Pead 7 Flashcards
Normal leg alignment in devt?
6 mon–Genu varum
2 year–Straight leg
4 year—Gnu Valgum
> 7 years —Strait’s leg
Normal genu varum Cxs?
Symmetric
Normal stature
No leg discripancy
No lateral thrust while walking
Rett syndrome pathophysiology?
Loss of neurodevelopment due to dendrite formation in cortex defect and neuromodulation
X-linked
MECP2 gene defect
Key feature?
Present 6-18 month Usually females Normal development then regression Loss of speech Gait abnormality Loss of purposeful hand movement
additional finding?
Seizure Respiratory difficulty Head growth restriction Sleeping problem Autistic behavior
Kallman syndrome genetics and pathogenesis?
X-lR/AD or AR in wommen
46 XY/XX chromosome
Failure of the olfactory and GNRH producing neuron migration—prosencephalon hypoplasia and Central hypogonadism
CXS?
Hypogonadotropic hypogonadism
Delayed puberty
Anosmia/Hyposmia
delay puberty in females?
> = 12 year
sign of puberty?
Growth of pubic hair, other body hair, and facial hair. Enlargement of testicles and penis. Muscle growth. Growth spurt. Acne. Deepening of the voice.
osteoid osteoma pathogenesis?
Benign bone-forming tumor
MC in adolescents boys
CM?
The proximal femur is MC site
Leg pain(worse at night, Relived by NSAID and not related to activity)
No systemic symptoms
Tenderness, Swelling, and deformity
X-ray?
Small round lucency
Managment?
NSAID
Serial x-ray
Surgery for refractory case
neuro complication of meningitis?
intellectual and behavioral disability
hearing loss( chochlial infn–fibrosis and calcification)
seizure
cerebral palsy
risk factor?
young age
high bacterial load
prolonged seizure
what to do?
audiometry screening(asymptomatic early and difficult for tx after ossification)
What px neded in patient with SCD?
Twise dailey prohlactic penicilin untill age 5
CM of autism spectrum disorders?
Deficiet in social comunication and intraction
Restricted,repititive pattern of behaviour
-/+language and intelectual impairment
Changing to new things induce anxiety
Deficiet in social comunication and intraction Cxs?
Sharing of emotional interest
Difficulty in verbal communication
Develop and understand relation
Restricted,repititive pattern of behaviour?
Repititive movt/speche
Insistanse on samness/routiness
Intense fixated interest
Adverse responce to sensory imput
Managment?
Compresive(Sp,Beh,edu service)
Pharmacotherapy for concomitant psychiatric illness
asymptomatic isolated protinuria aroch?
Do first morning urine Pr/Cr ration
If normal:transient/orthostatic protinuria
If high evaluate for glomerular/parenchymal illnes
Transient protinuria?
Fever Stress Exersise Seizure Volume deplesion
orthostatic protinria?
adolecent boys
standing(at end of day + ve and -ve at morning)
Constitusional delay of growth and puberty?
family Hx Delay growth b/n 6m-3Y Short stature(<2SD) Normal growth velocity >= 3 year Delay in bone age(Cxs) Delay in puberty Reach normal adult hight lately
How to d/t with familial short stature?
Short family
Not reach adult hight
but may have normal velocity
In GH deficiency?
short stature
Delay in growth velocity
delay in bone age
In gonadal?
Normal bone age
Nutritional?
wight also affected
Managment of CDGP?
Reassurance
+/- Hormonal tx
febrile seizure diagnostic criterion?
Age 6m-5year
No px febrile seizure
No metabolic derangement
No sign of CNS inf
managment?
abortive(>5min)
fever tx
reassure and discharge(risk of rec in first 24 hr is low)
educate a family(High risk of feature FS and 15 epilepsy)
Abnormal sexual behavior in children?
precocious sexual knowledge
object insertion to the anal, vagina, or oral area
using force, bribe, and aggression in a sexual act
preoccupied with masturbation
sign of sexual abuse?
