07-24-2008, 11:42 PM
1.zellwegers syndrome peroxisomal disorder high forehead upslanting papebral fissures hypoplastic supraorbital ridges epicanthal folds ,redundant skin thickening on the neck ,seizures ,wide open sutures they rarely cross 1 month( newborn investigated for sezures with typical facial dysmorphism )
2.neonatal adrenoleukodystrphy ---- hepatomegaly impaired liver function ,pigmentary deposition on the retina ,imparired hearing deafness
3.infantile refsum disease gait abnormaliies ,pigmenary deposition on the retina,sensori neural hearing loss , upslanting palpebral fissure low set ears
4.clasic refsum disease in adult hood night blindness icchtyosis ,retinitis pigmentosa ,peripheral neuropathy , cardiac arrythmias
5.Xlinked adrenoleukodystrophy accumulation of long chain fatty acids noted in 4 to 8 yrs with hyperactivity , poor hand writing ,ataxia ,strabismus and adrenal cortex dysfunction ..
6.3 most commom oragnism causing pneumonia in a CF patient 2 gram negative rods h influenza and pseudomonas and staph aures
7.m/c cause of amblyopia is strabismus medial deviation of the eye is the most common and the treatment is covering up the normal eye
8.no investigation is needed for migraine only if there is fever and neurological deficit then needed , treatment is reassurance and acetaminophen in the children ,children with migraine usually present with shoulder pain and abdominal pain otolgia
9.u/l flank mass in a child is most likely due to willms tumor that arises from metanephros , B/L flank mass is pckd
10.Asthma when not controlled by medication shold be an indication or mechanical ventilation
11.patient with leckocyte adhesion defect suffer from recurrent bacterial infections ,delayed seperation of umblical cord and preiodonic infections and early loss of decidual teeth
12.cerebrl anoxia most common cause of cerebral palsy
13.Infection with RSV may increae the risk of asthma in later life
14.kawasaki disease characterized by diffuse conjenctival infection , fissure on the corner of the mouth , red tounge , diffuse erythema of palms and soles unilateral lymphadenities
15.upper GI endoscopy is the investigation of choice when a patient presents with acute alkalai injection
16.Reyes syndrome chldren < 15 yrs aspirin lethargy confused agitated nono coperative AST elevated ammonia elevated pt elevated and increased csf pressure , microvesicular steatosis of liver kidney etc mangement supportive
17.1st day baby congectival injection cause chemical conjectivits due to silver nitrate
2- 5 days conjectival injection if no silver nitrate given at birth its gonococal conjectivities purulent dischrge treatment topical erythromycin
fewdays to weeks after birth conjectival irritation mucoid discharge its chlamydial in this case oral erythromycin .bcoz of risk of pneumonitis
gonococcal -topical
chlamydial -oral
18.leckocoria( white eye reflex) is retinoblastoma until otherwise refer to opthalmologist .
19.growing bone pains in child between 4 to 7 years B/L below knees only at night treatment is reassurance massage analgesics
bonepain due to tumor is unilateral and through out the day
20calcefied lesion above the sella its craniopharyngioma , presents with bi temporal hemianopia due to compression on the optic chiasma
21.tetanus neonatus ,poor unblical cord hygeine , regidity spasm poor suckling fatigue spasms preventive measures maternal vaccination and hygeine maintanance
22.meconium ileus occurs in cystic fibrosis patients it occurs with billious vomiting failure to pas sools and granular ground glass appearance of abdomen on xray , meconium plug syndrom occurs in non CF patients meconium ilues cause perforation whereas meconium plug syndrome doesnot cause perforation ,
23.lymes disease stage 1( erythema migrans ) less than 9 yr od amoxicilln 500mg po bd for 21 days
for >9 years doxycycline 100mg bd for 21 days
24 .cephal hematoma sub periosteal hemorrhage doesnot cross suture line resolves spontanously in 2 weeks rarely photo therapy needed no change in the appearance of the skin
-caput succenadum diffuse echymotic swelling of the scalp crosses suture line on the vertex position of the fetal head during delivery
- cranial meningocele has pulsations and xray evidence
intra cranial hemorrhage presents with poor feeding suckling cyanosis convulsions metabolic acidosis , hematocrit decreased and shock and swelling of the skull
-depressed fracture on the calvarium piing pong ball due to forceps delivery
25.vit A has showm to reduce morbitiy and mortality in measels patients
