an approach to a child with microcephaly

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very nice presentation . gives a clear picture of microcephaly

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hello I am fahime.master student of genetic.can Ihave this ppt?

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An approach to a child with microcephaly : 

An approach to a child with microcephaly Dr.Anita Lamichhane MD Resident (paediatrics) Shaikh Zayed Hospital Lahore

Microcephaly : 

Microcephaly A child whose head circumference is more than three standard deviations below the mean for age and sex

Slide 3: 

Normal head circumference at birth Male: 35cm(mean) range = 32---37 cm Female: 34cm(mean) Rate of growth of head circumference 2cm/month 1st three months of life 1cm/month 4-6 months of age 0.5cm/month 6-12 months of age 47cm at 1 yr of age 49 cm at 2 yrs of age

Slide 6: 

HC reflects brain volume, a small skull reflects a small brain. Incidence of moderate to severe mental retardation HC from 2-3 SD below the age is 33%. HC > 3 SD, incidence is 62% Not always associated with mental retardation

types of microcephaly : 

types of microcephaly Primary microcephaly (genetic) primary defect in brain development prenatal onset postnatal onset Secondary microcephaly (non genetic /acquired) prenatal onset postnatal onset

Causes of microcephaly : 

Causes of microcephaly

Primary microcephaly ( genetic) : 

Primary microcephaly ( genetic) Prenatal onset chromosomal anomalies Down syndrome (21 trisomy) Edward syndrome (18 trisomy Patau syndrome (13 trisomy ) malformations Holoprosencephaly Lissencephaly

Contd. : 

Contd. malformation syndrome de Lange syndrome hereditary conditions Autosomal recessive ( familial) Autosomal dominant

Slide 11: 

Post natal onset malformation Syndromes Aicardi syndrome Angel man syndrome Fanconi syndrome Rubinstein Taybi syndrome

Contd… : 

Contd… Prader-willi syndrome Beckwith wiedemann syndrome Bloom syndrome Cri-du-chat ( 5P )

Secondary microcephaly (nongenetic /acquired) : 

Secondary microcephaly (nongenetic /acquired) Prenatal onset Intrauterine TORCH infection Fetal alcohol syndrome Maternal phenylketonuria

Contd… : 

Contd… Post natal onset perinatal asphyxia with resultant HIE perinatally acquired herpes simplex encephalitis/meningitis head injury endocrine anomalies hypothyroidism hypopitutarism inherited metabolic disease such as PKU

Slide 15: 

Congenital CNS anomalies Agenesis of the cerebellar vermis Agenesis of the corpus callosum Encephalocele Macrogyria Porencephaly Schizencephaly

Others….. : 

Others….. Hyperthermia Radiation Malnutrition Drugs Fetal hydantoin syndrome

pathogenesis : 

pathogenesis Occurs as a result of Small brain & poorly growing skull An abnormal neuronal migration during fetal development. Cytoarchitectural derangements. heterotopias of neuronal cells.

Microcephaly Vera : 

Microcephaly Vera an Autosomal recessive disorder severe hypoplasia of the frontal regions of the brain and skull. severe mental retardation. Note: HC alone should never be used to establish a prognosis for intellectual development.

Aicardi Syndrome : 

Aicardi Syndrome females only agenesis of the corpus callosum infantile Spasms Severe mental & development retardation seizures gray matter heterotopias.

Bloom Syndrome : 

Bloom Syndrome Autosomal recessive Microcephaly short stature DNA fragility a butterfly shaped facial rash. prone to develop Cancer. Genetic diagnosis is available.

Down's Syndrome : 

Down's Syndrome Trisomy 21 Microcephaly. up slanting Fissures, epicanthal Folds, flat facial profile, small low set ears and incurving of the fifth finger. a single palmar crease ( simian crease) hypotonia

A child with Down Syndrome : 

A child with Down Syndrome

Edward syndrome : 

Edward syndrome Trisomy 18 Microcephaly Prominent occiput Micrognathia Narrow forehead Cleft lip and palate Low set ears ASD & VSD

Cri-Du-Chat Syndrome : 

Cri-Du-Chat Syndrome Microcephaly shrill cat like cry High arch palate small chin

Rubinstein taybi syndrome : 

