNOID GRANULATIONS, THE DURAL SINUS, AND FINALLY INTO THE VENOUS DRAINAGE.
• ICP RISES IF PRODUCTION OF CSF EXCEEDS ABSORPTION. THIS OCCURS IF CSF IS
OVERPRODUCED, RESISTANCE TO CSF FLOW IS INCREASED, CSF RESORPTION IS
DECREASED, OR VENOUS SINUS PRESSURE IS INCREASED. CSF PRODUCTION FALLS AS ICP
RISES. 5

6. 6

7. 7

8. 8

9. ETIOLOGY
• 1. CSF OVERPRODUCTION.
• 2. REDUCED CSF ABSORPTION
• 3. CSF FLOW OBSTRUCTION.
9

10. CLASSIFICATION
• 1. COMMUNICATING (NON-OBSTRUCTED).
• 2. NON COMMUNICATING (OBSTRUCTED).
10

11. S&S
• CLINICAL FEATURES OF HYDROCEPHALUS ARE INFLUENCED BY THE PATIENT'S AGE, THE CAUSE OF
THE HYDROCEPHALUS, THE LOCATION OF THE OBSTRUCTION, ITS DURATION, AND ITS RAPIDITY OF
ONSET.
• SYMPTOMS IN INFANTS INCLUDE POOR FEEDING, IRRITABILITY, REDUCED ACTIVITY, AND VOMITING.
• SYMPTOMS IN CHILDREN AND ADULTS INCLUDE THE FOLLOWING:
1. SLOWING OF MENTAL CAPACITY, COGNITIVE DETERIORATION
2. HEADACHES (INITIALLY IN THE MORNING)
3. NECK PAIN, SUGGESTING TONSILLAR HERNIATION
4. VOMITING, MORE SIGNIFICANT IN THE MORNING
5. BLURRED VISION: A CONSEQUENCE OF PAPILLEDEMA AND, LATER, OF OPTIC ATROPHY
6. DOUBLE VISION: RELATED TO UNILATERAL OR BILATERAL SIXTH NERVE PALSY
7. DIFFICULTY IN WALKING SECONDARY TO SPASTICITY: PREFERENTIALLY AFFECTS THE LOWER LIMBS
BECAUSE THE PERIVENTRICULAR PYRAMIDAL TRACT IS STRETCHED BY THE HYDROCEPHALUS
8. DOWSINESS
11

12. S&S(CONTINUED)
• CHILDREN MAY ALSO EXHIBIT STUNTED GROWTH AND SEXUAL
MATURATION FROM THIRD VENTRICLE DILATATION.
• ADULTS MAY ALSO HAVE NAUSEA THAT IS NOT EXACERBATED
BY HEAD MOVEMENTS; INCONTINENCE (URINARY FIRST, FECAL
LATER IF CONDITION REMAINS UNTREATED) INDICATES
SIGNIFICANT DESTRUCTION OF THE FRONTAL LOBES AND
ADVANCED DISEASE.
12

13. S&S(CONTINUED)
• SYMPTOMS OF NORMAL PRESSURE HYDROCEPHALUS (NPH) INCLUDE THE FOLLOWING:
1. GAIT DISTURBANCE: USUALLY THE FIRST SYMPTOM AND MAY PRECEDE OTHER SYMPTOMS
BY MONTHS OR YEARS; MAGNETIC GAIT IS USED TO EMPHASIZE THE TENDENCY OF THE
FEET TO REMAIN "STUCK TO THE FLOOR" DESPITE PATIENTS’ BEST EFFORTS TO MOVE THEM
2. DEMENTIA (OF VARYING DEGREES): SHOULD BE A LATE FINDING IN PURE (SHUNT-
RESPONSIVE) NPH; PRESENTS AS AN IMPAIRMENT OF RECENT MEMORY OR AS A "SLOWING
OF THINKING"; SPONTANEITY AND INITIATIVE ARE DECREASED
3. URINARY INCONTINENCE: MAY PRESENT AS URGENCY, FREQUENCY, OR A DIMINISHED
AWARENESS OF THE NEED TO URINATE
4. OTHER SYMPTOMS THAT CAN OCCUR: PERSONALITY CHANGES AND PARKINSONISM
5. RARELY: HEADACHES; SEIZURES ARE EXTREMELY RARE—CONSIDER AN ALTERNATIVE
DIAGNOSIS
13

