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DEVELOPMENTAL MILESTONES
- 1. DEVELOPMENTAL MILESTONES DR. PRADEEP PATIL Prof.Department of Radio-diagnosis, DY Patil medical college, hospital & research institute Kolhapur
- 2. DEVELOPMENTAL REGRESSION • Delayedachievement of developmental milestones is one of the most common problems evaluated by child neurologists. – Is developmental delay restricted to specific areas, or is it global? – Is development delayed or regressing? • Loss of developmental milestones previously attained usually indicates a progressive disease of the nervous system.
- 3. • Rapidly assesses4 different components of development: • Personal- Social • Fine motor adaptive • Language and • Gross motor.
- 5. • A progressivedeterioration of neurological functions - loss of speech, vision, hearing or locomotion ,often associated with seizure, feeding and intellectual impairment. • Neuroregressive / Neurodegenerative Disorders - a group of heterogeneous diseases which results from specific genetic, biochemical defect, chronic viral infection and toxic substances. • May involves both the grey matter and white matter
- 7. White matter: • Containsmostly myelinated axons • connect various grey matter areas (the locations of nerve cell bodies) of the brain to each other, and carry nerve impulses between neuron • White matter controls the involuntary functions of the body such as blood pressure, heart rate, and body temperature. Grey matter: • Consists of neuronal cell bodies, dendrites and glial cells. • The grey matter includes regions of the brain involved in muscle control, sensory perception such as seeing and hearing, memory, emotions, and speech.
- 8. Grey matter DiseaseWhite matter Disease Processing center Represents networking between these centers Primarily involve neurons± histologic evidence of abnormal metabolic products--> neuronal death and secondary axon degeneration Myelin is disrupted either destruction of normal myelin or biochemically abnormal myelin production
- 9. APPROACH TO ACHILD WITH MILESTONE REGRESSION IMPORTANT CONSIDERATION • Regression AND NOT Delay • Age above 2 Years OR Less than 2 Years • Is only the Central nervous system involved, or are other organs involved? – Other organ involvement suggests lysosomal, peroxisomal, and mitochondrial disorders.
- 10. • Nerve ormuscle involvement suggests mainly lysosomal and mitochondrial disorders. • Does the disease affect primarily the grey matter or the white matter?
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- 13. ACQUIRED CAUSES • Infections Subacutesclerosing panencephalitis Progressive Rubella Syndrome Toxoplasma Chronic HIV infection • Metabolic Hypothyroidism Vit B-12 & E deficiency
- 14. INHERITED CAUSES • Greymatter involvement: Grey matter involvement with visceromegaly – GM1 Gangliosidosis – Sandholf disease – Niemann pick Disease – MPS – Gaucher disease • Grey matter diseases involvement without visceromegaly – Tay Sach disease – Rett Syndrome – Menke’s kinky hair disease
- 15. WHITE MATTER INVOLVEMENT •Leukodystrophies – Metachromatic leukodystrophy – Krabbe disease – Adrenoleukodystrophy – Alexander disease
- 16. OBJECTIVE OF EVALUATION •Confirmation of Developmental regression (history, clinical & neurological examination and biochemical test) • Categorization of domains involved • Identification of possible underlying etiology
- 17. ROLE OF MRI: • The abnormalities of metabolic disease are characteristically bilateral and symmetrical. • Assessment on MRI should include analysis of grey and white matter structures. • Calcification is much better assessed on ct. • Inherited hypomyelination.
- 18. Progression of myelination occursin: • Central to periphery • Caudal to cranial • Dorsal to ventral • Sensory then motor
- 19. Myelination milestones • Termat birth- brainstem, cerebellum, posterior limb of IC, perirolandic region • First changes- increase in T1 signal , later decreased signal on T2 • 2-3 months- anterior limb of IC T1 bright • 3 months- cerebellar WM T1 bright • 3-6 months- splenium of CC T2 dark • 6 months – genu of CC T1 bright • 8 months- subcortical WM T1 bright, genu of CC T2 dark • 1yr 2 months – occipital WM T2 dark • 1yr 4months – frontal WM T2 dark • 3yrs – almost entire WM becomes T2 dark
- 20. Basic principles ofmyelination on MRI: • Unmyelinated WM: Hypointense on T1 W Hyper intense on T2 W. • Myelinated WM : Hyper intense on T1 W Hypointense on T2 W. • Increase in signal intensity on T1W images precede the decrease in signal intensity on T2W images.
