Approach to microcephaly and macrocephaly Disorders of teeth

1. DISORDERS OF HEAD &
TEETH GROWTH
Dr Kaushik Barot
Assistant Professor, Pediatrics

2. HEAD CIRCUMFERENCE
• Head circumference(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. MEASUREMENT OF
OFC

5. HEAD CIRCUMFERENCE (HC)
Age Rate 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
• Head circumference 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
• Head which 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
>500 syndromes!
• 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. Cornelia de
Lange syndrome

15. Synophrys---Fused
eyebrows , eyebrows meet in
middle above the bridge of
the nose
Hand anomalies
MR

16. • Antimongoloid
slant
• Cat like cry
• Microcephaly
• MR
• FTT

17. 3) STRUCTURAL DISEASE OF THE BRAIN
• Neural tube defects like anencephaly, hydrancephaly ,
holoprosencephaly.
• Neuronal migration disorders like
lissencephaly,schizencephaly,polymicrogyria,pachygyria.
• Others like corpus callosum agenesis.

18. Anencephaly
HYDRANCEPHALY

19. 4) CRANIOSYNOSTOSIS
• Premature fusion of one or
more sutures

20. CAUSES OF
PRIMARY
MICROCEPHALY
• Head which 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 OF MICROCEPHALY
▪ 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 OF MICROCEPHALY
1) Maternal causes
2) Perinatal brain injury
3) Postnatal systemic diseases
4) Acquired microcephaly (syndromic)

23. SECONDARY CAUSES OF MICROCEPHALY
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 OF MICROCEPHALY
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 OF MICROCEPHALY
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 EPICANTHAL FOLDS ?
A skin fold of the upper eyelid
that covers the inner canthus of
the eye

28. SECONDARY CAUSES OF MICROCEPHALY
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
• Developmental delay
• 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 the cause
• 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 IN CRANIAL 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 CSF VOLUME
 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
Rickets workup
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 (total 6):-
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 examine when baby is
not crying in upright position.
• Normally at level or slightly
depressed and slightly
pulsatile.
• Take measurements.

43. BULGING FONTANEL
1) Crying baby
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 fusion of 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 FUSION OF 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 WHEN SAGGITAL SUTURE IS FUSED ?
DOLICOCEPHALY

49. DOLICOCEPHALY (Scaphocephaly)
• Dolico=Narrow and long
• Scapho=Boat
• Longer head then expected
• Premature fusion of sagittal
suture.
• Most common cause of
craniosynostosis.

50. WHAT HAPPENS WHEN BOTH CORONAL SUTURE ARE FUSED
?
BRACHYCEPHALY

51. BRACHYCEPHALY
• Brachy means short
• Bilateral coronal suture fusion
• Broad head and recessed
forehead

52. WHAT HAPPENS WHEN ONE CORONAL SUTURE IS FUSED ?
FRONTAL PLAGIOCEPHALY

53. WHAT HAPPENS WHEN ONE LAMBDOID SUTURE IS FUSED ?
OCCIPITAL
PLAGIOCEPHALY

54. PLAGIOCEPHALY
• Plagio means oblique
• a/k/a Flat head syndrome
• Frontal plagiocephaly-unilateral
coronal suture fusion
• Occipital plagiocephaly-
unilateral lambdoid suture
fusion

55. WHAT HAPPENS WHEN METOPIC SUTURE IS FUSED ?
TRIGONOCEPHALY

56. TRIGONOCEPHALY
• Tigonon means triangle
• Premature fusion of metopic
suture.

57. TURRICEPHALY OR OXYCEPHALY
• Turri means tower
• Premature fusion of coronal,
spheno-frontal,fronto-ethmoid
sutures.

59. KLEEBLATTSCHÄDEL SYNDROME (CLOVERLEAF SYNDROME)
• Very rare
• Intrauterine premature
closure of the sagittal,
coronal, lambdoid sutures

60. CRANIOSYNOSTOSIS SYNDROMES
1. Crouzon syndrome (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 WITH CRANIOSYNOSTOSIS
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 WITH CRANIOSYNOSTOSIS
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 A CHILD START BRUSHING TEETH?
• 2-3 years
• Soft brush
• Toothpaste only of rice
grain size

67. DELAYED DENTITION
No tooth erupted till 13 months of age !
• Familial
• Malnutrition
• Rickets
• Downs syndrome
• Hypothyroidism
• Hypoparathyroidism
• Hypopituitarism
• Cleidocranial dysostosis

68. CLEIDOCRANIAL DYSOSTOSIS
Autosomal dominant
Clavicles absent completely or partially
Wide open AF
Supernumerary teeth
Vertebral anomalies

69. DISCOLOURED TEETH
• Poor oral hygiene
• Dental caries
• Fluorosis
• Porphyria
• Drug induced
❑ Tetracycline
❑ Iron therapy
• Addictions in late adolescents

70. HUTCHISONS TEETH
• Seen in congenital syphilis
• Notched incisors
• Hutchison's triad
1) Hutchison's teeth
2) Interstitial keratitis
3) SNHL

71. NATAL TEETH
• Normal variant (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's syndrome
• Cleidocranial dysostosis
• Associated with cleft lip and
palate
• Fabry disease
• Ellis-van Creveld syndrome
• Rubinstein-Taybi Syndrome
• Sotos syndrome

73. THANKS A LOT !