14. • SIGNS MAY INCLUDE THE FOLLOWING:
1. HEAD ENLARGEMENT (HEAD CIRCUMFERENCE ≥98TH PERCENTILE FOR
AGE), ESPECIALLY CROSSING PERCENTILES ON THE GROWTH CHART
2. DYSJUNCTION/SPLAYING OF SUTURES
3. DILATED SCALP VEINS
4. TENSE/BULGING FONTANELLE
5. SETTING-SUN SIGN: CHARACTERISTIC OF INCREASED INTRACRANIAL
PRESSURE (ICP); DOWNWARD DEVIATION OF THE OCULAR GLOBES,
RETRACTED UPPER LIDS, VISIBLE WHITE SCLERAE ABOVE IRISES
14
S&S(CONTINUED)

15. SETTING –SUN SIGN
15

16. 6. INCREASED LIMB TONE (SPASTICITY PREFERENTIALLY AFFECTING
THE LOWER LIMBS)
7. PAPILLEDEMA (OPTIC NERVE SWELLING), ALTHOUGH THIS DOES
NOT DEVELOP ACUTELY
8. FAILURE OF UPWARD GAZE: DUE TO PRESSURE ON THE TECTAL
PLATE THROUGH THE SUPRAPINEAL RECESS; THE LIMITATION OF
UPWARD GAZE IS OF SUPRANUCLEAR ORIGIN
9. UNILATERAL OR BILATERAL SIXTH NERVE PALSY (SECONDARY TO
INCREASED ICP)
16
S&S(CONTINUED)

17. WORKUP
• NO SPECIFIC BLOOD TESTS ARE RECOMMENDED IN THE WORKUP
FOR HYDROCEPHALUS. HOWEVER, CONSIDER GENETIC TESTING
AND COUNSELING WHEN X-LINKED HYDROCEPHALUS IS
SUSPECTED, AND EVALUATE THE CSF IN POSTHEMORRHAGIC AND
POSTMENINGITIC HYDROCEPHALUS FOR PROTEIN CONCENTRATION
AND TO EXCLUDE RESIDUAL INFECTION.
• OBTAIN ELECTROENCEPHALOGRAPHY IN PATIENTS WITH SEIZURES.
17

18. IMAGING STUDIES
THE FOLLOWING IMAGING STUDIES MAY BE USED TO EVALUATE PATIENTS WITH
SUSPECTED HYDROCEPHALUS:
1. COMPUTED TOMOGRAPHY (CT) SCANNING: TO ASSESS SIZE OF VENTRICLES AND
OTHER STRUCTURES
2. MAGNETIC RESONANCE IMAGING (MRI): TO ASSESS FOR CHIARI MALFORMATION
OR CEREBELLAR OR PERIAQUEDUCTAL TUMOURS
3. ULTRASONOGRAPHY THROUGH ANTERIOR FONTANELLE IN INFANTS: TO ASSESS
FOR SUBEPENDYMAL AND INTRAVENTRICULAR HAEMORRHAGE; TO FOLLOW
INFANTS FOR POSSIBLE PROGRESSIVE HYDROCEPHALUS
4. SKULL RADIOGRAPHY: TO DETECT EROSION OF SELLA TURCICA, OR "BEATEN
COPPER CRANIUM" (OR "BEATEN SILVER CRANIUM")—THE LATTER CAN ALSO BE
SEEN IN CRANIOSYNOSTOSIS; (AFTER SHUNT INSERTION) TO CONFIRM CORRECT
POSITIONING OF INSTALLED HARDWARE
18

19. 5. MRI CINE: TO MEASURE CSF STROKE VOLUME (SV) IN THE CEREBRAL AQUEDUCT;
HOWEVER, SUCH MEASUREMENTS DON’T APPEAR TO BE USEFUL IN PREDICTING
RESPONSE TO SHUNTING.
6. DIFFUSION TENSOR IMAGING (DTI): TO DETECT DIFFERENCES IN FRACTIONAL
ANISOTROPY AND MEAN DIFFUSIVITY OF THE BRAIN PARENCHYMA SURROUNDING THE
VENTRICLES; ALLOWS RECOGNITION OF MICROSTRUCTURAL CHANGES IN
PERIVENTRICULAR WHITE MATTER REGION THAT MAY BE TOO SUBTLE ON
CONVENTIONAL MRI .
7. RADIONUCLIDE CISTERNOGRAPHY (IN NPH): TO ASSESS THE PROGNOSIS WITH REGARD
TO POSSIBLE SHUNTING—HOWEVER, DUE TO ITS POOR SENSITIVITY IN PREDICTING
SHUNT RESPONSE WHEN THE VENTRICULAR TO TOTAL INTRACRANIAL ACTIVITY (V/T)
RATIO IS LESS THAN 32%, THIS TEST IS NO LONGER COMMONLY USED.
IMAGING STUDIES(CONTINUED)
19

