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Microcephaly & Macrocephaly
This document discusses disorders of head and teeth growth. It provides details on measuring head circumference and normal growth rates. Microcephaly is defined as a head circumference more than 3 standard deviations below the mean. Causes of primary microcephaly include familial, genetic diseases, structural brain abnormalities, and craniosynostosis. Secondary microcephaly results from insults affecting brain growth and has causes such as maternal infections/diseases, perinatal brain injuries, and postnatal illnesses. Macrocephaly is a head circumference over 2 standard deviations above the mean and can be caused by abnormalities of the cranial vault, brain, CSF, or space occupying lesions. Craniosynostosis is premature fusion of cranial sut
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An introduction to head circumference measurement and its importance in assessing growth.
Definition and causes of microcephaly, with incidences noted.Exploration of primary causes including familial, genetic, structural brain diseases, and craniosynostosis.
Discussion of secondary causes including maternal factors, perinatal brain injury, and acquired conditions.
Clinical features, investigations, and treatment approaches for microcephaly.
Definition and classification of macrocephaly, benchmarking head circumference beyond 2 SD.
Procedures for neuroimaging and metabolic screenings to assess macrocephaly.
Anatomical basics of fontanelles and sutures, alongside clinical implications of craniosynostosis.
Associated syndromes with craniosynostosis such as Crouzon and Apert syndromes.
Treatment approaches including helmet therapy and surgical options.
Overview of primary and permanent teeth development along with common dental anomalies.
Acknowledgement and conclusion of the presentation.
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Microcephaly & Macrocephaly
- 1. DISORDERS OF HEAD& TEETH GROWTH Dr Kaushik Barot Assistant Professor, Pediatrics
- 2. HEAD CIRCUMFERENCE • Headcircumference(occipitofrontal circumference ‐ OFC) • To record the greatest volume of cranium.
- 3. MEASUREMENT OF OFC •Measured by CROSS TAPE method (over lapping tape over temporal bone). • A non-stretchable tapes is placed over the nasion anteriorly and most prominent portion of occiput posteriorly • Measure across most prominent points of superior orbital ridge (anterior) and external occipital protuberance (posterior) Should not be measured within 24 hrs. after birth to avoid spurious values due to molding
- 4.
- 5. HEAD CIRCUMFERENCE (HC) AgeRate of increment Birth-3m 2cm/m 4m-6m 1cm/m 7m-12m 0.5cm/m 1-3 years 1cm/6month 3-5 years 1 cm/year Birth 33-35 cm 1 year 45-47 cm By 10-12 y-52 cm DINES FORMULA up to 1 year Head circumference= (length)/2 +9.5 )+/-2.5 5
- 6. HEAD CIRCUMFERENCE • Headcircumference can be plotted on growth charts • Serial measurements are more meaningful • Head circumference of parents and siblings should be recorded
- 9. EXAMINATION‐CONTD • Head size •Abnormal head shape • Fontanels • Sutures • Stigmata of intrauterine infections • Dysmorphism • Detailed CNS examination
- 10. MICROCEPHALY • HC <-3 SD for the given age and gender. OR • HC more then 3 SD below the median. • Incidence 2-3/30000 live births • Primary vs Secondary causes.
- 11. CAUSES OF PRIMARY MICROCEPHALY • Headwhich never grew normally. • Reduced neurons during neuronal development and migration. 1) Familial 2) Genetic diseases 3) Structural diseases of the brain 4) Craniosynostosis
- 12. 1) FAMILIAL MICROCEPHALY 1)Autosomal recessive (Microcephaly vera) Severe microcephaly (<- 4SD) Mental retardation Seizures may be present 2) Autosomal dominant • Mild microcephaly • Mild Mental retardation 3) X-linked recessive Mild- moderate microcephaly Mental retardation Short stature
- 13. 2) GENETIC DISEASES >500syndromes! • Trisomy 13(Patau syndrome) • Trisomy 18(Edward syndrome) • Trisomy 21(Downs syndrome) • Cornelia de Lange syndrome • Cri-du-chat syndrome • Smith Lemli Opitz syndrome • Rubinstein Taybi syndrome • William syndrome • Seckel syndrome • Cockayne syndrome • Monosomy 1p36 deletion • Wolf-Hirschhorn syndrome
- 14.
- 15. Synophrys---Fused eyebrows , eyebrowsmeet in middle above the bridge of the nose Hand anomalies MR
- 16. • Antimongoloid slant • Catlike cry • Microcephaly • MR • FTT
- 17. 3) STRUCTURAL DISEASEOF THE BRAIN • Neural tube defects like anencephaly, hydrancephaly , holoprosencephaly. • Neuronal migration disorders like lissencephaly,schizencephaly,polymicrogyria,pachygyria. • Others like corpus callosum agenesis.
- 18.
