Approach to Macro and             Microcephaly                                   Dr. Kalpana Malla                        ...
MACROCEPHALY• Head circumference ( occipito frontal ) > 2  standard deviation above the mean for age  and sex          MIC...
Take 50 centile as base line    1 SD = 1.25 CMMacrocephaly > 2 SD i.e.            2.5 cm  Microcephaly < 3 SD           i....
CAUSES OF LARGE HEAD• Familial• Congenital : Achondroplasia, Cranioskeletal  dysplasia, Hydrocephalus, Porencephaly.• Dege...
CAUSES OF LARGE HEAD• Metabolic : GM1 gangiosidosis,  mucopolysaccharidosis, hypoparathyroid.• Space occupying : tumors, h...
Head circumference• Normal head circumference growth velocity:•   Birth-35cm•   0-3 months : +2 cm/mon(41cm)•   3-6 months...
HYDROCEPHALUS• Pathological increase in ventricular  volume due to abnormal CSF  accumulation• Imbalance between CSF produ...
Physiology of CSF• CSF secreted @ 500ml/day                   @ 20 ml/hr• Total CSF volume in infant = 50 ml              ...
CSF DRAINAGECSF    Lateral Ventricles                            Interventricular                            Foramen of MO...
80 % Enters into                20 % EntersCISTERNAL SYSTEM               Subarachnoid                               Space...
Pathophysiology:1. Obstruction to flow2. Decreased absorbtion3. Increased production- rarely by choroid   plexus papilloma
CLASSIFICATION OF HYDROCEPHALUS•   Obstructive/ Non Communicating/ Internal:•   Obstruction is within ventricular system u...
OBSTRUCTIVE/ NON COMMUNICATING - causes• Aqueductal stenosis:    - 70% of congenital    - 2% are inherited, mostly seconda...
OBSTRUCTIVE/ NON COMMUNICATING/                  INTERNAL:•   Intra uterine infections•   Midline brain tumors - Cerebella...
•   Non Obstructive/ Communicating/    External:•   Obstruction is distal to 4th ventriclular outlet    - foramina in cist...
NON OBSTRUCTIVE/ COMMUNICATING – causes• Post infectious - Meningitis ( TB COMMONEST,  also pnemococcal), Intra uterine in...
CLASSIFICATION• Congenital :             • Acquired :Eg. IUI,                     Eg . TBM,    IVH                      me...
Clinical Features• 50% may be asymptomaticSymptoms• Vomiting, headache• Drowsiness• Failure to thrive, poor appetite• Shri...
Signs• Progressive increase in OFC (>1cm/wk )• Head shape abnormal, forehead is broad,  frontal bossing• Ant fontanel: wid...
Signs• Macrocephaly• Skin of skull –  shiny, tense, dilated veins• Transillumination test:• MacEwen Sign: percussion  of t...
Trans illumination of headWhen Translucency extends beyond 2 CM in frontal area and over1 CM in occipital area is abnormal...
MACEWEN’S SIGN    Aka. Crack pot sign    Elicited by percussion of       skull    Amplified sound can be    heard from S...
Eyes signs• Ocular signs: eyes deviated downward “sun  setting sign”- due to pressure of 3rd ventricle  supra pineal reces...
Signs• Pyramidal signs: spasticity, brisk tendon  reflexes, clonus, Babinski sign due to  compression & stretching of myel...
Pseudo bulbar palsy• Presents as difficulty in  feeding, sucking, drooling, aspiration• Due to -    - Disruption of B/L co...
Look for•   Multiple café au- lait spots – NF•   Cranial bruit – Vein of Galen malformation•   NTD – Arnold chiari•   DAND...
Investigation:• USG: when ant fontanelle is open. Assesses   ventricular size, detects IVH• Plain skull films- shows sign ...
Investigation:• CT: helps to identify the cause• MRI: better visualization of post fossa  pathologies• Opthalmological eva...
TREATMENT• Medical :aims to decrease ICP&CSF formation1.MANNITOL 20% - 5ML/KG stat followed by  2ml/kg 6th hourly for 2 da...
SURGICALVENTRICULO PERITONEAL SHUNT• SILASTIC one way low pressure valve shunt –  Upadhya shunt• Indications for surgery:...
EVALUATION OF SHUNT• Pump the reservoir by finger pressure• Normally shunt empties and refills on release• IF FAILS TO REF...
• SHUNT FAILURE CAN OCCUR DUE TO:Shunt infection, calcifications, malposition.• Shunt infection - mostly due to staph  epi...
Prognosis• “arrested hydrocephalus” - may undergo spontaneous arrest• Untreated : 50% mortality• These children are at an ...