20. • NONCOMMUNICATING OBSTRUCTIVE HYDROCEPHALUS CAUSED BY
OBSTRUCTION OF THE FORAMINA OF LUSCHKA AND MAGENDIE. THIS MRI
SAGITTAL IMAGE DEMONSTRATES DILATATION OF LATERAL VENTRICLES WITH
STRETCHING OF CORPUS CALLOSUM AND DILATATION OF THE FOURTH
VENTRICLE.
20

21. • NONCOMMUNICATING OBSTRUCTIVE HYDROCEPHALUS CAUSED BY
OBSTRUCTION OF FORAMINA OF LUSCHKA AND MAGENDIE.
THIS MRI AXIAL IMAGE DEMONSTRATES DILATATION OF THE LATERAL
VENTRICLES.
21

22. NONCOMMUNICATING OBSTRUCTIVE HYDROCEPHALUS CAUSED BY
OBSTRUCTION OF FORAMINA OF LUSCHKA AND MAGENDIE.
THIS MRI AXIAL IMAGE DEMONSTRATES FOURTH VENTRICLE DILATATION.
22

23. COMMUNICATING HYDROCEPHALUS WITH SURROUNDING "ATROPHY" AND INCREASED
PERIVENTRICULAR AND DEEP WHITE MATTER SIGNAL ON FLUID-ATTENUATED INVERSION
RECOVERY (FLAIR) SEQUENCES. NOTE THAT APICAL CUTS (LOWER ROW) DO NOT SHOW
ENLARGEMENT OF THE SULCI, AS IS EXPECTED IN GENERALIZED ATROPHY. PATHOLOGICAL
EVALUATION OF THIS BRAIN DEMONSTRATED HYDROCEPHALUS WITH NO MICROVASCULAR
PATHOLOGY CORRESPONDING WITH THE SIGNAL ABNORMALITY (WHICH LIKELY REFLECTS
TRANSEPENDYMAL EXUDATE) AND NORMAL BRAIN WEIGHT (INDICATING THAT THE SULCI
ENLARGEMENT WAS DUE TO INCREASED SUBARACHNOID CEREBROSPINAL FLUID [CSF]
CONVEYING A PSEUDOATROPHIC BRAIN PATTERN).
23

24. TREATMENT
SURGICAL TREATMENT IS THE PREFERRED THERAPEUTIC OPTION IN PATIENTS
WITH HYDROCEPHALUS. MOST PATIENTS EVENTUALLY UNDERGO SHUNT
PLACEMENTS, SUCH AS THE FOLLOWING:
1. VENTRICULOPERITONEAL (VP) SHUNT (MOST COMMON)
2. VENTRICULOATRIAL (VA) SHUNT (OR "VASCULAR SHUNT")
3. LUMBOPERITONEAL SHUNT: ONLY USED FOR COMMUNICATING
HYDROCEPHALUS, CSF FISTULA, OR PSEUDOTUMOR CEREBRI)
4. TORKILDSEN SHUNT (RARELY): EFFECTIVE ONLY IN ACQUIRED OBSTRUCTIVE
HYDROCEPHALUS (VENTRICULOCISTERNOSTOMY)
5. VENTRICULOPLEURAL SHUNT (SECOND-LINE THERAPY): USED IF OTHER SHUNT
TYPES CONTRAINDICATED
24

25. TREATMENT (CONTINUED)
RAPID-ONSET HYDROCEPHALUS WITH ICP IS AN EMERGENCY. THE FOLLOWING
PROCEDURES CAN BE DONE, DEPENDING ON EACH SPECIFIC CASE:
1. VENTRICULAR TAP IN INFANTS
2. OPEN VENTRICULAR DRAINAGE IN CHILDREN AND ADULTS (EVD, EXTERNAL
VENTRICULAR DRAIN)
3. LUMBAR PUNCTURE (LP) IN POSTHEMORRHAGIC AND POSTMENINGITIC
HYDROCEPHALUS
4. VP OR VA SHUNT
REPEAT LPS CAN BE PERFORMED FOR CASES OF HYDROCEPHALUS AFTER
INTRAVENTRICULAR HEMORRHAGE (WHICH CAN RESOLVE SPONTANEOUSLY). IF
REABSORPTION DOES NOT RESUME WHEN THE CSF PROTEIN CONTENT IS LESS
THAN 100 MG/DL, SPONTANEOUS RESORPTION IS UNLIKELY TO OCCUR. LPS CAN BE
PERFORMED ONLY IN CASES OF COMMUNICATING HYDROCEPHALUS.
25

26. TREATMENT (CONTINUED)
ALTERNATIVES TO SHUNTING INCLUDE THE FOLLOWING:
1. CHOROID PLEXECTOMY OR CHOROID PLEXUS
COAGULATION
2. OPENING OF A STENOSED AQUEDUCT
3. ENDOSCOPIC FENESTRATION OF THE FLOOR OF THE
THIRD VENTRICLE (HOWEVER, CONTRAINDICATED IN
COMMUNICATING HYDROCEPHALUS)
26

