1 / 172

LMCC REVIEW: PEDIATRICS PART II AND DEVELOPMENT PEDIATRICS

LMCC REVIEW: PEDIATRICS PART II AND DEVELOPMENT PEDIATRICS. Asha Nair, MD, FRCPC Developmental Pediatrician CHEO/OCTC. GENETICS. General. Major anomalies in 3% of newborns Recurrence risk is 3-5% Includes: congenital heart disease spina bifida cleft lip/palate)

zuri
Download Presentation

LMCC REVIEW: PEDIATRICS PART II AND DEVELOPMENT PEDIATRICS

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. LMCC REVIEW:PEDIATRICS PART IIAND DEVELOPMENT PEDIATRICS Asha Nair, MD, FRCPC Developmental Pediatrician CHEO/OCTC

  2. GENETICS

  3. General • Major anomalies in 3% of newborns • Recurrence risk is 3-5% • Includes: • congenital heart disease • spina bifida • cleft lip/palate) • Minor anomalies in 15% • Includes toes/fingers

  4. GENETICS • Mechanisms of anomalies • Malformations: • defect of organ from abnormal developmental process • Deformation: • abnormal form, shape or position from mechanical forces • Disruption: • defect from extrinsic breakdown or interference with an original developmental process

  5. Dysmorphology • Patterns of malformation include syndrome, sequence and association • SYNDROME: a pattern of anomaly due to a single/specific cause ie Marfan, Down, FAS • SEQUENCE: an underlying anomaly giving rise to a cascade of secondary problems ie Pierre Robin • ASSOCIATION: non-random combination of anomalies that occur together more frequently than expected by chance ie VACTERL

  6. Teratogens • Drugs: • Thalidomide – phocomelia • DES - vaginal adenocarcinoma • Tetracycline - staining of teeth/bone • Retinoic acid - brain/ear/heart • Testosterone – virilization • Alcohol: FAS • Congenital infections (TORCH, varicella, parvovirus) • Metabolic conditions (maternal diabetes, PKU)

  7. Patterns of Inheritance • Autosomal dominant • Autosomal recessive • X-Linked recessive • Multifactorial

  8. Chromosomal Abnormalities • Aneuploidy/ Polyploidy: indicates an extra or missing chromosome • Trisomies or monosomies • Abnormalities of Chromosome structure • Deletions • Translocations • Inversions • Duplications • Sex Chromosome Anomalies

  9. Down Syndrome Inheritance • nondysjunction (Trisomy) ; 95% • translocation (14/21 or 21/21) = 4 % • mosaics = 1 %

  10. DOWN SYNDROME • Most common chromosomal abnormality • 1/600-1/800 live births (increases with increasing maternal age) • Features: • Flat occiput/brachycephaly, microcephaly • Epicanthal folds, upslanting palpebral features, Brushfield spots • Midface hypoplasia, small low set ears, protruding tongue • Clinodactyly, wide space between 1 and 2 toe, Simian Crease • Generalized hypotonia, intellectual disability

  11. DOWN SYNDROME: Associated Medical Issues CNS : • hypotonia, Intellectual disability Ophthalmologic: • cataracts, nasolacrimal duct obstruction, strabismus, refractive errors ENT: • acute and chronic serous OM and hearing loss, chronic sinusitis, tonsillar and adenoidal hypertrophy Respiratory: • OSA, chronic pneumonia CVS: • CHD in 50%

  12. DOWN SYNDROME: Associated Medical Issues • GI: • duodenal atresia (double bubble sign), GERD, Hirshsprungs, constipation, oro-motor issues leading to aspiration, FTT early on and obesity in older ages. • MSK: • joint laxity, atlantoaxial instability • ENDO: • hypothyroidism (20%), Type 1 diabetes, Coeliac disease • HEME: • increased risk of leukemia

  13. Turner’s Syndrome • Incidence 1/2500 • 45 XO (55%) • mosaicism (25%) • Clinical features Birth: • edema of dorsum of hands and feet • loose skin folds at nape of neck • short stature

