3.
Neurodegenerative disorders of childhood encompass a
large, heterogeneous group of diseases that result from
specific genetic and biochemical defects, chronic viral
infections, and varied unknown causes
The hallmark of a neurodegenerative disease is
regression and progressive deterioration of
neurologic function with loss of speech, vision,
hearing, or locomotion, often associated with seizures,
feeding difficulties, and impairment of intellect
6. History
Till what age the child was normal
Type of onset
Any precipitating factor
Course of illness ; Usually later the first signs appear, the
slower the disease progresses
Videotapes and photographs of the child’s appearance and
performance at earlier ages should be reviewed
7.
History of present illness:
Onset/Age of onset
Fits ,Clumsiness or difficulty in gait
Deterioration of HMF
Ataxia or imbalance
Headache,Blindness,Vomiting, deafness
Change in personality and behaviour
Deteriorance in school performance
Increased startle response or hyperacusis
8. Below 2 years
Failure to thrive, seizures, and inability to sit and stand
at 1 year and to speak in short sentences at 2 years.
School-aged child
regresses in language skills and withdraws socially
Older children and adolescents,
gait difficulties
and loss of vision and intellectual facilities
.
9. prenatal and perinatal histories are important, as they
help determine whether the disorder is congenital or
whether it began at some later time.
development: feeding, sleep, motor milestones,
expressive and receptive language, behavior, social
attainment
Family History and mode of inheritance
previous affected siblings, even when the diagnosis
seems to be unrelated such as neonatal sepsis, sudden
infant death
10. Head circumference
Macrocephaly
Alexander disease
Tay-Sachs disease
Canavan disease
Sandhoff’s disease
Glutaricaciduria type I
Microcephaly
Neuronal ceroid
lepofuscinises
Krabbe s disease
41.
Initial attainment of milestones and subsequent slowing
of development
Regression of previously acquired milestones
Family history of similar disease
Unusual body odors
Movement disorder
45. Peripheral Neuropathy
Not seen
Seen in some case
Retinitis pigmentosa with
consecutive optic atrophy
May or may not
absent
Primary optic atrophy
rare
May be seen
Electroretinogram
May be abnormal
normal
Visual evoked response
And BERA
Usually normal
abnormal
46. Screen for remendiable process
1.Rule out hydrocephalus
2.Rule out Hypothyriodism
3.Rule out aminoacidoaminopathy or organic aciduria
Visceromegaly
56.
Gray matter disease
Bone marrow for storage cells ;
Niemann pick - vacuolated foam cells
Gaucher disease- crumpled paper appearance
Urine copper , serum ceruloplasmin
Hair microscope – Menke kinky
conjunctival , skin , rectal biopsy- NCL(fingerprint bodies)
Enzyme analysis in leukocytes , skin fibroblast- Lysosomal storage
disease
Urine MPS and skeletal survey
Serum and CSF lactate and pyruvate for mitochondrial disease
CSF antimeasles antiibodies
HIV Elisa
57.
White matter disease
Aryl sulfates assay –MLD
VLCFA for Adrenoleukodystrophy
N Acetyl aspartic acid – canavan s disease
Galactocereamidase – Krabbe’s
58.
Directed towards the treatment of the underlying
disorder, other associated features and complications
Supportive :The treatable complications :
feeding difficulties, Gastoresophageal reflux
spasticity, drooling
skeletal deformities, and recurrent chest infections
epilepsy, sleep disorder, behavioral symptoms
A multidisciplinary approach(pediatrics, neurology,
genetics, orthopedics, physiotherapy, and occupational
therapy.
59. Neurodegenerative
disorders
Specific treatment modality
Krabbe leukodystrophy
Bone marrow transplantation
Metachromatic leukodystrophy
Bone marrow transplantation
Adrenoleukodystrophy
Lorenzo s oil ;Glyceryl trioleate and
trierucate,steroids for adrenal insufficiency, diet low
in VLCFA, bone marrow
transplantation
Mucopolysaccharidosis
Bone marrow transplantation,
Enzyme replacement therapy
Menkes kinky hair syndrome
Copper Histidine
60. Neurodegenerative
Specific treatment modality
disorders
Mitochondrial encephalopathies
Nicotinamide, riboflavin,
dichloroacetate, L-carnitine, CoQ10
Wilson disease
D- penicillamine, trietine, zinc acetate,
liver transplantation
Refsum disease
Reduction of phytanic acid intake
Lesch-Nyhan disease
Allopurinol
Fabry’s Disease
Recombinant human α galactosidase A
61.
A precise history confirms regression of developmental
milestones, and the neurologic examination localizes
the process within the nervous system.
Outcome of a neurodegenerative condition is usually
fatal and available therapies are often limited in effect
It is important to make the correct diagnosis so that
genetic counselling may be offered and prevention
strategies can be implemented.
62.
Onset of inherited disease can occur at any age
Bone marrow transplantation and other novel therapies
may prevent the progression of disease in certain
presymptomatic individuals
63.
Nelson textbook of Pediatrics
Fenichel Pediatric Neurology
Approach to Neurodegenerative Disease IJP 1990
Veena Kalra Practical Pediatric Neurology