27. NEURAL TUBE DEFECTS
• NEURAL TUBE DEFECTS (NTD) ARE SIGNIFICANT BIRTH
DEFORMITIES OF THE CENTRAL NERVOUS SYSTEM THAT
OCCUR DUE TO A DEFECT IN THE NEURULATION
PROCESS OF EMBRYOGENESIS.
• THEY ARE AMONG THE MOST COMMON TYPE OF BIRTH
DEFECTS.
27

28. ETIOLOGY
• THE EXACT CAUSES OF NTDS ARE NOT KNOWN.
• MANY DIFFERENT FACTORS, INCLUDING GENETICS, NUTRITION, AND
ENVIRONMENTAL FACTORS, ARE KNOWN TO PLAY A ROLE.
• RESEARCH SHOWS THAT GETTING ENOUGH FOLIC ACID (ALSO
KNOWN AS FOLATE OR VITAMIN B9) BEFORE CONCEPTION AND
EARLY IN PREGNANCY CAN GREATLY REDUCE THE RISK OF SPINA
BIFIDA AND OTHER NTDS.
• OTHER CAUSES INCLUDE POORLY CONTROLLED MATERNAL
DIABETES, USAGE OF ANTI FOLATE DRUGS AND ANTI EPILEPTIC
DRUGS DURING PREGNANCY IN ADDITION TO INTAUTERINE
INFECTIONS.
28

29. PATHOPHYSIOLOGY
• TWO DISTINCT AND CRITICAL PROCESSES ARE INVOLVED IN THE
FORMATION OF THE NEURAL TUBE:
• PRIMARY NEURULATION AND SECONDARY NEURULATION (I.E.,
CANALIZATION).
• THE NEURAL PLATE AND THE NOTOCHORD ARE FORMED DURING
EARLY EMBRYONIC DEVELOPMENT.
• THE NEURAL GROOVE DEVELOPS BY THE THIRD GESTATIONAL WEEK
AND THE NEURAL FOLDS SUBSEQUENTLY FORM BILATERALLY.
29

30. PATHOPHYSIOLOGY (CONTINUED)
• PRIMARY NEURULATION (WEEKS THREE AND FOUR DURING EMBRYOGENESIS,
FORMING THE EARLY BRAIN AND SPINAL CORD):
1. THE NEURAL FOLDS ELEVATE, APPROXIMATE EACH OTHER, AND START FUSING
ALONG THE DORSAL MIDLINE, THUS FORMING THE NEURAL TUBE. THIS BEGINS
DURING THE THIRD WEEK AFTER CONCEPTION.
2. THE CRANIAL NEUROPORE CLOSES DURING THE FOURTH GESTATIONAL WEEK.
THE LAST AREA TO CLOSE IS THE COMMISSURAL PLATE.
3. THE POINT OF INITIAL CLOSURE OCCURS AT THE CAUDAL RHOMBENCEPHALON,
OR CRANIAL NEUROPORE, ON DAY 25 OF EMBRYOGENESIS.
4. THE CUTANEOUS ECTODERM FUSES FIRST, FOLLOWED BY THE
NEUROECTODERM.
5. THE CAUDAL NEUROPORE CLOSES BETWEEN T11 AND S2, TWO DAYS AFTER
CLOSURE OF THE CRANIAL NEUROPORE (ROUGHLY DAY 27)
30

31. PATHOPHYSIOLOGY (CONTINUED)
• SECONDARY NEURULATION (CANALIZATION: WEEKS FIVE AND SIX, FORMING THE
EARLY SACRAL AND COCCYGEAL CORD):
1. THIS CHARACTERIZES FURTHER NEURAL DEVELOPMENT CAUDAL TO THE CAUDAL
NEUROPORE AFTER THE TERMINATION OF PRIMARY NEURULATION, AND THE
CAUDAL NEUROPORE CLOSES
2. THIS PROCESS INCLUDES FORMATION OF THE FILUM TERMINALE AND CONUS
MEDULLARIS FROM A POORLY DIFFERENTIATED CELL MASS OF THE MEDIAL
EMINENCE.
3. BECAUSE OF DIFFERENTIAL GROWTH BETWEEN THE VERTEBRAL COLUMN AND
THE SPINAL CORD, THE CONUS BECOMES MORE ROSTRAL DURING LATER
DEVELOPMENT.
4. BY 8 WEEKS AFTER CONCEPTION, SPINAL CORD TISSUE RUNS THE ENTIRE LENGTH
OF THE SPINAL CORD.
31

