Genetic and

congenital
nervous
system
disorders

dr. Kurniawati Arifah, M.Sc, Sp.A

KSM Ilmu Kesehatan Anak RSUD Prof. Dr.

Margono Soekarjo Purwokerto/ FK
Universitas Jendral Soedirman
Spina Bifida
Hidrosefalus
Phenylketonuria

Inborn error of metabolism or

inherited metabolic disorder
Phenylketonuria

– Deficiency of the
enzyme
phelinalanine
hydroxylase or of its
cofactor
tetrahydrobiopterin
 accumulation of
phenylalanine in
body fluid and the
brain
 Phenylketonuria

– Classic : infants is normal at birth, profound intellectual disability

develops gradually. IQ < 35 (88-90%), vomiting, hyperactive with
autistic behavior, unpleasant odor of phenyl acetic acid (musty
or mousey), eczematous rash. Neurologic disorders : seizures,
spasticity, hyperreflexia, tremors, abnormality on EEG.
– Newborn screening
Duchenne Muscular
dystrophy

Muscular dystrophy
DMD

– Dystrophy : abnormal growth.

– Muscular dystrophy  primary myopathy, genetic basis,
the course of disease is progressive, degeneration and
death of muscle fibers occur at some stage in the disease.
– The most common, incidence 1 : 3600 liveborn infant boys
DMD

– X-linked recessive trait

DMD

– Infant boys are rarely

symptomatic at birth or early
infancy
– Hip girdle weakness at 2
years
– Goer sign at 3 years and fully
expressed by 5 or 6 years
– Tredelenburg gait or hip
waddle
DMD

– Toddlers : delayed walking,

falling, toe walking, trouble
running or walking upstairs,
developmental delay
– Confined in wheelchair by age
7 years
– Function of distal muscles is
relatively well enough
preserved
DMD

– Contractures
– Scoliosis
– Cardiomyopathy : persistent tachycardia and myocardial
failure
– Intellectual impairment
– Lab : elevated CK level, PCR, muscle biopsy
Cerebral palsy

Encephalopathies
Cerebral palsy

– Encephalopathy is generalized disorder of cerebral function

that may be acute or chronic, progressive, or static.
– Etiologies : infectious, toxic, metabolic, genetic, ischemic
– A group of permanent disorder of movement and posture
causing activity limitation and attributed to nonprogressive
disturbance in the developing fetal or infant brain.
– 3.6 per 1000 children, male : female = 1.4 : 1
– Premature infant low birth weight  develop CP in 15 per
100 due to ICH and PVL
Clinical characteristic

– Clinical characteristic: mixed hypertonia of the pyramidal

type with:
– Increased deep tendon reflexes, clonus, positive Babinski
sign and the tendency for permanent deformities
– Depending on the topographical distribution
monoplegia, hemiplegia or tetraplegia
Cerebral palsy

– Motor disorders
– Cognitive disorder
– Behavior disorder
– Orthopedic complications : scoliosis, hip dislocation
Classification of Cerebral Palsy and Major Causes
Forms of Spastic Cerebral Palsy

• Spastic Hemiplegia
• Spastic Paraplegia
• Spastic Diplegia
• Spastic Quadriplegia
CP: Spastik Quadriplegi

Fisting

“Scissoring”
of lower limbs
CP: Spastic Diplegia

Contractures
of hips, knees,
and feet
(talipes
equinovarus)
 CP: Spastic Hemiplegia

Hemiplegia on the
right side.

Contractures of
hip, knee and foot
CP: Athetoid

Persistent
asymmetric
tonic
neck reflex
CP

Early signs of CP
Muscle tone alterations: hypotonia, scissoring, fisting,
opisthotonic posturing, passive resistance to stretch,
dystonia
Persistence of primitive reflexes: Moro, asymmetric tonic neck
reflex, crossed extensor reflex, persisting support reflex,
placement reflex
CP

Asymmetric neurologic signs: tone, parachute reflex,

handedness before 12 months, asymmetric placing
reaction, asymmetry of upper-lower limbs
Deep tendon reflexes: sustained clonus, persistent crossed
abductor reflex
Associated problems
– Visual disturbances
– Hearing problems
– Sensory deficit
– Speech disturbances
– Learning disabilities
– Mental retardation
– Epilepsy
– Psychologic-Psychiatric problems
Gross Motor Function Classification
System (GMFCS): classification levels

• GMFCS Level I – walks without limitations.

• GMFCS Level II – walks with limitations. Limitations include walking
long distances and balancing, but not as able as Level I to run or jump;
may require use of mobility devices when first learning to walk, usually
prior to age 4; and may rely on wheeled mobility equipment when
outside of home for traveling long distances.
• GMFCS Level III – walks with adaptive equipment assistance.
Requires hand-held mobility assistance to walk indoors, while utilizing
wheeled mobility outdoors, in the community and at school; can sit on
own or with limited external support; and has some independence in
standing transfers.
Gross Motor Function Classification
System (GMFCS): classification levels

– GMFCS Level IV – self-mobility with use of powered mobility

assistance. Usually supported when sitting; self-mobility is
limited; and likely to be transported in manual wheelchair or
powered mobility.
– GMFCS Level V – severe head and trunk control limitations.
Requires extensive use of assisted technology and physical
assistance; and transported in a manual wheelchair, unless
self-mobility can be achieved by learning to operate a powered
wheelchair.
Neurofibromatosis

Neurocutaneous syndrome
Neurofibromatosis

– Heterogeneous group of disorders characterized by

abnormalities of both the integument and central nervous
system
– Autosomal dominant disorder that cause tumors to grow
on nerves and result in other abnormalities such as skin
changes and bone deformities
– NF 1 and NF 2
Neurofibromatosis
 Neurofibromatosis 1

– 1 : 3000
– Clinical features (2 of 7):
– >= 6 café-au-lait macules larger than 5 mm in prepubertal and 15 mm in postpubertal
individuals
– Axillary or inguinal freckling consisting of multiple hyperpigmented area 2-3 mm in diameter
– Two or more Lisch nodules, hamartomas located within the iris
– Two or more neurofibroma or 1 plexiform neurofibroma
– Distinctive osseus lesion such as sphenoid dysplasia or cortical thinning of long bones
– Optic gliomas
– First degree relative with NF-1
Neurofibromatosis
Neurofibromatosis-2

– 1 : 25.000
– Clinical features (1 of 4):
– Bilateral vestibular schwannoma
– A parent, sibling, or child with NF-2 and either unilateral vestibular
schwannoma or any 2 of the following : meningioma, schwannoma,
glioma, neurofibroma, posterior subcapsular lenticular opacities
– Unilateral vestibular schwannoma any 2 of the following :
meningioma, schwannoma, glioma, neurofibroma, posterior
subcapsular lenticular opacities
– Multiple meningiomas (2 or more) and unilateral vestibular
schwannoma or any 2 of the following : schwannoma,
– Neurologic complication
– Learning disability
– Seizure
– Transient cerebrovascular ischemic attack
– Hemiparesis
– Cognitive defect