Post on 02-Jun-2018
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CONGINITAL
DISORDERS
Prof. Dr. Moh Hasan Machfoed, dr, Sp S(K), MS
Department of Neurology
School of Medicine
Airlangga UniversityDr. Soetomo Hospital Surabaya
Mobil Phone: 0812-353-8163E-mail: mhasanmachfoed@yahoo.com
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TOPICS:
1. Hydrocephalus
2. Phenylketonuria PKU)
3. Spina Bifida
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HYDROCEPHALUS
Definition:Hydrocepalus is an increased volume of
CSF within the ventricles, which is
enlarged.
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PATHOPHYSIOLOGY
Tumor
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COMMON CAUSES
TYPESCOMMUNI
CATING
NON COMMUNI
CATING
CongenitalNeonatal
ventricular
haemorhage
-Aquaduct stenosis
or atresia
-Ependimal cyst
-Suprasellar arach
noid cyst-Chiari malformation
Acquired
-Meningitis
-Post nose, sinus
and midle ear
infection-Trauma (SAH)
-Posterior fossa tumor
-Colloid cyst (Vent III)
-Pineal region tumor
-Chronic ventriculitis-Acute IVH
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CLINICAL FEATURES
Infant ToddlerChildren and
adults
-Head enlargement
-Fontanelle tense
and bulging
-Scalp vein prominent
-Fever
-Vomiting-Sleepiness
-Setting sun eyes
-Seizzure
-Splitting sutures
-Crackpotpercussion note
-Head enlargement
-Fever
-Vomiting
-Headache
-Irritability/sleepiness
-Loss of previousabilities
-Fever
-Vomiting
-Headache
-Loss of co-
ordination/
balance-Decline in acad
performance
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DIAGNOSIS
Occipitofrontal circumference measures
USG when fontanele still open
Skull Ro split suture, pineal deviation, erotion of
dorsum sella, calcification in tumour and tuberculoma.
CT Scan or MRI Ventriculogram degree and site of the block.
DIFFERENTIAL DIAGNOSIS
Megancephaly (head enlargement without increased
intra cranial pressure)
Subarchnoid space enlargement
Hemimegancephali.
MANAGEMENT
Diuretics
Shunting
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Phenylketonuria
PKU)Phenylketonuria are heterogenous group
of conditions characterized by the
development of hyperphenylalaninemiain respon to a normal diet
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ETIOLOY
PKU inherited autosomal recessive
Mutation of phenylalanin hydroxilase Chromosome 12
Biochemical phenotype of PKU:
Absent or reduced of phenylalanin hydroxilase
Absent or reduced of dihydropteridine reductase (for
phenylalanine hydroxylation). Metabolic abnormality brain damage not clearly
understood.
Phenyl-
alanine O2Tyrosine
Phenylalanine hydroxylase
Phenyl-alanine O2
phenylalaninehydroxylation
dihydropteridine reductase
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Prevalence: 1/10.000
Progressive developmental delay IQ < 60
Seizzure
Microcephaly, spasticity,hyperreflexia, gait disturbance
Parkinsonism Eczema in 30% cases
Clinical features
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Diagnostic Procedures1. Urine + Ferrichloride green
2. Filter paper phenylalanin content byfluorometric or microbiologic technique
- Mature infant 24 hr after milk feeding
-
Prematures 5-7 day of life3. Phenylalanine level biochemical
phenotype of PKU
4. MRI demyelination (assosiated with
phenylalanin level at the time ofexamination).
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Low phenylalanin diet
Pregnant women +PKU lowphenylalanin diet
Low phenylalanin diet change
prognosis of PKU
Early treatment Prevent MR
TREATMENT
PROGNOSIS
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Low phenylalanin diet
The diet for PKU consists of aphenylalanine-free medical formula and
carefully measured amounts of fruits,
vegetables, bread, pasta, and cereals.
Many people who follow a low
phenylalanine (phe) food pattern eat
special low protein breads and pastas.
They are nearly free of phe, allow greaterfreedom in food choices, and provideenergy and variety in the food pattern.
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Spina
Bifida
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SPINA BIFIDAGroup of disorders
including failure of
development of
vertebral arches and
abnormalities in the
development ofstructures derived
from the neural tube& the meninges.