  14. Turner’s Syndrome • Clinical features (very large variability) • Childhood: • low posterior hairline* • small mandible - prominent ears • epicanthal folds - high arched palate • broad chest* -cubitum valgus (incr. carrying angle)* • hyperconvex fingernails • pigmented nevi (  with advancing age)

  15. Turner’s Syndrome • Associated features • short stature* • delayed puberty* secondary to gonadal dysgenesis • CVS defects- (Coarct, bicuspid AoV)* • renal anomalies 50% • spatial perceptual difficulties • Increased risk • hearing loss - autoimmune thyroiditis • IBD - GI telangiectasia

  16. Klinefelter Syndrome – 47XXY

  17. Fragile X Syndrome • X-linked • Most common cause of ID in males • Caused by defect in FMR1 gene of X chromosome • Characteristic features (see diagram) • Also social difficulties and stereotypical movements (common etiology for secondary Autism) • Females show varying degrees of MR and have less characteristic features

  18. Williams Syndrome • 7q deletion • Round face with full cheeks & lips (elfin facies) • Blue eyes with stellate pattern in iris/strabismus • Calcium disturbances • Cardiac issues: most common is supra valvular aortic or pulmonary stenosis • Growth & developmental delays/varying degree of MR • Friendly/outgoing personality

  19. 22 q.11.2 Deletion Syndrome, DiGeorge or Velocardiofacial • Catch 22 Syndrome ( Cardiac, Abnormal facies, Thymic, Cleft palate, Hypocalcemia) • Chromosome 22 deletion syndrome • Hypoplasia or agenesis of thymus and parathyroid glands (immune and calcium regulation issues) • Velopharyngeal abnormalities (feeding and speech) • Hypoplasia of auricle and external auditory canal • Conotruncal cardiac anomalies • Behavioral difficulties and developmental delay

  20. Other Deletion Syndromes • Prader Willi (deletion in paternal chromosome 15) • Hypotonia at birth with FTT • Obesity and short stature (GH responsive) • Almond shaped eyes • Small hands/feet and hypogonadism • Mild mental retardation • Angelman (deletion in maternal chromosome 15) • “Happy Puppet” • Hypotonia • Fair hair, midface hypoplasia, prognathism • Jerky ataxic movements,seizures, uncontrollable bouts of laughter, and severe MR

  21. Noonans Syndrome • AD inheritence • Low set ears, down-slanting palpebral fissures, hypertelorism, webbed neck • Cardiac anomalies: pulmonary outflow tract (pulmonary valve stenosis) • Short stature, pectus, hypotonia, joint laxity • Feeding difficulties with excessive vomiting and FTT • Features may change with age and become easier to id

  22. Fetal Alcohol Syndrome • Alcohol exposure during pregnancy is known to have effects on developing fetus • Alcohol intake is leading known preventable cause of developmental disability • FASD affects 1% of Canadian live births • There is no cure and there is lifelong impact to individuals, families and society • Guidelines advise no safe amount or safe time to drink alcohol during pregnancy

  23. Fetal Alcohol Spectrum Disorder (FASD) • An umbrella term which includes: • Fetal Alcohol Syndrome (FAS) • Partial FAS (pFAS) • Alcohol Related Neurodevelopmental Disorder (ARND) • Fetal Alcohol Effects (FAE) • Alcohol Related Birth defects

  24. FETAL ALCOHOL SYNDROME • Diagnosis based on 4 domains: • Growth Deficiency; weight , height, head circ. • Characteristic Facial Features • Central Nervous System Damage • Structural • Neurological • Functional • Prenatal Alcohol Exposure

  25. FAS • Characteristics Facial Features Include: • short palpebral fissures • epicanthal folds • maxillary hypoplasia • micrognathia • thin upper lip