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- 23. White matter disorders Demyelination (destructionof normal myelin) Dysmyelination (formation of abnormal myelin) Hypomyelination (reduction of the amount of myelin)
- 24. Leukodystrophies with diffusewhite matter involvement • Canavan’s disease • Alexander Disease • Glutaric Aciduria Type 1 & 2
- 25. 2 year withcanavan disease Leukodystrophy Macrocephaly Diffuse WM involvement ↑↑ NAA levels
- 26. Leuko dystrophy Macrocephaly Predominant frontalWM involvement Frontal rim sign Contrast enhancement ↑ GFAP glial fibrillary acidic protein levels in CSF Alexander disease
- 27. 7 months childwith Glutaric Aciduria Type 1
- 28. Leuko dystrophies withsubcortical white matter involvement • Hydroxy glutaric aciduria • Kearns sayer syndrome
- 29. Leuko dystrophies withdeep white matter involvement • Metachromatic Leuko dystrophy • Krabbe’s Disease • Vanishing White Matter Disease • Peroxisomal disorders - Adreno leukodystrophy (ALD)
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- 32. Axial T2W showsdark regions of myelination in the posterior limb of internal capsule,splenium and genu of corpus callosum. The rest of the cerebral hemisphere are not myelinated(white matter is too bright).
- 33. 5 years ofage with learning and behavioural problems, a deteriorating gait - adrenoleucodystrophy
- 34.
Editor's Notes
- #7 progressive loss of previously acquired skills/milestones
- #17 Birth h/o- trem/ preterm, postnatal comp- infec, trauma, inc bilirubin levels- kernicterus Developmental h/o Family h/o – h/o consanguinity Physical examination- typical fascial features, systemic examination – organomegaly Neuro- speech, memory, gait, mental function
- #22 Term Posterior limb at term 5mon Anterior limb Frontal nd occipital WM Entire WM is well myelinated
- #23 Presence of small,bilaterally symmetrical foci of high signal occurring in the WM dorsolateral to the atria of the lateral ventricles When this is seen, it is important to differentiate normal terminal zones from pathological perivemtrcular leukomalacia or ischemia CLUES:
- #26 Sag T1Macrocephaly with striking craniofascial disproportion Moderate generalized volume loss is present in both cerebral hemisphers and cerebellum Axial T2 diffuse WM hyperintensity throught out the brain indicating complte absence of myelination Globus pallidus- hypeintense- shrunken and atrophic – almost completely disappeared MRS – markedly elevated NAA peak, cr is significantly reduced, myoinositol peak is present
- #27 Axial T1 – hypointense frontal WM, normally apeearing paritooccipital WM Hypointensity extents into external capsule Hyperintense rings arounfd the frontal horn Axial T1C SHOWS ENCHANCEMENT IN PERIVENTRICULAR RAEA AND BASAL GANGLIA
- #28 Axial T2 – enlarged hhyperintense caudate nucleus, putamen, globus opallidus with thalami sparing Sylvian fissure – enlarged Hemispheric WM myelination is grossly delayed DWI – restricted diff in basal ganglia, open sylvian fissure, sparing of thalamus.
- #29 Predominantly diffuse subcortical WM abnormalities, relative sparing of the periventricular white matter – kearns sayre syndrome
- #31 Axial T2 – butterfly pattern of symmetrical hyperintensityies around frontal horn and atria of lateral ventricles. Flair – hyperintense confluent demyelination Preserved myelin ( tiger pattern) sparing of U fibers. Fliar sag – dots leopard pattern of preserved myelin within deep WM demyelination
- #32 NECT – symmetrical hyperdensities in both thalami T2 hypo – symm thalami T2 – classic ring or halos of alternating hyper-hypointensities around dentate nucleus.
- #33 INHERITED HYPOMYELINATION
- #34 There is peritrigonal and splenial signal abnormality (increased SI on T2WI and low signal on T1WI) marginal enhancement at the leading edges where there is active inflammation, typical of adrenoleukodystrophy T2WI: high SI changes are seen within the posterocentral white matter