32. PATHOPHYSIOLOGY (CONTINUED)
• OPEN NTDS HAVE BEEN SUGGESTED TO RESULT FROM
DEFECTIVE PRIMARY NEURULATION WHILE DEFECTIVE
SECONDARY NEURULATION GIVES RISE TO CLOSED NTDS.
HOWEVER, THIS ISSUE IS NOT SETTLED.
• ANOTHER POSSIBLE EXPLANATION IS THAT OPEN NTDS (SPINA
BIFIDA IN PARTICULAR) RESULT FROM DEFECTS IN EITHER
PRIMARY OR SECONDARY NEURULATION, DEPENDING ON THEIR
SITE BEING CRANIAL OR CAUDAL TO THE POSTERIOR NEUROPORE
(IE, UPPER AND LOWER SPINA BIFIDA, RESPECTIVELY).
32

33. 33

34. CLASSIFICATION OF NTDS
• NTDS CAN BE CLASSIFIED AS “OPEN” OR “CLOSED” TYPES,
BASED ON EMBRYOLOGICAL CONSIDERATIONS AND THE
PRESENCE OR ABSENCE OF EXPOSED NEURAL TISSUE (I.E.,
FAILURE OF INCOMPLETE FUSION OF THE NEURAL PLATE).
34

35. CLASSIFICATION (CONTINUED )
• OPEN NTDS FREQUENTLY INVOLVE MULTIPLE ASPECTS OF THE CNS
(E.G., ASSOCIATED HYDROCEPHALUS, CHIARI II MALFORMATION)
AND ARE DUE TO FAILURE OF PRIMARY NEURULATION, THUS THE
NEURAL TUBE FAILS TO APPROPRIATELY CLOSE ALONG THE
DORSAL MIDLINE. NEURAL TISSUE IS COMPLETELY EXPOSED, OR
COVERED BY A MEMBRANE, WITH ASSOCIATED CEREBROSPINAL
FLUID (CSF) LEAKAGE.
• OPEN NTD’S REPRESENT ROUGHLY 80% OF ALL NTD’S, WITH THE
MOST COMMON BEING MENINGOCELE (SPINA BIFIDA),
MYELOMENINGOCELE, ENCEPHALOCELE, AND ANENCEPHALY. 35

36. CLASSIFICATION (CONTINUED)
• CLOSED NTDS ARE LOCALIZED AND CONFINED TO THE
SPINE (THE BRAIN IS RARELY AFFECTED) AND RESULT
FROM A DEFECT IN SECONDARY NEURULATION. NEURAL
TISSUE IS NOT EXPOSED AND THE DEFECT IS FULLY
COVERED BY EPITHELIUM, ALTHOUGH THE SKIN
COVERING THE DEFECT MAY BE DYSPLASTIC (I.E., TUFT
OF HAIR, DIMPLE, BIRTHMARK, OR OTHER SUPERFICIAL
ABNORMALITY).
36

37. PRESENTAIONS
• CRANIAL MANIFESTATIONS INCLUDE THE FOLLOWING:
1. ANENCEPHALY
2. ENCEPHALOCELE (MENINGOCELE OR
MENINGOMYELOCELE)
3. CRANIORACHISCHISIS TOTALIS
4. CONGENITAL DERMAL SINUS
37

38. PRESENTAIONS
• SPINAL PRESENTATIONS INCLUDE THE FOLLOWING:
1. SPINA BIFIDA OCCULTA
2. SPINA BIFIDA IN RELATION TO A DERMOID CYST
3. SPINA BIFIDA APERTA (MENINGOCELE, MYELOMENINGOCELE (SEE IMAGES
BELOW), MENINGOMYELOCELE, MYELOSCHISIS)
4. SPLIT-CORD MALFORMATIONS
5. DIASTEMATOMYELIA
6. DIPLOMYELIA
7. CAUDAL AGENESIS
8. LIPOMATOUS MALFORMATIONS (LIPOMYELOMENINGOCELE)
38

39. ANENCEPHALY
• ANENCEPHALY IS INCOMPATIBLE WITH LIFE.
• NO DIFFERENTIATED SUPRATENTORIAL NEURAL TISSUE IS PRESENT,
AND THE BRAIN STEM CONSISTS OF NESTS OF POORLY
DIFFERENTIATED NEURAL ELEMENTS.
• THE BRAIN STEM IS BELIEVED BY SOME TO BE NOT SUFFICIENTLY
DEVELOPED TO BE RESPONSIBLE FOR THE TEMPORARY BRAINSTEM
REFLEXES THAT ARE OBSERVED. SOME HAVE IMPLICATED THE
UPPER CERVICAL CORD AS THE SEAT OF THESE FUNCTIONS.
• THE SURVIVAL OF THESE NEWBORNS IS LIMITED TO A FEW HOURS
(RARELY >2 DAYS).
39

