logging in or signing up an approach to a child with microcephaly aeroplane123 Download Post to : URL : Related Presentations : Let's Connect Share Add to Flag Embed Email Send to Blogs and Networks Add to Channel Copy embed code: Embed: Flash iPad Dynamic Copy Does not support media & animations Automatically changes to Flash or non-Flash embed WordPress Embed Customize Embed URL: Copy Thumbnail: Copy The presentation is successfully added In Your Favorites. Views: 3224 Category: Education License: All Rights Reserved Like it (2) Dislike it (1) Added: October 11, 2010 This Presentation is Public Favorites: 3 Presentation Description No description available. Comments Posting comment... By: uvasanthi83 (33 month(s) ago) very nice presentation . gives a clear picture of microcephaly Saving..... Post Reply Close Saving..... Edit Comment Close By: pikala (35 month(s) ago) please post this presentation to my email : email@example.com thanks u. Saving..... Post Reply Close Saving..... Edit Comment Close By: fahimemousavi (41 month(s) ago) hello I am fahime.master student of genetic.can Ihave this ppt? Saving..... Post Reply Close Saving..... Edit Comment Close Premium member Presentation Transcript 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 You do not have the permission to view this presentation. In order to view it, please contact the author of the presentation.