Pead3 Flashcards
Glucose-6-Phosphatase deficiency?
Glycogene -1-storage(Von Gierke disease) Typically present 3-4 month age Due to the absence of enzymes in the Liver, Kidney, and intestine Hypoglycemia Hepatomegaly Lactic acidosis Hyperuricemia Hyperlipidemia Doll like face Thin
Cause of asplenia?
Anatomic(Surgery, absence)
Functional(autoasplenia due to fibrosis(SCD),Infilitrative disease(sarcoidosis),Chongestion(PHTN)
Complication?
High risk of encapsulated organism asplenia
Holy jolly bodies(precipitated nuclei remaining)
What about Heinz’s body?
Seen in G6PDH deficiency
Is precipitated Hb
Seen by Special stain(Crystal Violate), unlike HJB which can be seen by wright stain.
What about basophilic striping?
Multiple, blue-green pigment on pheriphery
Sign of hypotonia in Down Syndrome?
protruding tongue
flaccid abdomen
Loss of extremity flexion(slip from examiner’s hand)
Visual acuity testing In children?
All children age 3-4
Snell chart
HOTV or LEA(Pic) in not lerned child
All other tests should be done routinely?
Red reflex testing(cataract & retinoblastoma)
Corneal reflex(alignment)
Cover test for old children to assess strabismus
Indication for the referral?
Pupil asymmetry >1 mm <20/40 at age 4 and <30/40 in 5 and above Nystagmus Ptosis other conditions obstruct vision
Autism screening?
at 18 month/2 year
Depression?
at age of 12
Laryngomalacia?
A common cause of stridor in infants.
CM?
Inspiratory stridor
Increase inspiration(feeding,crying) exacerbate stridor
GERD feature
Omega shaped epiglottis
management?
mainly resolve by 18 month
Surgery indicated in case of RD, Cyanosis, and failure to thrive
Stridor types and cause?
supraglottic lesion–Inspiratory S
Subglottic lesion–Biphasic
Tracheal(Intratoracic airway)–Expiratory
Henoch-Schonelin purpura pathogenesis?
IgA mediated leukocytoclastic vasculitis
CM?
Palpable purpura Arthritis/Arthralgia Abdominal Pain Intussusception IgA nephropathy similar renal feature
Lab?
Normal platelet and coagulation Normal/Raised Cr. haematuria \+/- proteinuria/RBC cast Nephritic/nephrotic syndrome in adult
Managment?
Suportive(fluid and NSAID)
admission and systemic CS in sever case
Kawasaki disease complication?
Aneurysm–thrombosis–MI
Chronic granulomatous disease feature?
X-linked recessive
Recurrent pul. and skin infection
Catalase producing bacteria(S,A ,burkloderia,seratia and aspargilus)
Diagnosis?
DHR test
NT test
How about Hyper IgE(Job syndrome)?
may have rec skin abscess and pul infc. but the patient will have facial deformity(broad nose) and bone abnormality(scoliosis) and strong family Hx(AD)
TODD paralysis?
Occur in post ectal phase Flaccide weakness/paralysis Involve one/both extremities in one side due to nuronal exusion CT recommended to r/o other serious cause The seizure may not be witnessed
Heamoglobine concetration in normal individual?
HgA–95-98
HgA2-2.5%
FH–<1 %
SSH–Absent
HgA1?
Thalassemia Mi/SST–Low
Thalassemia Mj/SSD–Absent
HgA2?
Hihg in Thalassemia mi/Mj
Normal in SSD/SST
HgF?
Near normal in Thalasemia Min/SST
High in Thalasemia Maj/SSD
SShb?
high in SSD/SST but absent in thalassemia
Thalassemia major cxs and Tx?
hemolytic Anemia
Splenomegaly
treat by frequent transfusion and chelation for iron overload
Cause of pneumothorax in neonates?
HMD
MAS
Due to rapture
Managment?
If life-threatening emergency needle thoracotomy
Continue If pat on CPAP
Reduce PEEP if on MV
What to do inpatient with hypospadias?
leave circumcision
karyotype-Asses mosaicism
renal U/S(asses internal genitalia)
what is associated with it?
Undescended tests
Cordea
Conjecital hernia
effect of maternal estrogen on neonates?
Breast enlargement
Luckorachia
minimal Vx bleeding(withdrawal)
Labia enlargement
Managment?
Transient
Not need workup
spontanious Pnumomediatrnum CM?
Acute chest pain SOB Cough Subcutaneous emphysema Crunching sound over the heart
diagnosis?
C-X-ray
managment?
rest
analgesics
avoid valsava
Risk factor?
RTI
asthma exacerbation
Tall, thin adolescent
mickle diverticulum symptoms?
asymptomatic
lower GI bleeding
Anemia
complication?
Volvulus
Intussusception
Obstruction
Diagnosis and managment?
TEC scan
Surgery if symptomatic
Etiology of galactosemia?
AR
Due to GALT deficency
CM?
Cataract Hepatomegaly Jaundice Vomiting and failure to thrive Hypoglycemia High risk of E.Coli sepsis
Lab?
Bilirubin elev.
Metabolic acidosis
Low glucose
+ urine reducing substance