- 19. 4) CRANIOSYNOSTOSIS • Prematurefusion of one or more sutures
- 20. CAUSES OF PRIMARY MICROCEPHALY • Headwhich never grew normally. • Reduced neurons during neuronal development and migration. 1) Familial 2) Genetic diseases 3) Structural diseases of the brain 4) Craniosynostosis
- 21. SECONDARY CAUSES OFMICROCEPHALY ▪ A head which grew normally at the time of formation but stopped growing after initial normal structural formation. ▪ Results from insult that affect in‐utero or an infant during periods of rapid brain growth especially during 1st year of life.
- 22. SECONDARY CAUSES OFMICROCEPHALY 1) Maternal causes 2) Perinatal brain injury 3) Postnatal systemic diseases 4) Acquired microcephaly (syndromic)
- 23. SECONDARY CAUSES OFMICROCEPHALY 1) MATERNAL CAUSES • Infections • Diseases-PKU,DM • Drugs-Phenytoin (hydantoin),Antineoplastic, • Addictions • Radiation >20 rads • Heavy metals-Arsenic, Mercury • Toxic chemicals like Toluene 2) PERINATAL BRAIN INJURY • Hypoxic ischemic encephalopathy • CNS infection sequelae • Hypoglycemia • Vascular insults
- 24. SECONDARY CAUSES OFMICROCEPHALY Maternal causes-1) Infections VIRAL 1. Rubella 2. Cytomegalovirus 3. Herpes simplex virus 4. Zika 5. HIV 6. Varicella PARASITIC 1. Toxoplasma gondii (can lead to hydrocephalus also) BACTERIA 1. Syphilis 2. Campylobacter pylori
- 25. SECONDARY CAUSES OFMICROCEPHALY Maternal causes-2) ADDICTIONS 1) Alcohol-Fetal alcohol syndrome 2) Tobacco 3) Marijuana 4) Cocaine 5) Heroin
- 26. FETAL ALCOHOL SYNDROME ●Microcephaly ● Characteristics face:- short palpebral fissure, epicanthal folds, depressed nasal bridge, smooth philtrum, thin upper lip ● Developmental delay ● Slow growth ● Vision, Hearing problems ● CHD No RIDGE
- 27. WHAT ARE EPICANTHALFOLDS ? A skin fold of the upper eyelid that covers the inner canthus of the eye
- 28. SECONDARY CAUSES OFMICROCEPHALY 3) Post natal systemic disease • Chronic illness • Severe malnutrition • Encephalopathy associated with HIV • Severe seizure disorders • Endocrine causes like ❖ Hypothyroidism ❖ Hypoparathyroidism, ❖ Adrenal insufficiency • Inborn error of metabolism like ★ Phenylketonuria(PKU) ★ Methylmalonic aciduria ★ Citrullinemia ★ Neuronal ceroid lipofuscionosis 4) Acquired microcephaly (syndromic) • Rett Syndrome • Angelman Syndrome • Seckel Syndrome
- 29. MICROCEPHALY Clinical Features • Developmentaldelay • Small head with sloping forehead and flattened occiput • AF usually closed • Dysmorphology • May have vision and hearing deficit. • Seizures • Mental Retardation +- Investigations • Neuroimaging to identify etiology • Serum TSH • Genetic studies • Metabolic workup
- 30. TREATMENT • Treat thecause • Can’t make head big !! • Treat Craniosynostosis • Neurodevelopmental therapy • Treat associated seizures • Vision, hearing problems should be addressed.
