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APPROACH TO NEURODEGENERATIVE DISORDERS IN CHILDHOOD.pptx
- 1. APPROACH TO NEURODEGENERATIVE DISORDERS IN CHILDHOOD MODERATOR-DR.MONICA LAZARUS PRESENTED BY-DR.NAVEEN
- 2. • 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
- 3. APPROACH TO A CHILD SUSPECTED TO HAVE NDD History Till what age the child was normal Type of onset Coarse of illness Developmental status before onset of symptoms Cognition,seizures,behavioural disturbances, speech,language (grey matter ) Tone changes,ataxia,gait difficulties (white matter ) Visual/hearing problems
- 4. Physical examination Head circumference- Macrocephaly • Alexander disease • Canavan disease • GM1 gangliosidosis • Tay-Sachs disease • MPS Microcephaly- • Neuronal ceroid lepofuscinises • Krabbe s disease
- 5. FACIES • Coarse facies in MPS,GM1 gangliosidosis • Cherubic facies in menkes disease • Doll like in sandhoff disease
- 7. Hair- Alopecia,texture,pigmentary changes Wooly hair in menke’s
- 8. • Persistant large mongolian spot • GM1 Gangliosidosis • Hunter disease • Hurler disease • Mannosidosis • Nieman Pick • Hyperpigmentation • Adrenoleukodystrophy Skin
- 9. • Angiokeratomas • Fabry s • Fucosidosis • Sialidosis ll • Mucolipidosis l
- 10. Eye • Cataract- • Galactosemia • Wilson’s disease • Zellweger’s • Cherry red spot- • GM1 gangliosidosis • Tay-Sachs • Sandhoff’s • Niemann-Pick • Optic atrophy- • MLD • NCL • Krabbe • Canvan
- 11. Ear Hyperacusis/exaggerated startle- • Tay-Sachs • Krabbe Hearing loss- • MPS • ALD(cortical)
- 12. Short stature- • MPS • Lesch-Nyhan syndrome Hernia- • MPS • GM1-gangliosidosis
- 13. Hepatosplenomegaly • MPS • GM1 gangliosidosis • Niemann-Pick • Gaucher Cardiac dysfunction • Valve abnormalities in MPS • Conduction abnormalties in Kearns Sayre Syndrome
- 14. • Adrenoleukodystrophy and adrenomyeloneuropathy • Canavan disease • Gaucher’s disease type III • GM1 gangliosidosis (late infantile form) • Hallervorden-Spatz disease • Juvenile GM2 gangliosidosis • Menkes syndrome (kinky hair syndrome) • Metachromatic leukodystrophy • Niemann-Pick disease type C Degenerative Diseases with Spasticity and Pyramidal Signs
- 15. • Ataxia telangiectasia • Cockayne’s syndrome • Hallervorden-Spatz disease • Juvenile GM2 gangliosidosis • Juvenile Huntington’s disease • Lesch-Nyhan syndrome • Wilson’s disease Degenerative Diseases with Extrapyramidal Features
- 16. • Initial attainment of milestones and subsequent slowing of development • Regression of previously acquired milestones • Family history of similar disease • Movement disorder First step is to decide if it is a Neurodegenerative Disorder
- 17. Second step is to decide wheather degeneration has predominantly involved the grey matter or white matter
- 18. Grey matter White matter Dementia early Late Seizure Early and prominent late Psychological Symptoms May be present uncommon Disturbance of tone gait and reflexes Uncommon and late prominent Basal Ganglia present absent
- 19. 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
- 20. Screen for remendiable causes- • 1.Rule out hydrocephalus • 2.Rule out Hypothyriodism • 3.Rule out aminoacidoaminopathy or organic aciduria
- 21. Ref:- Current m/m of child neurology Bernard L. Maria
- 22. Ref:- Current m/m of neurology Bernard L. Maria
- 23. 30/12/10 23 Abnormalitie s outside CNS Chronic encephalopathy yes no Signs of white matter disease •Homocystinu ria •Menkes •Fucosidosis •Galactosidodi d Mitochondr ial myopathies Muscle GM1 Sialidosis II Gaucher’s Niemann pick’s MPS-I, II, III, IV Zellweger HSM •Skin •connectiv e tissue Signs of grey matter disease •NCL •GM2 •Biotinidase def •Leigh’s disease •Alpers disease •MLD •Krabbe •ALD •GM2 •GM1 •Organic acidurias •Aminoaciduria s •Canavan
- 26. Age at onset Condition Comments (years)
- 28. Investigations • Complete Blood picture-pancytopenia, vacuolated lymphocytes, acanthocytes • ABGs-metabolic acidosis(organic acidopathies, urea cycle defects, mitochondrial encephalopathies) • Electrolytes for adrenal insufficiency(adrenoleukodystrophy) • Ammonia level,LFTs,RFTs
- 29. • 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) Investigation
- 30. 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 for SSPE
- 31. • White matter disease Aryl sulfates assay –MLD VLCFA for Adrenoleukodystrophy N Acetyl aspartic acid – canavan s disease Galactocereamidase – Krabbe’s Nerve conduction studies
- 32. Role of MRI/MRI changes 1.Lysosomal storage disorders GM1 gangliosidosis-T1 bright thalami GM2 gangliosidosis-hyperintensities in caudate thalami,small cerebellum & brainstem Gaucher disease-normal/cerebral atrophy 2.NCL-cerebral and cerebellar atrophy 3.Wilson disease-Hyperintensities b/l symmetrical in caudate & putamen on T2 weighted images Axial T2 MR at midbrain level can show a face of giant panda sign 4.Menkes-cerebral & cerebellar atrophy subdural hematoma white matter hyperintensities tortuous intracranial vessels
- 33. Management • Directed towards the treatment of the underlying disorder, other associated features and complications • Supportive - feeding difficulties, Gastoresophageal reflux spasticity, drooling skeletal deformities, and recurrent chest infections epilepsy, sleep disorder, behavioral symptoms
- 34. Specific treatment 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
- 35. Neurodegenerative disorders Specific treatment modality 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
- 36. Thank you
Editor's Notes
- macrocephaly, flat occiput, flat face, high forehead with large fontanelles., hyper-telorism, epicanthal folds, upward slanting of palpebral fissures, nystagmus, posteriorly rotated ears with abnormal helices, anteverted nares, protruding tongue, high arched palate, and redundant skin folds of neck.