  26. Fetal Alcohol Syndrome: Other Associations • Cardiac defects especially septal defects • Limb and finger anomalies • Poor coordination • Learning difficulties • Intellectual deficiency varying from borderline severe • Attention, hyperactivity and impulsivity issues (legal problems) • Mental health issues: anxiety

  27. Marfan’s Syndrome • Autosomal dominant 1/20,000 • Manifestations • tall stature • extremities extremely long (especially distal bone) • spider fingers • arm span > height

  28. Marfan’s Syndrome • wrist sign • thumb and fifth finger overlap when clasped around the wrist • Steinberg thumb syndrome • thumb opposed across palm extends past ulnar border • thoracic cage deformity • pectus, pigeon chest • hyperextension joints with recurrent dislocation

  29. Marfan’s Syndrome • ectopia lentis • also retinal detachment, myopia, strabismus • CVS abnormalities • aortic root dilatation • MVP • Differential diagnosis • homocystinemia • MR associated

  30. VACTERL Vertebral defects Imperforate Anus Cardiac Tracheoesophageal fistula Radial and renal Limb anomalies VATER excludes cardiac and limb anomalies CHARGE Association Coloboma Heart disease Atresia of choanae Retarded growth Genital anomalies Ear anomalies Associations

  31. Neurocutaneous Syndromes-Neurofibromatosis • 50% AD • Skin lesions include: • café au lait spots • Axillary or inguinal freckling • neurofibromas • Other lesions include: • Optic gliomas • Iris hamartomas (Lisch nodules) • Osseous lesions ( spheniod dysplasia)

  32. Neurocutaneous Syndromes-Tuberous Sclerosis • 30% AD • Skin lesions include: • Ash leaf spots • shagreen patch • Adenoma sebacum • Café au lait • Periungal fibromas • Other associations include: • Infantile spasms • DD and MR • Calcified tubers in brain • Retinal lesions

  33. Neurocutaneous Syndromes • Sturge Weber (sporadic) • Skin lesions include: port wine stain inV1, cutaneous vascular malformations • Other findings include: sz, glaucoma, hemihypertrophy, intrecranial AVM/calcifications, MR • Ataxia Telangectasia (AR) • Skin findings include: conjunctival and cutaneous telangectasia, and café au lait spots • Other findings include: Ataxia , immunodeficiencies and malignancy • Incontinentia Pigmenti(XLR) • Skin lesions include: bullae as neonates, splashes or whorls of hyperpigmentation • Other findings include: sz, DD, MR, strabismus

  34. Febrile Seizures • Common: 4-5%( OM, Gastro,URTI, Roseola) • 6 months - 6 years • Simple or Atypical • Simple Febrile Seizure: • Generalized tonic-clonic seizure with no focality • Less than 15 minutes • Occurs once in 24 hour period • Must have absence of CNS infection/absence of CNS signs interictally

  35. Febrile Seizures • positive family history in 60-70% • 30 % will have recurrence (more common if + FH, 1st sz < 1yr) • risk of epilepsy is higher if atypical features, underlying CNS pathology or + FH epilepsy) • Treatment • antipyretic measures • acetaminophen • sponging with tepid water • anticonvulsant therapy in rare instances

  36. Breathholding Spells(Cyanotic) • 6 months - 4 years • Onset always with crying • Infant stops breathing and becomes deeply cyanotic • Limbs become rigidly extended • If prolonged, LOC occurs with occasional convulsive jerks • child becomes limp, resumes breathing • within seconds is fully alert

  37. Breathholding Spells • Prognosis • benign • disappears spontaneously by school age • these kids have increased risk of vasovagal syncope in childhood

  38. Pallid Attacks • Infantile syncope follows a sudden minor injury • Child starts to cry, turns pale, and LOC • Transient apnea and limpness  rapid recovery • 2o to vagal reflex overactivity  marked transient bradycardia and circulatory impairment • Benign • Disappears spontaneously by school age

  39. BEHAVIORAL PROBLEMS

More Related