- 31. FOR PRACTICALS ! PRIMARY 1)Familial (autosomal recessive,AD,X linked..) 2) Genetic diseases 3) Structural diseases of the brain 4) Craniosynostosis ▪ Familial ▪ Genetic disorders ▪ Structural disorders of the brain ▪ Craniosynostosis
- 32. MACROCEPHALY • Large Head •Head circumference > 2 SD for that age and gender
- 33. MACROCEPHALY 1) BENIGN FAMILIAL 2)ABNORMALITIES IN THE:- Cranial vault Brain parenchyma Ventricular system Vascular system Intracranial pressure 3) SPACE OCCUPYING LESIONS
- 34. MACROCEPHALY 2) ABNORMALITIES INCRANIAL VAULT • Rickets • Chronic hemolytic anemia e.g., Thalassemia major • Skeletal dysplasias -Achondroplasia -Osteogenesis imperfecta -Cleidocranial dysostosis - Pyknodysostosis • Osteopetrosis • Hypophosphatasia • Gigantism 1)BENIGN FAMILIAL MEGALENCEPHALY
- 35. MACROCEPHALY 4. Neurometabolic disorders A)Lysosomal disorders GM1 gangliosidosis Tay Sachs disease MPS B) Amino acid disorders Maple syrup urine disease Glutaric Aciduria (type1) 3)ABNORMALITIES IN THE BRAIN PARENCHYMA (Megalencephaly) 1. Leukodystrophies 1) Adrenoleukodystrophy 2) Alexander’s disease 3) Canavan disease 4) Megalencephalic leukoencephalopathy 2. Achondroplasia 3. Neurocutaneous syndromes 1) Neurofibromatosis 2) Tuberous sclerosis 3) Sturge Webers syndrome 4) Kllppel-Trenaunay-Weber 5) Linear Sebaceous Nevus
- 36. MACROCEPHALY 4) ABNORMAL CSFVOLUME Hydrocephalus Benign enlargement of subarachnoid space Hydrancephaly 5) ENLARGED VASCULAR COMPARTMENT Arteriovenous malformation Subdural, epidural, subarachnoid or intraventricular hemorrhage Subdural empyema or effusion in meningitis 6) INTRACRANIAL MASS LESIONS Cysts Abscess Tumor Pseudotumor cerebri Lead poisoning Galactosemia Hypervitaminosis A 7) RAISED ICT
- 37. INVESTIGATIONS Neuroimaging Metabolic screening Genetic analysis Ricketsworkup Thyroid function tests
- 38. MANAGEMENT Hydrocephalus • VP shunting •Neurosurgery for obstruction • Acetazolamide • Anticonvulsants • Neurodevelopmental therapy • Treat the etiology • Vitamin D for rickets • Regular blood transfusions for thalassemia major • Thyroid replacement therapy for hypothyroidism
- 39. FOR PRACTICALS ! Macrocephaly, HC>2 SD • Familial • Hydrocephalus • Rickets • Thalassemia major • Achondroplasia • Fragile X syndrome • Mucopolysaccharidosis • Cerebral gigantism
- 40. BASICS • Fontanelles (total6):- Anterior, Posterior---1 each Sphenoid Fontanel----2 each Mastoid Fontanel-----2 each ▪ Sutures 17 named sutures Major:-Coronal/Sagittal/Metopic/Lambdoid Minor:-Frontonasal, temporo squamosal, and frontosphenoidal Third fontanelle b/w AF & PF seen in Downs Syndrome and congenital Rubella syndrome.
- 41. BASICS • Only AF& PF are palpable at birth. • AF- rhomboid 2.5x2.5 cm close by 9-18 months at junction of coronal and sagittal sutures • PF- triangular, < 1 cm, closed at birth or by 6-8 weeks at junction of sagittal and lambdoid sutures.
- 42. AF-EXAMINATION • Always examinewhen baby is not crying in upright position. • Normally at level or slightly depressed and slightly pulsatile. • Take measurements.
- 43. BULGING FONTANEL 1) Cryingbaby 2) Hydrocephalus 3) Raised ICT e.g. in meningitis , IVH 4) Benign intracranial hypertension SHRUNKEN FONTANEL 1) Dehydration
- 44. LARGE FONTANEL 1) Prematurity 2)Rickets 3) Hydrocephalus 4) Malnutrition 5) Hypothyroidism 6) Skeletal dysplasias -Achondroplasia -Osteogenesis imperfecta -Cleidocranial dysostosis - Pyknodysostosis 7) Trisomy 13,18,21 8) Congenital rubella syndrome SMALL FONTANEL 1) Craniosynostosis 2) Variation of normal
- 45. FRONTAL BOSSING • Rickets •Hydrocephalus • Thalassemia Major • Achondroplasia • Congenital syphilis
- 46. CRANIOSYNOSTOSIS • Premature fusionof one or more cranial sutures. • Normally sutures fuse b/w 2 months (metopic suture) , 68- 72 months (frontonasal and frontozygomatic). • Premature fusion restricts the growth of the skull perpendicular to the affected suture. • Compensatory skull growth occurs parallel to the affected suture in order to accommodate the growing brain.
- 47. TYPES BY FUSIONOF VARIOUS SUTURES 1) Sagittal suture fusion-------------- Dolichocephaly (Scaphocephaly) 2) Bilateral Coronal suture fusion--- Brachycephaly 3) Unilateral Coronal suture fusion—Frontal Plagiocephaly 4) Unilateral Lambdoid suture fusion—Occipital Plagiocephaly 5) Metopic suture fusion----------------Trigonocephaly (Oxycephaly) 6) Fusion of multiple sutures----------Turricephaly
- 48. WHAT HAPPENS WHENSAGGITAL SUTURE IS FUSED ? DOLICOCEPHALY
- 49. DOLICOCEPHALY (Scaphocephaly) • Dolico=Narrowand long • Scapho=Boat • Longer head then expected • Premature fusion of sagittal suture. • Most common cause of craniosynostosis.
