Congenital Spine

Deformity
NURYANI SIDARTA

Spina Bifida

MENJELANG AKHIR MINGGU KE 4, SSP

BERUJUD SEBAGAI TABUNG TERTUTUP
YANG TERPISAH DARI EKTODERM YANG
MENUTUPINYA
KADANG-KADANG ALUR SARAF TIDAK
MENUTUP SEMPURNA
BILA TIDAK TERJADI PENUTUPAN YANG
SEMPURNA DI MEDULLA SPINALIS MAKA
DISEBUT SPINA BIFIDA

Spina Bifida
Definisi
Abnormalitas tulang belakang dimana terjadi
penutupan tulang yang tidak sempurna dari 1
atau lebih lengkung neural (neural tube defect)
Paling sering: daerah lumbosakral

Etiologi
Genetik
- kurangnya intake asam folat
Terdiri dari beberapa tipe
-

Spina Bifida

2 PER ( 1000 BIRTHS (US)

0.3 PER 1000 BIRTH (JAPAN)
4.5 PER 1000 BIRTH (BRITISH)
SOME EVIDENCE OF SEASONAL
VARIATION
CONCEPTION IN MARCH AND MAY

Spina Bifida

MORE COMMON IN FEMALES THAN MALES

HIGHER IN CELTIC ORIGIN
RARE IN BLACK AND ASIANS
LOWER SOCIAL CLASS
HYPERTERMIA IN FIRST SEMESTER
NUTRITIONAL DEFICIECIES : FOLIC ACID
AND VITAMIN A
GENETIC CONSIDERATION

SPINA BIFIDA

TYPE OF SPINA BIFIDA

SPINA BIFIDA OCCULTA

SPINA BIFIDA CYSTICA

SPINA BIFIDA OCCULTA

CHARACTERIZED BY A FAILURA OF
ONE OR MORE OF THE VERTEBRAL
ARCHES TO MEET AND FUSE IN THE
THIRD MONTHS OF DEVELOPMENT
THE SPINAL CORD AND MENINGES
ARE UNHARMED AND REMAIN
WITHIN THE VERTEBRA CANAL

SPINA BIFIDA OCCULTA

THE BONY DEFECT IS COVERED WITH

SKIN THAT MAY BE MARKED WITH A
DIMPLE, PIGMENTATION, OR PATCH OF
HAIR
THE COMMON SITE : LUMBOSACRAL AREA
USUALLY ASSOCIATED WITH NO
DISTURBANCE OF NEUROLOGICAL OR
MUSCULOSKELETAL FUNCTIONING

SPINA BIFIDA CYSTICA

RESULTS WHEN THE NEURAL AND

OVERLYING VERTEBRA ARCHES FAIL
TO CLOSE APPROPRIATELY
THERE IS A CYSTIC PROTRUSION OF
THE MENINGES OR OF THE SPINAL
CORD AND MENINGES THROUH THE
DEFECTIVE VERTEBRAL ARCHES

TYPE OF S.B. CYSTICA

MENINGOCELE
MYELOCELE OR MYELOCYSTOCELE
MYELOMENINGOCELE

MENINGOCELE

INVOLVES PROTRUSION OF THE

MENINGES AND CEREBROSPINAL
FLUID ONLY INTO THE CYSTIC SAC
THE SPINAL CORD REMAIN WITHIN
THE VERTEBRAL CANAL
RELATIVELY UNCOMMON

MYELOCELE

PRESENT WHEN THE CENTRAL CANAL

OF THE SPINAL CORD IS DILATED
PRODUCING A LARGE SKIN COVERED
CYST
THE NEURAL TUBE APPEARS TO CLOSE
NORMALLY BUT IS DISTENDED FROM
THE CYSTIC SWELLING
RARE

MENINGOMYELOCELE

MOST COMMON (94%) AND SEVERE FORM

BOTH SPINAL CORD AND MENINGES ARE
CONTAINED IN THE CYSTIC SAC
SENSORY AND MOTOR IMPAIRMENT AT THE
LEVEL OF THE LESSION AND BELOW
MOST COMMON IN THORACIS AND
LUMBOSACRAL REGION
50% : HIDROCEPHALUS