40. 40

41. 41

42. MENINGIMYRLOCELE
• THE MOST COMMON NTD COMPATIBLE WITH LIFE AND A POSITIVE PROGNOSIS IS
MYELOMENINGOCELE
• THE INCIDENCE OF MYELOMENINGOCELE IS 1 CASE IN 1200–1400 LIVE BIRTHS. IT IS
A DISEASE AFFECTING 6000–11000 NEWBORNS IN THE UNITED STATES ANNUALLY.
• PARALYSIS, BLADDER AND BOWEL INCONTINENCE, AND HYDROCEPHALUS ARE
THE MOST COMMON CLINICAL COMPLICATIONS.
• SEVERE INTELLECTUAL DISABILITY IS PRESENT IN 10–15% OF THESE PATIENTS.
• NEUROLOGIC DEFICITS ARE OVERALL DIFFICULT TO PREDICT BASED ON THE
LEVEL OF THE LESION.
42

43. MENINGIMYRLOCELE
43

44. 44

45. 45

46. SYMPTOMS
• MOST OPEN NTDS ARE READILY APPARENT AT THE TIME OF BIRTH; CLOSED NTDS
HAVE A VARIABLE PRESENTATION.
• THE MOST COMMON PRESENTATION OF A CLOSED NTD IS AN OBVIOUS ABNORMALITY
ALONG THE SPINE SUCH AS A FLUID-FILLED CYSTIC MASS, AREA OF
HYPOPIGMENTATION OR HYPERPIGMENTATION, CUTIS APLASIA, CONGENITAL
DERMAL SINUS, CAPILLARY TELANGIECTASIA/ HAEMANGIOMA, HAIRY PATCH
(HYPERTRICHOSIS), SKIN APPENDAGES, OR ASYMMETRICAL GLUTEAL CLEFT.
• COMMON TO ALL THESE PATIENTS IS A FULLY EPITHELIALIZED LESION AND NO
VISIBLE NEURAL TISSUE.
• CLOSED NTD CAN PRESENT WITHOUT A CUTANEOUS MARKER.
46

47. SKIN DIMPLE
47

48. 48

49. NAVUS
49

50. 50

51. • THE SECOND MOST COMMON REASON FOR SEEKING MEDICAL ATTENTION IS
ASYMMETRY OF THE LEGS AND/OR FEET. ONE CALF CAN BE THINNER, WITH A
SMALLER FOOT ON THE SAME SIDE, HIGHER ARCH, AND HAMMERING OR CLAWING
OF THE TOES.
• OTHER CHILDREN EXHIBIT PROGRESSIVE SPINAL DEFORMITIES SUCH AS
SCOLIOSIS.
• SOME CHILDREN PRESENT WITH A PICTURE OF PROGRESSIVE NEUROLOGICAL
DEFICITS THAT MAY INCLUDE WEAKNESS IN ONE DISTAL LOWER EXTREMITY,
SENSORY LOSS IN THE SAME DISTRIBUTION, AND BLADDER OR BOWEL
DYSFUNCTION.
• LOW BACK PAIN ALSO CAN OCCUR, SOMETIMES WITHOUT NEUROLOGICAL
DEFICIT. PAIN IS MORE COMMON IN OLDER CHILDREN OR ADOLESCENTS.
SYMPTOMS(CONTINUED)
51

52. • ADULTS CAN PRESENT WITH THE SUDDEN ONSET OF PAIN, MOTOR AND SENSORY LOSS,
AND BLADDER DYSFUNCTION AFTER AN ACUTE TRAUMA . THE REASON FOR SUCH
PRESENTATION MAY BE RELATED TO TETHERING OF THE CORD (THE DISTAL END OF THE
SPINAL CORD IS FIXED IN POSITION).
• MECHANICAL FORCES ASSOCIATED WITH MOTION MAY PRODUCE COMPRESSION
AND/OR VASCULAR INSUFFICIENCY.
• A PATIENT WITH A CLOSED NTD SUCH AS A CONGENITAL DERMAL SINUS WITH AN
INTRASPINAL DERMOID CYST OR A NEURO-ENTERIC CYST CAN PRESENT WITH
SYMPTOMS OF SPINAL CORD COMPRESSION DUE TO ENLARGEMENT OF THE MASS.
• A PATIENT WITH A DERMAL SINUS ALSO CAN PRESENT WITH BACTERIAL MENINGITIS OR
SPINAL ABSCESS.
• NEURO-ENTERIC OR DERMOID CYSTS ALSO CAN PRESENT WITH REPEATED BOUTS OF
ASEPTIC MENINGITIS DUE TO LEAKING OF THE CONTENTS INTO THE SPINAL
SUBARACHNOID SPACE.
SYMPTOMS(CONTINUED)
52