Anogenital trauma
Coercive sex act
Repeated UTI
empiric managment of epiglottitis?
Ceftriaxon(HIB,NTHI,SPy,Spnu )
Vancomycine(MRSA)
slipped capital femoris CM?
MC in adolescents
Unable to weight-bearing and climbing
Unable IR, Abd, and Flexion of hip
Pos and inferior displaced femoral head and sup, anteriorly displaced femur
Parader will syndrome genetics?
maternal Uniparental disomy Cr 15
Due to deletion/mutation in paternal cr.a5
Parader will syndrome CM?
hypotonia weak sucking excessive feeding obesity short stature hypogonadism Intellectual disability facial dysmorphism
facial dysmorphism?
Narrow forehead
Almond-shaped eye
Downturned mouth
Complication?
Sleep apnea
T2DM
Gastric distension/rapture
Death by choking
Diamond black fan anemia?
pure red cell progenitor defect low RBC half-life Low HCT, Reticulocyte Macrocytic anemia Normal platelet and WBC Craniofacial anomaly Triphalengial thumb High risk of malignancy
Managment?
Corticosteroid
Transfusion
food-induced allergic proctocolitis pathogenesis?
family/personal hx of allergy, asthma, and eczema
Non-IgE mediated allergically proctocolitis
Occur in infants feed milk protein or in breastfeed mother usage of milk and soy proteins
CM?
Painless bloody stool
+/- spit-up
managment?
Dietary modification(infant and mother) Resolve by itself after 1 year Use hydrolyzed(metabolized protein)formula
backwith-widman syndrome pathogenesis?
deregulation and impaired gene expression in 11p15
gene encodes ILGF2
CM?
Macrosomia and fast growth until late childhood
macroglossia
Midline defect(Umbilical hernia and omphalocele
Himihyperplasia
complication?
Wilms tumor
Hepatoblastoma
Neonatal hypoglycemia(hyperinsulinism)
Surveillance?
Serum alpha protein
renal U/S
RBS
pathogenesis of phenylketonuria?
Phenyl hydroxylase deficiency
Autosomal recessive
Failure to convert phenylalanine to tyrosine
CM?
Musty body odor
Seizures
Severe intellectual disability
Hypopigmentation involving skin,hair,eyes, and brain Nuclei
Diagnosis and managment?
Newborn screening(tandem mass screening) quantitative amino acid analysis(phenylalanine) Dietary restriction of phenylalanine
IDA and PLT count?
IDA cause reactive thrombocytosis
What to do if parents refuse to vaccinate their children whether due to personal or religious beliefs?
Respect their decision
Explain on benefits of vaccination
A document that you explained
Acute rhinosinusitis suspect bacterial?
Fever > 3 day
New/Recurrent fever after initial improvement
Persistent system >= 10 day
Viral RhinS?
No/early fever resolution
Mild facial pain/tenderness
Improvement & resolution by day 5-10
General symptoms?
Nasal congestion &/or purulent discharge
Facial pressure/pain
Cough, headache,loss of smell and ear pain
Managment?
Intranasal saline/irrigasion by saline
NSAID
Antibiotic if bacterial
What to do in patients with pyloric stenosis?
First, correct DHN and electrolyte loss before surgery(Reduce post-operative apnea risk and overall outcome)
what to suspect if the patient develops ecchymosis and haemarthrosis with minimal trauma?
Suspect coagulation disorder
Managment of SCA maintenance?
Vaccination
Penicillin until age 5
Folic acid suplementation
Hydroxyurea if have an indication
What are the indications for hydroxyurea?
Recurrent pain crisis
History of acute chest syndrome
Sever symptomatic anemia
Mechanism?
Reduce SCHb percent and increase FHb —Reduce pain crisis by decreasing vascular obstruction.
Managment of acute pain crisis?
Hydration
Analgesia
+/ transfusion