26.iron formulations in the form of iron fortified milk formulaes should be started at 6 weeks for all premature and low birth weight babys
27 . vaginal discharge in babay is due to maternal estrogens so reassurance is all that is needed
28. IVH is most common in premature and LBW babies
29.fragile x syndrome large head low set ears learning difficulties and macroorchidism
29.fetal alchool syndrome is long philtrum ;hyoplastic maxilla microcephaly
30.mutation of CF m/c is deletion of threee base pair of phenyalanine gene DA508
31.urinalysis is the preliminary investigation of choice for all patients of renal disease
32.criduchat syndrom due to 5p deletion moon like facies hypertelorism high arched palates flate nasal bridge , short stature CAT like cry
33.osteogeneis imperfecta is caused by mution is type 1 collagen recurrent fractures blue sclera
deafness
34.epiglottis rolling from side to side is diagnostic of laryngomalacia such babies should be fed with upright position
35.m/c fracure in children is supracondylar fracture when the fracture is reduced radial artery checked to check the intactness of brachial artery
36.edwards syndrome trisomy 18 ,prominent occiput ,closed hand fist rocker bottm foot , index fingure overlapping the 3rd fingure and 5th fingure overlappinf the 4the finger
37.red tounge fever erythematous palma fisure lip rash on body not on face Kawasaki disease aspirin and immunoglobulin is the treatment of choice , influenza vaccination is recommended in thiese patients
38.3yr old child fever stridor drooling lateral xray shows thumbs sign (swollen epiglottis ) tx is intubation not wait for xray
39.breast milk jaundice( 3 rd wek ) , erythroblastosis fetalis , physiological jaundice ( 24 hrs - 1 week ) all elevated unconugated bilirubin
40 .contraindications for breast feeding active hiv , active tb , breastt cancer , maternal typhoid fever, septecemia , nephritis , hemorrhage , herpes simplex active lesion , relative contreaindication post partum psychosis , debility , poor nutrition , substance abuse
GL
2.neonatal adrenoleukodystrphy ---- hepatomegaly impaired liver function ,pigmentary deposition on the retina ,imparired hearing deafness
3.infantile refsum disease gait abnormaliies ,pigmenary deposition on the retina,sensori neural hearing loss , upslanting palpebral fissure low set ears
4.clasic refsum disease in adult hood night blindness icchtyosis ,retinitis pigmentosa ,peripheral neuropathy , cardiac arrythmias
5.Xlinked adrenoleukodystrophy accumulation of long chain fatty acids noted in 4 to 8 yrs with hyperactivity , poor hand writing ,ataxia ,strabismus and adrenal cortex dysfunction ..
6.3 most commom oragnism causing pneumonia in a CF patient 2 gram negative rods h influenza and pseudomonas and staph aures
7.m/c cause of amblyopia is strabismus medial deviation of the eye is the most common and the treatment is covering up the normal eye
8.no investigation is needed for migraine only if there is fever and neurological deficit then needed , treatment is reassurance and acetaminophen in the children ,children with migraine usually present with shoulder pain and abdominal pain otolgia
9.u/l flank mass in a child is most likely due to willms tumor that arises from metanephros , B/L flank mass is pckd
10.Asthma when not controlled by medication shold be an indication or mechanical ventilation
11.patient with leckocyte adhesion defect suffer from recurrent bacterial infections ,delayed seperation of umblical cord and preiodonic infections and early loss of decidual teeth
12.cerebrl anoxia most common cause of cerebral palsy
13.Infection with RSV may increae the risk of asthma in later life
14.kawasaki disease characterized by diffuse conjenctival infection , fissure on the corner of the mouth , red tounge , diffuse erythema of palms and soles unilateral lymphadenities
15.upper GI endoscopy is the investigation of choice when a patient presents with acute alkalai injection
16.Reyes syndrome chldren < 15 yrs aspirin lethargy confused agitated nono coperative AST elevated ammonia elevated pt elevated and increased csf pressure , microvesicular steatosis of liver kidney etc mangement supportive
17.1st day baby congectival injection cause chemical conjectivits due to silver nitrate
2- 5 days conjectival injection if no silver nitrate given at birth its gonococal conjectivities purulent dischrge treatment topical erythromycin
fewdays to weeks after birth conjectival irritation mucoid discharge its chlamydial in this case oral erythromycin .bcoz of risk of pneumonitis
gonococcal -topical
chlamydial -oral
18.leckocoria( white eye reflex) is retinoblastoma until otherwise refer to opthalmologist .