53. • FUNCTIONAL COMPLICATIONS MOST OFTEN OCCUR DURING
EARLY YEARS OF LIFE, BUT CAN MANIFEST AT ANY AGE.
• THE PREVALENCE OF MEDICAL COMORBIDITIES DEPENDS ON
THE LEVEL AND SEVERITY OF THE LESION. HOWEVER,
UROLOGIC ABNORMALITIES (I.E., UTI AND NEPHROLITHIASIS)
ARE THE MOST COMMON ISSUES AMONG ADULTS WITH NTDS.
• SCOLIOSIS, PAIN, EPILEPSY, AND PRESSURE ULCERS ARE ALSO
OFTEN REPORTED IN ADULT PATIENTS WITH
MYELOMENINGOCELE.
SYMPTOMS(CONTINUED)
53

54. SIGNS
• A COMPLETE NEUROLOGICAL ASSESSMENT OF THE NEWBORN WITH AN OPEN NTD SHOULD
BE PERFORMED TO DOCUMENT THE MANY POSSIBLE STRUCTURAL AND NEUROLOGICAL
PROBLEMS. THIS PROVIDES A BASELINE FOR FUTURE COMPARISON.
• PARTICULARLY IMPORTANT ASPECTS OF THE EVALUATION ARE MEASUREMENT OF HEAD
CIRCUMFERENCE, ASSESSMENT OF GENERAL VIGOUR (ESPECIALLY CRY AND SUCKING),
UPPER EXTREMITY MOTOR FUNCTION, ANAL SPHINCTER, AND URINARY STREAM, AS WELL
AS THOROUGH MOTOR AND SENSORY EXAMINATION OF THE LOWER EXTREMITIES AND
TRUNK.
• USUALLY THE LEVEL OF SENSORY DYSFUNCTION IS SLIGHTLY GREATER THAN THE
DYSFUNCTION DETECTED ON THE MOTOR EXAMINATION.
• MOTOR EXAMINATION INVOLVES OBSERVATION OF MUSCLE BULK, SPONTANEOUS ACTIVE
MOVEMENTS, MOVEMENTS IN RESPONSE TO STIMULATION, AS WELL AS ASSESSMENT OF
MUSCLE TONE BY PALPATION.
54

55. • FURTHER INFORMATION REGARDING THE LEVEL OF NEUROLOGICAL DYSFUNCTION
CAN BE OBTAINED FROM EVALUATION OF HIP AND FOOT DEFORMITIES. IF THE
DISPARITY IN SEGMENTAL LEVEL BETWEEN THE 2 SIDES IS MORE THAN 1 LEVEL,
AN OCCULT NEUROLOGICAL PROBLEM MUST BE SUSPECTED (E.G., HEMIMYELIA).
• THE SPINE SHOULD BE EXAMINED CAREFULLY, WITH DETERMINATION OF THE SIZE
AND SITE OF THE LESION. THE SHAPE OF THE DEFECT, SIZE OF THE PLACODE, AND
HEALTH AND LAXITY OF THE SURROUNDING SKIN AND SOFT TISSUE SHOULD BE
NOTED CAREFULLY. THE PRESENCE OF EARLY SPINAL DEFORMITY (E.G.,
KYPHOSIS) ALSO SHOULD BE ASSESSED.
• OTHER COMMON FINDINGS INCLUDE ORAL CLEFTS AND RENAL,
CARDIOVASCULAR, AND MUSCULOSKELETAL MALFORMATIONS.
SIGNS
55

56. WORKUP
• LABORATORY TESTS:
• MATERNAL SERUM ALPHA-FETOPROTEIN CAN BE MEASURED IN MATERNAL SERUM
(MSAFP), AMNIOTIC FLUID, AND FOETAL PLASMA. IT IS TYPICALLY MEASURED
AROUND 16–18 WEEKS' GESTATION. MSAFP IS A FOETAL-SPECIFIC PROTEIN
SYNTHESIZED BY THE FOETAL YOLK SAC, GI TRACT, AND LIVER. INTERPRETATION
OF RESULTS VARIES BY INSTITUTION, BUT TYPICALLY LEVELS 2–2.5-FOLD ABOVE
AVERAGE (FOR A PARTICULAR GESTATIONAL AGE) IS CONSIDERED ABNORMAL.
HOWEVER, MANY FACTORS, BOTH FOETAL AND MATERNAL, CAN AFFECT
INTERPRETATION OF RESULTS. ABNORMAL MSAFP TESTS ARE TYPICALLY
FOLLOWED BY AN ULTRASOUND EXAM TO ASSESS FOR POSSIBLE NTD, CONFIRM
GESTATIONAL AGE, FOETAL VIABILITY, NUMBER OF FOETUSES, AND SO ON.
• GENETIC COUNSELLING AND FURTHER TESTING WITH AMNIOCENTESIS MAY BE
INDICATED FOR EQUIVOCAL MSAFP AND ULTRASOUND FINDINGS. 56