Post Meningitis with enlarging head               CT, CSF EXAM, FUNDOSCOPY LOOK FOR CSF CELLS PROTEINS, INTRA CRANIAL PRES...
POST TBM HYDROCEPHALUSIN Acute Stage not indicated as high PROTEINS -GREATER SHUNT BLOCK also it responds well to ATT ANDS...
Follow up• 1,3,6 months then yearly.• Check – HC, neurological signs, Fundus, shunt  function, IQ testing.
Hydranencephaly• The cerebral hemispheres are replaced by a thin-  walled, fluid-filled cyst• The aqueduct is usually atre...
MICROCEPHALYIs defined as head circumference > 3  standard deviations below the mean for  age and sex
PRIMARY ( Genetic ) MICROCEPHALYRefers to group - associated with specific genetic syndromes.USUALLY have slanting foreh...
Causes for primary• Familial - AR• Autosomal dominant• Syndromes : Down, Cri du  chat, Edward, Cornelia de  Lange, Rubinst...
Secondary ( non genetic) Microcephaly• Results from noxious agents that may  affect a fetus in utero or an infant during  ...
Causes for secondary microcepahaly•   Radiation•   Congenital infections – rubella, CMV, toxo•   Drugs – fetal alcohol, fe...
Causes for secondary microcepahaly•   Metabolic – maternal diabetes•   Hypoxic ischemic encephalopathy•   Malnutrition•   ...
Microcephaly       Craniosynostosis• Shape of skull   • Shape of skull -  usually normal     abnormal• Suture line -    • ...
Evaluation of microcephaly• Familial microcephaly needs exclusion• Detail birth history• OFC of siblings and parents shoul...
Investigations• X ray skull -determine suture  patency, overriding, fusion and calcification• TORCH serology-• KARYOTYPE- ...
• CT Head- for evidence of HIE sequelae,  and intracranial calcifications• MRI- in cases of familial microcephaly  and sus...
Treatment and Prognosis• Usually supportive• Treat neurological & sensory deficits• Treat seizures• If MR present, special...
Thank youDownload more documents and slide shows on The Medical Post               [ www.themedicalpost.net ]
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Approach to Macro and Microcephaly

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  1. 1. Approach to Macro and Microcephaly Dr. Kalpana Malla MD Pediatrics Manipal Teaching HospitalDownload more documents and slide shows on The Medical Post [ www.themedicalpost.net ]
  2. 2. MACROCEPHALY• Head circumference ( occipito frontal ) > 2 standard deviation above the mean for age and sex MICROCEPHALYHead circumference > 3 standard deviationsbelow the mean for age and sex
  3. 3. Take 50 centile as base line 1 SD = 1.25 CMMacrocephaly > 2 SD i.e. 2.5 cm Microcephaly < 3 SD i.e 3.75 cm
  4. 4. CAUSES OF LARGE HEAD• Familial• Congenital : Achondroplasia, Cranioskeletal dysplasia, Hydrocephalus, Porencephaly.• Degenerative : white matter degeneration• Infectious : Hydrocephalus, sudural effusion/empyema
  5. 5. CAUSES OF LARGE HEAD• Metabolic : GM1 gangiosidosis, mucopolysaccharidosis, hypoparathyroid.• Space occupying : tumors, hematoma• Neurocutaneous defects : tuberous sclerosis, neurofibroma• Thickened Skull: Rickets, hemolytic anaemia, fibrous dysplasia of bone
  6. 6. Head circumference• Normal head circumference growth velocity:• Birth-35cm• 0-3 months : +2 cm/mon(41cm)• 3-6 months :+ 1 cm/mon(44cm)• 6-12 months :+ 0.5cm/mon• 1-3 year : 0.25 cm/ mon• 3-6 year : 1 cm/year
  7. 7. HYDROCEPHALUS• Pathological increase in ventricular volume due to abnormal CSF accumulation• Imbalance between CSF production and flow leading to ventricular enlargement
  8. 8. Physiology of CSF• CSF secreted @ 500ml/day @ 20 ml/hr• Total CSF volume in infant = 50 ml in adult = 150ml.• 80% CSF – produced from choroid plexus of lateral, 3rd and 4th ventricle.• 20% CSF – from cerebrum and spinal cord
  9. 9. CSF DRAINAGECSF Lateral Ventricles Interventricular Foramen of MONRO 3rd VENTRICLE AQUEDUCT OF SYLVIUS 4th VENTRICLE Paired Lateral MEDIAN FORAMEN OF LUSCHKA FORAMEN OF MAGENDIE
  10. 10. 80 % Enters into 20 % EntersCISTERNAL SYSTEM Subarachnoid Space OF SPINAL CORD Then flows into VENOUS SINUSES Due to increased HYDROSTATIC PRESSURE Through ARACHNOID VILLI AND GRANULATIONS
  11. 11. Pathophysiology:1. Obstruction to flow2. Decreased absorbtion3. Increased production- rarely by choroid plexus papilloma
  12. 12. CLASSIFICATION OF HYDROCEPHALUS• Obstructive/ Non Communicating/ Internal:• Obstruction is within ventricular system upto and including outlet foramina of 4th ventricle.• SAS is compressed - ventricles can’t communicate with subarachnoid space
