Choreoathetosis seen in
Lesh nyhan it has gout n mutiln
Complete hgprt dcy
Partial without cns is ks miller sd
Female collapsed after delivery and resp distress. O hage other everything ruled out
Amn fl embolism
Hypotn and baradycardia
Neurog shock
OI AND CHL
Von der hoeve sd
Otosclerosis n oi
Mc collagen in eds
And airt dissn type
Col5
But vasc type defect in col3 and has ao dissn
Col1 is in oi
Homocysteinuria
Defect with vit b6 9 12
Hcyst to cysteine is by 6
And homoc to methion b9 12
OI AND CHL
Von der hoeve sd
Otosclerosis n oi
Frameshift mutn eg
Beckers md
Deltn is seen in dmd
Arachnodactyly dd
Homocysteinuria
Marfans
Diff is in lens subluxn
Microcephaly 4 dd
Microceph and palmar single crease downs
Microce and rocker bottom feet n clenched hands edw sd
Microceph cleft lip palate cutis aplsia polydactyly pataus
Micro n high pitch cry cri du chat sd
Terratty of methimazole carbi
They cause cleft lip palate
Cuitis aplasia
Eso atresia
Choanal atresia
They r given in second tri only n not in one
Ptu not in second dt agranulocytosis
Colon ca with INF ENDOC
S.bovis/ galolyticus
Red current jelly stool
Painless or painful see
If pain then intussuss so ioc is enema as txic also koi bhi enema
If pain less meckels tc 99 pertechnate lead pt mention hua hoga
Pre renal aki
Fena <1%
Bun:creat > 20:1
Her angioedema
Reduced c5 c1 esterase levels
Ace i are contra insicated
Toc danazol
Brutons agammaglobulinemia
No mature b cells
Male child of more than six mnths
Recurrent infections
Catalase positive
Space
Aerratia
Staph
Pseudo
Asperg
Candida cryptococcus
EnterBACTER
ENTEROCOCCUS IS NEGATIVEEEE
Ioc for cgd
Space organisms
G.omas
Recurrent infns
Ioc dhrhodamine test
Other than nitro blue tetrazolium test
LAD1
N,philia
Umb cord sepn is late more than thirty days
Re urrent mucosal skin infns
No PUS
Vs if umb cord bl.ing but separn easy then 2 dds
Ie if immunodcy then wiskott aldrich
If no i.dcy f13 dcy
Umb
Condns where igE RAISED IN IMMUNODCY
Jobb sd with a lot cold abseccess with eczema
Wiskott aldrich
Atm
Immunodcy and ataxia
Ataxia teneg
Chr s11q22.3
Trn 7:14
Lysosomal fusion prob seen in
Loss of fn of kyst gene ie chediak heg sd
Remmmm the inclusion pic
Albinism
Oerip n.pathy basucally neuro probs
Pancytopenia dds
Pancytopenia hsm with ehrlyn maeyer flask GAUCHER
PANCYTO EWITH CAFE AU LAIT AFNCONIS ANEMIA ISA TAR DS
PANCYTOPENIA with pancreatic insuffcy pan pan mann schawachmann diamond ds
Vs diamond blackfan rem diamond is pureeee prca!!