OTHER FORM OF S.B

DISTEMATOMYELIA
LIPOMENINGOCELE
SACRAL AGENESIS

DIASTEMATOMYELIA

30-40%
IS SECONDARY TO PARTIAL OR
COMPLETE CLEFTING OF THE SPINAL
CORD

LIPOMENINGOCELE

USUALLY DUE TO A VERTEBRAL

DEFECT ASSOCIATED WITH A
SUPERFICIAL FATTY MASS THAT
MERGES WITH THE LOWER LEVEL OF
SPINAL CORD
PROBLEM WITH URINARY CONTROL
AND MOTOR CONTROL OF THE
LOWER EXTREMITIES

LUMBOSACRAL AGENESIS

THE ABSENT OF THE CAUDAL PART OF

THE SPINE AND SACRUM
NARROW FLATTENED BUTTOCOKS,
WEAK GLUTEAL MUSCLES AND
SHORTENED INTERGLUTEAL CLEFT
NORMAL LUMBAR LORDOSIS IS ABSENT
CHILDREN MAY HAVE SCOLIOSIS,
MOTOR AND SENSORY LOSS

VISCERAL ABNORMALITIES,
INCLUDING ANAL ATRESIA, FUSED
KIDNEY, AND CONGENITAL HEART
MALFORMATIONS

SACRAL AGENESIS

DIAGNOSIS
Anamnesis:
Gangguan berkemih/BAB
Gangguan gerak/ berjalan
Pemeriksaan Fisik:
Benjolan pada tulang belakang
Kulit: dimple, hairy patch, pigmentasi, hemangioma
Gangguan motorik ekstremitas bawah
(LMN/UMN/Mix)
Gangguan sensorik
Hidrosefalus

Pemeriksaan Penunjang:
X-ray: defek pada tulang belakang
Alfa feto protein serum meningkat saat hamil

Tata Laksana:
Waspadai: infeksi CSS operasi penutupan defek
hidrosefalus operasi pasang VP shunt
Gangguan sensorik: edukasi pencegahan ulcus
decubitus
mika, miki
Gangguan motorik: edukasi pencegahan kontraktur
Inkontinensia urin: analisis urin

DETECTION

AMNIOCENTESIS
PRESENT OF SIGNIFICANT LEVELS OF
ALPHA FETOPROTEIN IN THE
AMNIOTIC FLUID
80%
PRENATAL SCREENING WITH USG

MALALIGNMENT OF
VERTEBRA

WHAT IS PATHOLOGICAL
CURVE?

THE DEFORMITY OF THE SPINE IN

ONE OR MORE OF ITS PLANES OF
MOVEMENT

KYPHOSIS

ABNORMAL CURVE OF THE SPINE IN

THE SAGITAL CURVES WITH A
POSTERIOR VERTEX (CONCAVE
ANTERIORLY)

KYPHOTIC THORACAL

KYPHOSIS

NORMAL RANGE : 20-50 DEGREE

(SRS)
FON ET ALL : KYPHOSIS INCREASES
ABOUT 4 TO 5 DEGREEE OVER
CHILDHOOD TO THE END OF
ADOLESCENCE

SCHEUERMANN DISEASE

PAINLESS EXAGGERATED THORACIS

KYPHOSIS
WITH COMPENSATORY LUMBER
HYPERLORDOSIS
ETIOLOGY : UNCERTAIN
APPEAR TO BE A FAMILIAL LINK
DUE TO REPETITIVE LOADING OF THE
IMMATURE SPINE

RADIOGRAPHIC CRITERIA

ANTERIOR WEDGING OF AT LEAST

THREE ADJACENT VERTEBRA
END PLATE IRREGULARITIES
SCHMORLS NODES
DISC SPACE NARROWING

LORDOSIS

AN ABNORMAL CURVE OF THE SPINE

IN SAGITAL PLANE WITH EXCESSIVE
POSTERIOR BENDING
LUMBAR LORDOSIS : 31-79 DEGREE
(SRS)

HYPERLORDOTIC LUMBAL

HYPERLORDOTIC LUMBAL

SCOLIOSIS

GALEN
DERIVED FROM THE GREEK WORD :
SKOLIOS MEANING BENT, TWISTED
OR CURVED
GALEN : ABNORMAL CURVE OF THE
SPINE IN THE CORONAL PLATES
IDIOPATHIC SCOLIOSIS : 0.3-2%