  13. 13. OBSTRUCTIVE/ NON COMMUNICATING - causes• Aqueductal stenosis: - 70% of congenital - 2% are inherited, mostly secondary to IVH, meningitis.• Arnold chiari malformation esp. type 2• Dandy walker syndrome• Chromosomal anomalies
  14. 14. OBSTRUCTIVE/ NON COMMUNICATING/ INTERNAL:• Intra uterine infections• Midline brain tumors - Cerebellar tumors• Vein of Galen malformation• Posterior fossa subdural hematoma• Congenital septa or membrane block at outlet of 4th ventricle
  15. 15. • Non Obstructive/ Communicating/ External:• Obstruction is distal to 4th ventriclular outlet - foramina in cisterns, subarachnoid space or arachnoid villi• Patent ventricular system - SAS space is enlarged
  16. 16. NON OBSTRUCTIVE/ COMMUNICATING – causes• Post infectious - Meningitis ( TB COMMONEST, also pnemococcal), Intra uterine infections – toxoplasma, CMV,• Sub arachnoid hemorrhage• Meningeal leukemic infiltrates• Secondary to excessive CSF production-papilloma of choroid plexus• Mucopolysacchridosis, achondroplasia• Craniosynostosis
  17. 17. CLASSIFICATION• Congenital : • Acquired :Eg. IUI, Eg . TBM, IVH meningitis, AV-malformations Post. fossa tumor, Cong. tumors
  18. 18. Clinical Features• 50% may be asymptomaticSymptoms• Vomiting, headache• Drowsiness• Failure to thrive, poor appetite• Shrill cry, irritability, lethargy• Delayed motor milestones – mainly motor• Progressive enlargement of head• Abnormal shape of head – inverted triangle• Slow mental deterioration
  19. 19. Signs• Progressive increase in OFC (>1cm/wk )• Head shape abnormal, forehead is broad, frontal bossing• Ant fontanel: wide open and bulging, non pulsatile• Open squamo parietal suture
  20. 20. Signs• Macrocephaly• Skin of skull – shiny, tense, dilated veins• Transillumination test:• MacEwen Sign: percussion of the skull produces a “cracked pot” sound
  21. 21. Trans illumination of headWhen Translucency extends beyond 2 CM in frontal area and over1 CM in occipital area is abnormal and S/O – sub dural effusionHematoma, hydrocephalus , Hydranencephaly ENTIRE SKULL IS LIT UP - HYDRANENCEPHALY. SOME PART OF SKULL LIGHTED - HYDROCEPHALUS
  22. 22. MACEWEN’S SIGN Aka. Crack pot sign Elicited by percussion of skull Amplified sound can be heard from Steth from other end - Indicative of separated sutures due to raised intra cranial tension Physiologically present if AF is open
  23. 23. Eyes signs• Ocular signs: eyes deviated downward “sun setting sign”- due to pressure of 3rd ventricle supra pineal recess on mesencephalic tectum , causing impairment of upward gaze• Squint - 6th n. palsy• Nystagmus, ptosis, Optic atrophy• Chorioretinitis (I.U. infec)• Papilledema
  24. 24. Signs• Pyramidal signs: spasticity, brisk tendon reflexes, clonus, Babinski sign due to compression & stretching of myelienated para central corticospinal fibers arising from leg area of motor cortex• Others: mental retardation, gait anomaly, epilepsy
  25. 25. Pseudo bulbar palsy• Presents as difficulty in feeding, sucking, drooling, aspiration• Due to - - Disruption of B/L cortico bulbar fibers - Can be due to arnold chiari malformation
  26. 26. Look for• Multiple café au- lait spots – NF• Cranial bruit – Vein of Galen malformation• NTD – Arnold chiari• DANDY WALKER - prominent occiput
  27. 27. Investigation:• USG: when ant fontanelle is open. Assesses ventricular size, detects IVH• Plain skull films- shows sign of ICP: - separation of sutures - erosion of the post. Clinoid process - increased convolutional markings (beaten silver appearance) -Flat enlarged sella tursica
  28. 28. Investigation:• CT: helps to identify the cause• MRI: better visualization of post fossa pathologies• Opthalmological evaluation• Psychomotor assessment: using different dev scales
  29. 29. TREATMENT• Medical :aims to decrease ICP&CSF formation1.MANNITOL 20% - 5ML/KG stat followed by 2ml/kg 6th hourly for 2 days.2.ACETAZOLAMIDE 50-100mg/kg/day to reduce CSF production3.ORAL GLYCEROL4.FRUSEMIDE
  30. 30. SURGICALVENTRICULO PERITONEAL SHUNT• SILASTIC one way low pressure valve shunt – Upadhya shunt• Indications for surgery:Papilledema/ periventricular ooze on fundoscopy/CT.Cortical mantle < 2.5cm on initial neuroimagingProgressive thinning of mantle despite medical treatment.
