Peds Exam 2 Flashcards
distance b/w adult maxillary inter-canines
2.5-3 cm
Orofacial injuries
common in child abuse, up to 50% abused children
Fractures of high suspicion
Rib fx <1 YO Long bone fx in non-walking Sternum/scapular or spinal fx Multiple fx in various stages of healing Depressed skull fx
Two most common child abuse fractures
Metaphyseal lesions of long bone
Rib fracture
Seeking care after UNINTENTIONAL head injury
Localized swelling
Lethargy
Concern for children who were asymptomatic
Seeking care after CHILD ABUSE head trauma
Breathing diff
Apnea
Seizure
Lifelessness
Epidural hemorrhage
Accident
Subdural hemorrhage
Abuse or past abuse
Requires more force
Subarachnoid hemorrhage
All types
Retinal hemorrhage
If abuse: usually see MANY hemorrhages
Skull trauma
Suspect abuse if: fracture is more complex and depressed
Salicylate (ASA) overdose
Diffuse bruising Tachypnea Hyperthermia Tachycardia Hypotension Vomiting *CHECK plasma salicylate
Mongolion spot
African american, Asian, Hispanic
Lower back/buttocks
Abscence of swelling or tenderness
Fade over mo-yrs rather than days
Vasculitis
Purpuric rash;lesions d/t breakdown of vascular walls
HSP- usually LE, arthralgia, abd pain
Osteogenesis imperfecta
Genetic disorder resulting in brittle bones
prone to repeated fx
Phytophotodermatitis
Burn-like skin lesion when sun interacts w certain fruits/veggies (lemons, oranges, celery, figs)
Congenital pain insensitivity
child doesn’t feel pain and/or temperature
Injuries that are likely abuse
Bruise trunk, ear, neck Bruise in infants who are not cruising Long bone fx in non-walking Rib <1 YO Subdural hematoma <1YO Hollow viscous <4 YO
Lab studies to order in Child Abuse case
Coag CBC w/diff CMP Amylase UA Toxicology Stool gauc
Child abuse CTs
All are WITH contrast besides Skull
Osteog Imperfecta
“Brittle bone dz”
OI
A. Dominant
Type 1 collagen
OI
Type 1: mild, most common
Type 2: most severe (prenatal lethal)
Type 3-9: variable
OI clinical
excessive/atypical fractures BLUE SCLERAE short stature, bowlegs Scoliosis/kyphosis- breathing diff Hearing loss Opalescent teeth Ligament/skin laxity
OI dx
“Wormion bones”
“Codfish vertebrae “
fractures at various stages of healing
OI dx
Labs: Biochemic test: Type 1 collagen
Vit D, phosph, alk phos may be normal or elevated with recent fracture
OI dx
Hypercalcemia is common and relates to severity
Think of all the Calcium leaving the bones- into the blood
Meds for OI
Pamidronate(Biphosphonate)
IV infusion, extensive
Risk: hypoCa2+, necrosis of jaw, Nephrotoxic
Dx of OI can be with:
biochemical testing of collagen
Buzz words for OI
Blue sclera
Wormion bones
Codfish vertebrae
progressive hearing loss
Marfan synd
FBN1 mutation: connective tissue protein
A. Dominant
Marfan
tall, thin, inc arm span
Scoliosis
Arachnodactylyl*
Pectus deformity
Hypermobile joints with laxity
Two main clinical from Marfan
Arachnodactylyl
Hypermobile joints
Marfan synd
Cardiac:
*AORTIC RUPTURE risk
Mitral valve prolapse
Marfan synd
preD to spontaneous Pneumothorax
Marfan syn
Eye: myopia (nearsightedness), lens subluxation/ dislocation
Marfan synd dx
CVS or amniocentesis
DNA testing: defective gene
Marfan synd dx
Echo/ECG: routine eval and monitoring*
Marfan synd tx
Beta blockers**
FBN1 gene
Marfan synd
Key concerns for Marfan
Aortic diss
Pneumothorax
Ectopia lens
Prader Willi synd
Chromosome 15- long arm
absence of paternal gene expression
PWS
absence of Paternal gene expression
Hypoth or Pit dysfx- primary central Growth Hormone deficiency
PWS
occur spontaneously
most common syndromic form of obesity
PWS and genetic imprinting
expression of gene depends on gender of parent donating this gene
LOSS OF PATERNAL
PWS
Paternal deletion or Maternal disomy (more autistic behavior, less distinct features)
PWS
