Congenital malformations Flashcards
what is cleft lip and clef palate (full)
1: 1000 babies -failure of fusion of frontonasal and maxillary plate
combined lip and palate (45%) > isolated palate (40%)> isolated lip (15%)
RF-maternal BDZ and antiepileptic use
75% detected at 20w scan -
Mx - MDT with plastics, ENT< paeds, SALT, etc
surgery at 3m for lip, 6-12 for palate
before that - specialised feeding, watch out for airway issues
PRe surgerical lip taping, oral appliences and/or moulding to narrow cleft
before surgery monitor otitis and feeding difficulties
Increase risk of secretory otitis media -so always watch out for hearing issues + eating disorders + weight loss (or slow weight gain) ==
What is diaphragmatic hernia (full)
1:2000 births -occurs as diaphragm doesnt for properly (6-8 w)
Part of intestines moves up through left chest area -stops lung development
85% left sides
Prognosis depends on liver position and lung to head ratio
Sx - often found on 20w USS or at birth
Concave chest at birth
Resp distress in neonate (RR>60, absent breath sounds, cyanosis etc)
CAn hear bowel sounds in chest
complications - obstruction (And assocaited Sx), volvulus of stomach, ARDS)
Ix
CXR -displaces mediastinum to left, collaspe L lung, bowel loops in thorax
Mx - NG tube and suction -for obstruction and allow breathing to ocur
2nd -surgery -reduce/repair, reinflate lung
What is transoesopheageal fistula and oesophaegeal atresia (Full)
OA = mlaformation of oesophagus not connecting to stomach
TOF - part of oesophagus connect to trachea (5 type -type A is OA, Type B is upper oeso connect to trachea, type C is lower oeso to trachea, D is both upper and lower but not to themselves, H- normal oeso but has a connection to trachea)
Type C most common
Sx - stomach acid regurgitate to lungs -CLD/BPD
associated with polyhydroaminos, other development issues
Ix - Ng tube to aspirate tomach content quickly excludes
Gastrograffin swallow -gold standard
Mx - 1st -replogle tube -drain salive from oesophagus
2nd -surgery few days after birth +NICU
complications -longer to adapt to solids, tracheomalacia, resp complications, GORD, feeding issue due to strictures
What is biliary atresia (full)
Very very rare 50 case a year -no connect from biliary to rest
T1 -common bile duct gone -accumualte in liver
t2 -cystic duct gone -cant go to gall blader
t3 -full -rest
causes progressive fibrosis of hepatic trees- liver failure in 2 years
Sx
Obstuctive jaundice - mild jaudince, pale stools, dark urine, steatorrhoa, NO VOMIT
normal birth weigth -> quick falter
hepatosplenomegaly
Ix-- raised conjugated BR >14days 1st line - USS-triangular cord signs LFT -cBR, raised AST, ALT, GGT, ALP -obstructive pic gold standard - tibida isotope scan confirm -ERCP +biopsy
Mx-
surgery -kasai hepatooportoenterostommy
2nd line -transplant
mx of complications using FUP
F-fat soluble vitamins
U-Urseoxycholic acid -promote bile flow
P -prophylaxtic abx
what is small bowel atresia
congenital malformation of small bowel -absence or complete closure of lumen -cause unown
duodenal atresia - associated with polyhydroamnios, downs (33%), cardiac abnormalities
duodenal stenosi -not fully obstructed
Juj atresia -more common, same sx just later
ileal-same
Sx -
Jujenal/illael atresia -BILE STAINED vomiting 24h after birth -Mx as obstruction
Duodenal - non bilious or bilious vomit (depends if before or after spincter of oddi)
Abdo distention
Ix - Bloods - LFT, uBR, INR, amino acids
urine -
AXR - duodenal -double bubble sign (stenosis)/ Jej -air fluid levels
Mx - ABCDE to stabilise + ng tube decompression
dudodenosestomy for duodenal
Laparotomy for jej/ilael
need to examine full bowel for other atresia
complications -pulm aspiration, anastamosis complications, proximal bowel can have abnormal peristalsis -post op TPN
What are anorectal abnormalities
2 type - low anorectal abnormality -anus closed or different position (or lower than usual)
High anorectal - bowel closed higher up -not connected with anus
Sx - no/delayed meconium -swollen abdo, vomiting
if fistula to skin -pass stool from weird area
Ix -clinical exam-checked on neonatal check
Mx -surgical correction by 9m depending on abornmality (hgih rectal -early, low rectal fistula can wait a bit)
What is Crypoorchidism (undescended testes)
RF -prematuriry
normal descent is by 3m of age, but can take 6m
Mx -
Unilateral at birth -idiopathic and self resolve-
review at 6week check -if still revew at 3m. if still refer to paeds surgeron, see before 6m
bilateral at birth -pit causes (controlled by testo) -refer to paeds endocrinology
if any sign of disorder of sexual development (ambiguous gentitalia -senior paeds_
Retracile -come down but in and out -detect at 3m and review every year
surgery =orchidoplexy
medical -bHCG -stimulate descent)
What are urinary tract abnormalities (RF. Sx, causes)
Congenital abnormalities to kidneys, bladder or urethra
aettiologyy or congenital abnoramlities of kdiney and UT
genetic -potters sequence -renal issues (ARPKD, Renal agenesis _=> oligohydramnios -> issues)
Kidneys - ARPKD (policystic), renal agenesis, medullary spongy kidney, horseshoe kidney Non renal -plevouteric junction (PUJ) obstruction Vesicoureteral reflux (VUR) -30% of children with UTI bladder outlet obstruction
Sx
Anternatal -oligohydramnios + decrease foeatal Urine output
Post -irrtable, UTI’s
Decrease urine
intra abdo mass, heamaturia, renal calculi/failure
HTN, hepatosplenomegaly
Ix and Mx of CAKUT
Renal USS -
DMSA -tc99c 0 detect scarring and functional defects -sensitive 2m after last UTI
MCUG - visualise anatomy -see VUR, urethral obstuc -not past infancyt
MAG3 renogram -
Mx -
CAKUT =manage with surgeries (all the issue_
CAKUT presenting with UTI
always atypical UTI - Poor urine, abdo/bladder mass, raised creat, sepsis, non respinding, non e.coli organism
all children with atypical get renal USS for abnormalities -DURING
all children with reccurent UTI <6m - USS during
reccurent >6m -uss less than 6 weeks after
first UTI <6m -
2nd line -DMSA scan (at least 2m after UTI)
all children with reccurent in 4-6m
atypical UTI
3rd or VUR -MCUG/VCUG
VUR suspected, male with ITU, obsturction, trauma
What is vesicoureteric reflux
VUR -ureters enter the bladder peridendicularly -shorter intramural -causes reflux, reccurent UTIs in children
up to 30% of children with UTI can have VUR
Ix -MCUG to diagnosis, DMSA for scarring
Class -
I - reflux in ureter, no dilation
II -reflux to renal pelvis, no dilate
III - mild moderat dilation of ureter/pelvis
IV - dilatation of renal pelvis,
V -gross dilation of renal pelvis and calyces + ureteral tortuosity
complication
HTN, renal osteodystrophy, UTI and calculi
Renal causes -bad prog (end stage failure)
Non renal cause =prog good