  31. 31. EVALUATION OF SHUNT• Pump the reservoir by finger pressure• Normally shunt empties and refills on release• IF FAILS TO REFILL = Proximal block = Due to choroid plexus tissue• IF RESISTANCE TO EMPTYING= Distal block = Omental block
  32. 32. • SHUNT FAILURE CAN OCCUR DUE TO:Shunt infection, calcifications, malposition.• Shunt infection - mostly due to staph epidermis, staph aureus.
  33. 33. Prognosis• “arrested hydrocephalus” - may undergo spontaneous arrest• Untreated : 50% mortality• These children are at an increased risk of: – Dev. Disabilities with less IQ – Visual problems: visual field defects, strabismus, optic atrophy – Behavioral problems: – Accelerated pubertal dev- due to increased gonadotropin secretion in response to raised ICP
  34. 34. Post Meningitis with enlarging head CT, CSF EXAM, FUNDOSCOPY LOOK FOR CSF CELLS PROTEINS, INTRA CRANIAL PRESSURE PERIVENTRICULAR OOZE SignificantRAISED ICT Mild hydro, hydroc.LOW CELLS ICT NOT RAISED High cells Ooze +, highLOW PROTEIN High cells, proteins protein SHUNT MEDICAL Try to avoid Shunts. Treat External medically drainage
  35. 35. POST TBM HYDROCEPHALUSIN Acute Stage not indicated as high PROTEINS -GREATER SHUNT BLOCK also it responds well to ATT ANDSTEROIDS.INDICATION FOR SURGERY BEING – Persistentdecerebration no improvement in sensorium in 10days
  36. 36. Follow up• 1,3,6 months then yearly.• Check – HC, neurological signs, Fundus, shunt function, IQ testing.
  37. 37. Hydranencephaly• The cerebral hemispheres are replaced by a thin- walled, fluid-filled cyst• The aqueduct is usually atretic, and increased fluid pressure causes the cyst to enlarge• The empty cranial cavity transilluminates
  38. 38. MICROCEPHALYIs defined as head circumference > 3 standard deviations below the mean for age and sex
  39. 39. PRIMARY ( Genetic ) MICROCEPHALYRefers to group - associated with specific genetic syndromes.USUALLY have slanting forehead.Identified at birth itself
  40. 40. Causes for primary• Familial - AR• Autosomal dominant• Syndromes : Down, Cri du chat, Edward, Cornelia de Lange, Rubinstein Tyabi, Smith Lemli Opitz.
  41. 41. Secondary ( non genetic) Microcephaly• Results from noxious agents that may affect a fetus in utero or an infant during periods of rapid brain growth, particularly the first 2 years of life
  42. 42. Causes for secondary microcepahaly• Radiation• Congenital infections – rubella, CMV, toxo• Drugs – fetal alcohol, fetal hydantoin• Meningitis/encephalitis
  43. 43. Causes for secondary microcepahaly• Metabolic – maternal diabetes• Hypoxic ischemic encephalopathy• Malnutrition• Hyperthermia
  44. 44. Microcephaly Craniosynostosis• Shape of skull • Shape of skull - usually normal abnormal• Suture line - • Suture line – normal ridged.
  45. 45. Evaluation of microcephaly• Familial microcephaly needs exclusion• Detail birth history• OFC of siblings and parents should be recorded• Examine for associated dysmorphism Developmental assessment• Detailed neurological evaluation - seizures, spasticity
  46. 46. Investigations• X ray skull -determine suture patency, overriding, fusion and calcification• TORCH serology-• KARYOTYPE- if dysmorphism• Metabolic screening
  47. 47. • CT Head- for evidence of HIE sequelae, and intracranial calcifications• MRI- in cases of familial microcephaly and suspected migrational disorders
  48. 48. Treatment and Prognosis• Usually supportive• Treat neurological & sensory deficits• Treat seizures• If MR present, special schools may be needed• Genetic councelling
  49. 49. Thank youDownload more documents and slide shows on The Medical Post [ www.themedicalpost.net ]
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