Rubinstein taybi syndrome Mental & growth retardation Broad thumbs with talpism Microcephaly with mandibular & maxillary hypoplasia anteverted nose & antemongoloid slant to palpebral fissures

Cornelia de Lange syndrome : 

Cornelia de Lange syndrome Mental & growth retardation Synophrys Micrognathia ASD & VSD

Patau syndrome : 

Patau syndrome Trisomy 13 Microcephaly Cutis aplasia ( scalp defect ) Eyes cataract Colobomata Microphthalmia corneal opacities Hands polydactyly

Phenylketonuria : 

Phenylketonuria Deficiency of phenylalanine hydroxylase in the liver Accumulation of phenylalanine in the blood Toxic to brain Causes microcephaly mental retardation cerebral palsy eczema mousy odor of urine

Contd… : 

Contd… Diagnosed by increased serum phenylalanine in Blood Guthrie test ( 5th– 15th day of life) Treatment A diet low in phenylalanine

Slide 30: 

How to approach a child with microcephaly

History : 

History Family history (for genetic cause) Exposure of radiation during pregnancy Maternal drug history Infection during pregnancy Maternal DM or PKU

Contd.. : 

Contd.. Difficult delivery: forceps delivery, meconium stained liquor cord around the neck and low Apgar Scores all raises the possibility of hypoxic ischemic encephalopathy Significant fever during neonatal period

Slide 33: 

h/o high-pitched cry poor feeding seizures increased movement of the arms and legs (spasticity)

Examination : 

Examination Introduction of oneself to the parents Size of the parents & other siblings head circumference Note the child’s alertness Look for any Dysmorphic feature ( intrauterine TORCH, de Lange, Rubinstein Taybi)

Slide 35: 

Child’s posture & symmetry of the movements ( voluntary & involuntary ) Inspect the skin for neurocutaneous stigmata Head circumference Height & weight & plot in the centile chart

Slide 36: 

Note the child’s overall growth generally small only head small examine the head for any scar marks ( surgical repair of Craniosynostosis, closure of Encephalocele)

Contd.. : 

Contd.. Shape of the head flat occiput of Autosomal recessive microcephaly Palpate the head for ridging along the suture line & any deformity of skull contour (Craniosynostosis) or bony defects ( repaired Encephalocele)

Slide 39: 

Anterior fontanelle a large AF occurs in trisomies congenital rubella hypothyroidism Petechiae or skin rash

Slide 40: 

Eye micropthalmos (TORCH) lens for cataract (TORCH, trisomies ) fundus for chorioretinitis (TORCH) glaucoma ( congenital rubella ) red reflex ( rubella)

Slide 41: 

hypotelorism (Holoprosencephaly) upward slant ( down syndrome) epicanthi fold ( trisomies ) squint ( TORCH) pupils for anisocoria ( cong. Varicella )

Slide 42: 

Ears for hearing impairment ( TORCH ) neck for goiter hypothyroidism

Slide 43: 

Systemic examination CVS for congenital heart defects ( congenital rubella,trisomies ) Abdomen hepatosplenomegaly (TORCH) Genitalia micropenis with hypopitutarism structure ( cryptorchidism) Joint contractures Asses the gross and fine motor development– 180 degree maneuver

Investigations : 

Investigations Serological tests for intrauterine TORCH infection Chromosomal analysis for Autosomal Trisomy syndrome Neonatal screening tests for PKU & congenital hypothyroidism

Slide 45: 

Urine test Metabolic screening to detect virus excretion with CMV CSF to detect intrauterine or perinatal TORCH infection

Slide 46: 

Skull x ray for cerebral calcification CMV --- periventricular Toxoplasmosis—diffuse to detect early closure of sutures

Slide 47: 

CT SCAN/ MRI for cerebral malformations evidence of perinatal asphyxia or intrauterine infection

Slide 48: 

Genetic studies are indicated in patients with Dysmorphic features

Microcephaly may be diagnosed before birth by prenatal ultrasound. Genetic counseling should be done

Management : 

Management No treatment for microcephaly Baby’s head cannot be returned to a normal size & shape Includes focusing on preventing or minimizing deformities & maximizing the child’s capabilities at home & in the community.

Contd.. : 

Contd.. According to the cause. Anticonvulsants Physiotherapy Hearing & speech therapy Dietary management for failure to thrive Genetic counseling

Slide 52: 

Thank You

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