SCOLIOSIS
SCOLIOSIS RESEARCH SOCIETY
ANY CURVE THAT IS GREATER THAN
OR EQUAL TO 10 DEGREES, WITH OR
WITHOUT A ROTATORY COMPONENT

CONGENITAL SCOLIOSIS

DISORDER OF BONY FUNCTION

DISORDER OF ELASTIC TISSUE
DYSFUNCTION
DISORDER OF NEUROMUSCULAR
DYSFUNCTION

DISORDER OF BONY
DYSFUNCTION

CONGENITAL
THE ABNORMALIES ARE PRESENT AT BIRTH
CLINICAL EVIDENCE OCCURS WHEN THE
CHILD GROWS
ONE PART OF THE VERTEBRAL COLUMN
GROWS FASTER THAN ANOTHER
FAILURE IN FORMATION OR IN
SEGEMENTATION OR BOT

HEMIVERTEBRA

DEFECT IN FORMATION
20-40% ALSO ASSOCIATED WITH GENETIC
DISORDER SUCH AS GENITURINARY
ANOMALIES, CARDIAC ANOMALIES, KLIPPEL
FEIL SYNDROME AND SPONDYLOTHORACIS
DYSPLASIA
47% SHOW MILD TO MODERATE
PROGRESSION
ONLY 38% SHOWED SEVERE

DISORDER OF
SEGMENTATION

DISORDER OF FORMATION
(HEMIVERTEBRA)

SCOLIOS CAUSED BY
ELASTIC TISSUE
DYSFUNCTION

OSTEOGENESIS IMPERFECTA
ACHONDROPLASIA
MARFAN SYNDROME
EHLERS-DANLOS SYNDROME

MARFAN SYNDROME

AUTOSOMAL DOMINANT SYNDROM

RESULTS FROM A DEFECT IN THE
FIBRILLAR GENE AT CHROMOSOM 15q21
DIFFUSE JOINT LAXITY AND LONG LIMB
SCOLIOSIS : 52%, IN THORACIC AND
LUMBAR REGION
RISK FOR SEVERE CURVES

MARFAN SYNDROME

SCOLIOSIS RESULTING FROM

NEUROMUSCULAR DYSFUNCTION

SPINAL MUSCULAR ATROPHY

CHARCOT MARIE TOOTH
CEREBRAL PALSY
MULTISYSTEM INVOLVEMENT
PRESENCE OF CONTRACTION HIP, HIP
DISLOCATIONS, SENSORY
ABNORMALITIES, AND MENTAL
RETARDATION AND PRESSURE ULCERS

IDIOPATHIC SCOLIOSIS

1.5-3%
ASYMETRIC ABNORMALITIES IN
DELTOID MUSCLES
DIFFERENCES LATERALIZATION
BALANCE AND VESTIBULAR
FUNCTION
LLD 1.2-5.2 CM

IDIOPATHIC SCOLIOSIS

INFANTILE :<3 YEAR

JUVENILLE : 3-10 YEAR
ADOLESCENT : 10 YEAR-SKELETAL
MATURITY

INFANTILE

< 3 YEAR
1%
MALES >FEMALES
COMMON CURVE PATTERN : T OR T-L
MAY SPONTANEOUSLY RESOLVE

JUVENILLE

3-10 YEAR
12-215
EQUAL UNTIL 6 YEARS THEN 1:8
COMMON CURVE : T, T-L
USUALLY WILL NOT SPONTANEOUSLY
RESOLVE

JUVENILE IDIOPATHIC
SCOLIOSIS

TO BE ASSOCIATED WITH ADULT COR

PULMONALE AND EATH
TREATMENT SHOULD BEGIN WHEN
CURVES REACH APPROXIMATELY 25
DEGREE

ADOLESCENT IDIOPATHIC
SCOLIOSIS

10 YEAR SKELETAL MATURITY

80-90%
MALE : FEMALE : 1:5
COMMON CURVE : T,T-L
DEPENDENT ON AGE OF ONSET AND
SIZE OF CURVE

MANAGEMENT

EXERCISE
PHYSICAL MODALITIES
ORTHOTIC MANAGEMENT
SURGERY

SELAMAT BELAJAR