19.growing bone pains in child between 4 to 7 years B/L below knees only at night treatment is reassurance massage analgesics
bonepain due to tumor is unilateral and through out the day
20calcefied lesion above the sella its craniopharyngioma , presents with bi temporal hemianopia due to compression on the optic chiasma
21.tetanus neonatus ,poor unblical cord hygeine , regidity spasm poor suckling fatigue spasms preventive measures maternal vaccination and hygeine maintanance
22.meconium ileus occurs in cystic fibrosis patients it occurs with billious vomiting failure to pas sools and granular ground glass appearance of abdomen on xray , meconium plug syndrom occurs in non CF patients meconium ilues cause perforation whereas meconium plug syndrome doesnot cause perforation ,
23.lymes disease stage 1( erythema migrans ) less than 9 yr od amoxicilln 500mg po bd for 21 days
for >9 years doxycycline 100mg bd for 21 days
24 .cephal hematoma sub periosteal hemorrhage doesnot cross suture line resolves spontanously in 2 weeks rarely photo therapy needed no change in the appearance of the skin
-caput succenadum diffuse echymotic swelling of the scalp crosses suture line on the vertex position of the fetal head during delivery
- cranial meningocele has pulsations and xray evidence
intra cranial hemorrhage presents with poor feeding suckling cyanosis convulsions metabolic acidosis , hematocrit decreased and shock and swelling of the skull
-depressed fracture on the calvarium piing pong ball due to forceps delivery
25.vit A has showm to reduce morbitiy and mortality in measels patients
26.iron formulations in the form of iron fortified milk formulaes should be started at 6 weeks for all premature and low birth weight babys
27 . vaginal discharge in babay is due to maternal estrogens so reassurance is all that is needed
28. IVH is most common in premature and LBW babies
29.fragile x syndrome large head low set ears learning difficulties and macroorchidism
29.fetal alchool syndrome is long philtrum ;hyoplastic maxilla microcephaly
30.mutation of CF m/c is deletion of threee base pair of phenyalanine gene DA508
31.urinalysis is the preliminary investigation of choice for all patients of renal disease
32.criduchat syndrom due to 5p deletion moon like facies hypertelorism high arched palates flate nasal bridge , short stature CAT like cry
33.osteogeneis imperfecta is caused by mution is type 1 collagen recurrent fractures blue sclera
deafness
34.epiglottis rolling from side to side is diagnostic of laryngomalacia such babies should be fed with upright position
35.m/c fracure in children is supracondylar fracture when the fracture is reduced radial artery checked to check the intactness of brachial artery
36.edwards syndrome trisomy 18 ,prominent occiput ,closed hand fist rocker bottm foot , index fingure overlapping the 3rd fingure and 5th fingure overlappinf the 4the finger
37.red tounge fever erythematous palma fisure lip rash on body not on face Kawasaki disease aspirin and immunoglobulin is the treatment of choice , influenza vaccination is recommended in thiese patients
38.3yr old child fever stridor drooling lateral xray shows thumbs sign (swollen epiglottis ) tx is intubation not wait for xray
39.breast milk jaundice( 3 rd wek ) , erythroblastosis fetalis , physiological jaundice ( 24 hrs - 1 week ) all elevated unconugated bilirubin
40 .contraindications for breast feeding active hiv , active tb , breastt cancer , maternal typhoid fever, septecemia , nephritis , hemorrhage , herpes simplex active lesion , relative contreaindication post partum psychosis , debility , poor nutrition , substance abuse
GL