no father chromo information on chromo 15
PWS clinical
almond shaped eyes traingular mouth narrow forehead smaller hands and feet depigmentation (subtle)
PWS clinical
hypogonad
sterile
Intellectual disability
increased risk Osteoporosis
PWS
behavorial, intellectual
food seeking
developmental delay
PWS classic *****
Infants: profound hypotonia (LOW TONE)
Failure to thrive, feeding difficulty
Then in early childhood: Hypophagia (overeat) and weight gain, bing eating
PWS dx
Molecular genetic test (methylation analysis)
PWS tx limited
Replace HGH and testosterone/estrogen
+ other common sense
PWS complications
Diabetes, Heart dz, Stroke
Sleep apnea
Joint wear and tear
Pyschological
Fragile X
Most common inherited INTELLECTUAL disability
(Screen young M with intellectual concern)
More common/severe in Males
Fragile X
X linked recessive
Fragile X
INTELLECTUAL impairment Developmental delay Autistic behavior Inability to cope w transition Hyperactive Anxiety Behavior tantrum Seizure
Fragile X clinical
soft smooth skin Macrocephaly large ears long narrow face MSK: joint laxity hypotonia pes planus Strabismus or blue iris Mitral valve prolapse Macro-orchidism after puberty
Fragile X dx
CGG repeated in FMR1 gene
Pre-mutations: primary ovarian insuff (FXPOI)
Tremor/ataxia synd (FXTAS)
Fragile X tx
Multidisc Echocardiogram MRI - seizures GERD- meds and therapy PT, OT, speech, Education (IEP) plan
DiGeorge synd
deletion on chromo 22
Autosomal Dominant
DiGeorge synd triad
Cardiac abnormality
Thymus- T cell deficiency
Low Ca2+
DiG synd partial vs complete
depends on how much thymus fx they have –> immunity
Cardiac effects of DiG
Severe: cyanosis, HF, failure to thrive, resp distress
Thyroid effects of DiG
thymus absent in complete
IMMUNODEFICIENT
Calcium of DiG
hypocalcemia d/t underdeveloped Parathyroid
DiG sx
Palatal defects-cleft * GU abn* Recurrent infection* Developmental/intellectual behavioral
DiG dx
Decreased CD3 T cells +
clinical findings
Initial eval of DiG
Urgent echo
Labs: CBC w/ diff showing Ca, Phosph, T, B cells
Renal US
CXR: “thymic shadow”
DiG tx
Cardiac possible surgery
Speech, behavior
CAUTION w LIVE VACCINES
Complete DiG
Life exp <1YO without treatment
Thymic transplant
HCT (stem cell transplant)
47XXY
Klinefelter
microorchidism
gynecomastia
mild language delay/ learning dis
Klinefelter
Testosterone low, FSH and LH high (d/t lack of neg fdbck)
infertility
Speech therapy and counseling
Turner synd
45 XO
higher risk of X linked recessive disorders
(like hemophilia)
Turner synd
short stature
Webbed neck
broad chest/shield chest
lymphedema on infants
Turner synd
Cardiac: COARCATATION OF AORTA
and bicuspid AV, HTN
Turner synd
Cubitus Valgus (wide carrying angle)
GU: streaked and underdeveloped
Amenorrhea
Renal: Horseshoe kidney
Turner synd tx
In vitro Fertilization IVF
Estrogen therapy
Monitor for gonadal malignancy (streaked gonads)
Tri 13: Patau
defect of Prechordial mesoderm
midline Craniofacial, eyes, forebrain
quite severe
Tri 13: P
Cleft lip
sloping forehead
MSK: hypotonia
“rocker bottom”
Majority die in utero
Tri 13:P
if survive birth, most die by 1 mo of age
aggressive surgery may get to 2 YO
Tri 18: Edwards
more common Female 3:1
low birth weight
HYPERTONIA, spasticity
Tri 18: Edwards
Majority die in utero, more likely to survive birth
50% die w/in 2 weeks
only 5% survive past 1 yr
Severe intellectual dis if make it to 5 YO
Tri 21
Most comm chromo abn
Cognitive imp and develop delay vary
Risk w advanced maternal age
Tri 21
Flat nasal bridge "Brushfield spots" large protruding tongue short neck narrow palate
Tri 21
Cataracts hearing imp abn teeth CHD: AVSD, VSD 50% of has CHD Pulm HTN sleep apnea GI: Hirchsprung, Celiac, chronic constipation
Tri 21
Hypotonia
Atlanto-axial instability
Short hands
Transverse Palmar crease- straight across hand