57. IMAGING STUDIES
• ULTRASONOGRAPHY IS USED ANTENATALLY FOR NEURAL TUBE DEFECT (NTD) SCREENING.
ALL PREGNANT WOMEN SHOULD BE OFFERED SCREENING FOR NTDS VIA ULTRASOUND.
POSTNATALLY, ITS ROLE HAS BEEN LIMITED BECAUSE OF ADVANCES IN OTHER IMAGING
MODALITIES. IT IS ALSO HELPFUL FOR QUICKLY SCREENING FOR HYDROCEPHALUS.
• MRI IS THE STUDY OF CHOICE FOR IMAGING NEURAL TISSUE AND FOR IDENTIFYING
CONTENTS OF THE DEFECT IN THE NEWBORN. THIS IS NOT ROUTINELY PERFORMED IN THE
NEONATE UNLESS UNUSUAL DEFICITS NOT ASSOCIATED WITH THE OPEN DEFECT ARE
PRESENT. THIS ALLOWS FOR VISUALIZATION OF ASSOCIATED ANOMALIES, BOTH
INTRASPINAL AND INTRACRANIAL.
• CT SCAN ALLOWS DIRECT VISUALIZATION OF THE BONY DEFECT AND ANATOMY. THIS STUDY
IS ALSO USED TO DETERMINE THE PRESENCE OR ABSENCE OF HYDROCEPHALUS OR OTHER
INTRACRANIAL ANOMALIES, ALTHOUGH EXPOSURE OF YOUNG CHILDREN TO RADIATION
FROM CT STUDIES SHOULD BE CONSIDERED. HENCE, THE USE OF CT SCAN IS USUALLY
RESERVED FOR ADULTS OR OLDER KIDS WITH SPINA BIFIDA OCCULTA.
57

58. TREATMENT
1. MEDICAL CARE
2. SURGICAL CARE
3. CONSULTATIONS:CONSULTATION WITH THE FOLLOWING MAY PROVE HELPFUL:
i. NEUROSURGEON
ii. UROLOGIST
iii. ORTHOPAEDIST
iv. PHYSICAL THERAPIST
v. PLASTIC SURGEON (IN SOME CASES)
• ACTIVITY IS LIMITED BY THE DEGREE OF INVOLVEMENT
58

59. PREVENTION
• THE ADDITION OF NUTRIENTS (NOTABLY FOLIC ACID, VITAMIN C, AND
RIBOFLAVIN) TO COMMON FOODS, SUCH AS CEREALS AND GRAIN
PRODUCTS, HAS SIGNIFICANTLY DECREASED THE INCIDENCE OF
NEURAL TUBE DEFECTS (NTDS) GLOBALLY. NOTABLY, ADEQUATE
LEVELS OF FOLATE INTAKE ARE IMPORTANT DURING THE FIRST
MONTH OF PREGNANCY, PARTICULARLY GIVEN THE EARLY PHASES OF
NEURULATION.
• THE METABOLIC PATHWAYS AND ROLE OF FOLATE IN NEURULATION
REMAINS UNCLEAR, HOWEVER, STUDIES HAVE DEMONSTRATED THAT
FOLATE HAS A DIRECT ROLE IN NEURAL TUBE CLOSURE.
59

60. PROGNOSIS
• DESPITE AGGRESSIVE MEDICAL CARE, 10–15% OF THESE CHILDREN DIE PRIOR TO
REACHING THE FIRST GRADE. HOWEVER, MOST CHILDREN WITH ISOLATED
MYELOMENINGOCELE (WITHOUT MAJOR ANOMALIES OF OTHER ORGANS) SURVIVE
TO ADULTHOOD, AND LIFE EXPECTANCY IS NEARLY NORMAL.
• SIXTY PER CENT HAVE NORMAL INTELLIGENCE, ALTHOUGH OF THESE, 60% HAVE
SOME LEARNING DISABILITY (MATH AND PROBLEM SOLVING BEING PARTICULARLY
DIFFICULT).
• ATTENTION DEFICIT DISORDER WITHOUT HYPERACTIVITY ALSO HAS BEEN
DESCRIBED IN THESE CHILDREN.
• HYDROCEPHALUS IS PRESENT IN 85% BUT BEARS LITTLE RELATIONSHIP TO
INTELLIGENCE.
• ABOUT 80% ARE SOCIALLY CONTINENT (ALTHOUGH MANY REQUIRE CLEAN
INTERMITTENT CATHETERIZATION). 60

61. THANKS
61