Neural tube defect (NTD): congenital anomaly,abnormal closure of the neural tube.
Incidence: 1-2 / 1000 live birth
More common in caucasian than asian/african
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- Previous pregnant
with NTD : 2-3%
- Patner with NTD:
2-3%
-
Type 1 DM: 1%
AETIOLOGY/
RISK FACTORS
- Epilepsy taking Carbamazepine or valproat: 1%
- Family history with NTD: 0.3-1%
- Obessity (weight>110kg): 0.2%
-Folate deficiency
Non medical risk factors: Pesticide, Desinfectan,
Radiation, Anesthesi, Hipertemia, Lead, Cigarrete
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PATHOPHYSIOLOGY
The neural groove is a shallow between the neural folds.
The neural folds are two longitudinal ridges that are caused by a folding up
of the ectoderm.
The groove gradually deepens as the neural folds become elevated, and
ultimately the folds meet and coalesce in the middle line and convert thegroove into a closed tube, the neural tube or canal, the ectodermal wall of
which forms the rudiment of the nervous system.
Before the neural groove is closed a ridge of ectodermal cells appears
along the prominent margin of each neural fold; this is termed the neural
crest or ganglion ridge, and from it the spinal and cranial nerve ganglia and
the ganglia of the sympathetic nervous system are developed.
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PATHOPHYSIOLOGY
Anencephali
Encephalocele
Spina bifida
The cephalic end of the neural groove exhibits several dilatations, which,
when the tube is closed, assume the form of three vesicles; these
constitute the three primary cerebral vesicles, and correspond
respectively to the future fore-brain (prosencephalon), mid-brain
(mesencephalon), and hind-brain (rhombencephalon). The walls of the vesicles are developed into the nervous tissue and
neuroglia of the brain, and their cavities are modified to form its ventricles.
The remainder of the tube forms the medulla spinalis or spinal cord; from
its ectodermal wall the nervous and neuroglial elements of the medulla
spinalis are developed while the cavity persists as the central canal.[2]
http://en.wikipedia.org/wiki/Neural_groovehttp://en.wikipedia.org/wiki/Neural_groove8/10/2019 09. Congenital Disorder
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LINICAL DEVELOPMENT
Lamina
fussion
failure (Spinabifida
occulta)
Cystic swelling of dura and arachnoid protruding
through a defect in the vertebral arches (meningocele).
Cystic swelling lined by dura and arachnoid, protruding
through a defect in the vertebral arches which spinal
cord & nerve roots are carried out into the fundus of the
sac (myelomeningocele).
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LINICAL PRESENTATION
SPINA BIFIDA OCCULTA
Vertebrae replacing by connective tissues.
Vertebral defects can be detected by plain
x-ray. Neurologically is normal. 30% suffering
from LBP (when adult)
MENINGOCELE AND MYELOMENINGOCELE
Prognosis of meningocele is better than
myelomeningocele. The 2 conditions should be operated to
avoid infection/meningitis (especially for
opened cele)
SPINAL DYSRAPHISM (SD)
SD is a vertebral bulging accompanied byvertebral abnormality filled with intra dural
epidermoid cyct, lipoma or teratoma.
LBP, scoliosis, autonomic dysfunction due
to the spinal cord entrapment.
Operation is very helpful to support the
normal development of children.Spinal Dysraphism
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DIAGNOSIS
Pre natal
-
Maternal Serum AlphaFeto Protein (MS AFP)
increase 2.5 fold
- USG NTD (near 100%)
-Amniocentesis if MS
AFP and USG abnormal
Post natal- Physical examination abnormality in
posterior vertebra
- Radiologist defect vertebra.
AFP NTD indicator
norma y
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norma yascociation with
spina bifida
Agenesis corpus callosum, Dysmorphic ventrikel lateralis,
Abnormality of kidney, Congenital hearth disease, Face
abnormality.
PREVENTION:
Recomendation for early pregnancy folic acid suplementation:
Women without risk factors : 0.4mg/hr
High risk women : 4 mg/hr
TREATMENT:Surgery
Hydrocephalus, Chiari type II
(medulla displacement to
spinal cord, cerebel
hemisph herniation to
foram magnum + non-com
hydrocep),
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TERIMA KASIH
M H M 21 03 2013
A Happy Family