- 50. WHAT HAPPENS WHENBOTH CORONAL SUTURE ARE FUSED ? BRACHYCEPHALY
- 51. BRACHYCEPHALY • Brachy meansshort • Bilateral coronal suture fusion • Broad head and recessed forehead
- 52. WHAT HAPPENS WHENONE CORONAL SUTURE IS FUSED ? FRONTAL PLAGIOCEPHALY
- 53. WHAT HAPPENS WHENONE LAMBDOID SUTURE IS FUSED ? OCCIPITAL PLAGIOCEPHALY
- 54. PLAGIOCEPHALY • Plagio meansoblique • a/k/a Flat head syndrome • Frontal plagiocephaly-unilateral coronal suture fusion • Occipital plagiocephaly- unilateral lambdoid suture fusion
- 55. WHAT HAPPENS WHENMETOPIC SUTURE IS FUSED ? TRIGONOCEPHALY
- 56. TRIGONOCEPHALY • Tigonon meanstriangle • Premature fusion of metopic suture.
- 57. TURRICEPHALY OR OXYCEPHALY •Turri means tower • Premature fusion of coronal, spheno-frontal,fronto-ethmoid sutures.
- 59. KLEEBLATTSCHÄDEL SYNDROME (CLOVERLEAFSYNDROME) • Very rare • Intrauterine premature closure of the sagittal, coronal, lambdoid sutures
- 60. CRANIOSYNOSTOSIS SYNDROMES 1. Crouzonsyndrome (Bicoronal suture) 2. Apert syndrome (Bicoronal suture) 3. Carpenter syndrome (Multiple sutures) 4 . Saethre-Chotzen syndrome (Multiple sutures) 5 . Pfeiffer syndrome (Multiple sutures)
- 61. SYNDROMES ASSOCIATED WITHCRANIOSYNOSTOSIS CROUZONS SYNDROME • Autosomal dominant ,mutations in FGFR2 or FGFR3 • Bicoronal synostosis • Proptosis, beaked nose and midface hypoplasia. • Many have cervical spine abnormalities. • Normal intelligence, normal hands • 30 % develop hydrocephalus
- 62. SYNDROMES ASSOCIATED WITHCRANIOSYNOSTOSIS APERTS SYNDROME • Autosomal dominant ,Fibroblast growth factor gene defect • Bicoronal synostosis • Crouzon's with hand involvement! • Complex syndactyly (Mitten hand) • High arched palate, cleft palate • Maxillary hypoplasia • Hypertelorism, Antimongoloid slant • Intellectual disability • Severe acne vulgaris • Strabismus, conductive hearing loss
- 63. TREATMENT • Helmet therapy •Endoscopic craniosynostosis surgery
- 64. POSTNATAL GROWTH –DENTITION •PRIMARY (MILK or Deciduous) TEETH •20 in number •Incisor 2/2 •Canine1/1 •Premolars 0/0 •Molars 2/2 •2/1/0/2 •PERMANENT TEETH •32 in number •Incisor 2/2 •Canine1/1 •Premolars 2/2 •Molars 3/3 •2/1/2/3 64
- 65. POSTNATAL GROWTH –DENTITION •PRIMARY (MILK or Deciduous) TEETH •Milky white •Smaller •Softer •Thin enamel •20 teeth • 1st erupt at 6-7 months •Lower central incisor -1st to erupt •Last erupt at 2.5-3 years •PERMANENT TEETH •32 teeth •1st erupt at 6 years •1st molar •Last erupt at 18 years 65
- 66. WHEN SHOULD ACHILD START BRUSHING TEETH? • 2-3 years • Soft brush • Toothpaste only of rice grain size
- 67. DELAYED DENTITION No tootherupted till 13 months of age ! • Familial • Malnutrition • Rickets • Downs syndrome • Hypothyroidism • Hypoparathyroidism • Hypopituitarism • Cleidocranial dysostosis
- 68. CLEIDOCRANIAL DYSOSTOSIS Autosomal dominant Claviclesabsent completely or partially Wide open AF Supernumerary teeth Vertebral anomalies
- 69. DISCOLOURED TEETH • Poororal hygiene • Dental caries • Fluorosis • Porphyria • Drug induced ❑ Tetracycline ❑ Iron therapy • Addictions in late adolescents
- 70. HUTCHISONS TEETH • Seenin congenital syphilis • Notched incisors • Hutchison's triad 1) Hutchison's teeth 2) Interstitial keratitis 3) SNHL
- 71. NATAL TEETH • Normalvariant (1:2000 or 3000) • Pierre Robin syndrome • Ellis van Creveld syndrome • Soto’s syndrome • Epidermolysis bullosa • Hallermann-Streiff syndrome • Jadassohn-Lewandowski syndrome
- 72. SUPERNUMARY TEETHS • Gardner'ssyndrome • Cleidocranial dysostosis • Associated with cleft lip and palate • Fabry disease • Ellis-van Creveld syndrome • Rubinstein-Taybi Syndrome • Sotos syndrome
- 73.