Ankyloglossia Tight frenulum (tongue-tie) Surgical release if frenulum is so tight infant can’t nurse adequately May be clipped later if child experience speech problems
Cleft Lip and Palate • Two distinct midline facial defects; can occur together or alone, and can be unilateral or bilateral • Congenital anomaly involving one or more clefts in upper lip, hard palate, and/or soft palate • Occurs very early in pregnancy, usually before mother even aware of pregnancy - mom is NOT to blame • Cleft lip occurs at about 6 weeks and cleft palate occurs at about 9 weeks gestation
Any child with one closure defect needs to be assessed for other anomalies • In 1996, folate was added to cereals and breads, and woman planning a pregnancy were advised to take folate supplements in an attempt to decrease neural tube defects. NT defects did decrease dramatically, but so did the incidence of orofacial defects
Incidence • There may be a familial tendency (therefore parents with any child with a mid-line closure defect should be referred for genetic counseling • Cleft lip occurs in 1 in 1000 live births for cleft lip and is more common in males • Cleft palate occurs in 1 in 2500 live births and the incidence in girls is double that of boys • Mid-line facial defects are more common in Japanese-Americans and are rare in African-Americans
Appearance Mid-line defects are usually readily detectable at birth; may be apparent prenatally • Cleft lip can range from small notch in upper lip to total separation of lip and face and up into the floor of the nose; • Nose may be flattened or appear mis-shaped • Cleft palate is visible with visual inspection of the palate but soft palate defects may be missed so manual palpation of hard and soft palate should be done on all newborns
Treatment • Surgical repair • Cleft lip - within first 12 weeks (typically at 4–8 wks). Early is better than later b/c lip is important to infant feeding; Also improved appearance allows for easier bonding • Cleft palate - usually between 4 to 18 months, may be up to 24 mos depending on severity of defect; May have to do repair in stages • May need dental referral, speech therapy
Nursing Care • Provide emotional support to parents as well as appropriate education; It is helpful to show parents pictures of babies after repair • Breastfeeding is to be encouraged but mom may need to express milk for several days or weeks; The expressed milk is helpful in preventing the ear infections common to cleft palate babies • Recurrent otitis media can lead to TM scarring and hearing loss
Feeding Pre Opt • Cleft lip only - no big feeding problems • Cleft palate: hold baby upright and feed slowly - burp often • ESSR technique – Enlarged nipple opening, Stimulate suck, Swallow, Rest • May use specialized feeder • May need gavage feedings • Have bulb syringe handy • Assess respiratory status continuously during feedings
Post opt Care • Often only NPO for 4 hours after repair • No milk for first feedings - adheres to sutures; Offer clear water after feeding to clean sutures • Older babies - no spoons or straws • Avoid crying (cuddle, provided analgesics) • Both pre-op and post-op: provide appropriate infant stimulation
Pierre Robin Syndrome • Triad of micrognathia (small mandible), cleft palate/high arched palate, and glossoptosis (tongue malpositioned downward) • May be associated with additional defects, therefore babies with cleft palate need to be assessed • Never place supine (side is best) • Mandibular distraction surgery • May require tracheostomy
History • 28yo G1P1 Mom brings her boy for evaluation to your clinic • CC = vomiting • 4 weeks old • Describes vomiting after almost every feeding of breast milk. Some spitting up began at 2 weeks, but now occurs almost every time. • Seems hungry and crying all the time
History • No coughing, fever or chills • Tummy is “gurgling” a lot • No diarrhea • Fm HX: Mom has scar on abdomen from some surgery when she was an infant
Physical Exam … • Afebrile, P = 160, RR = 24 • Weight up 2% from birth weight • Infant irritable and crying in Mom’s arms • RRR, pul = CTA; abd hyperactive BS • You observe a feeding: Vigorous feeder, but 5 minutes post feed you observe projectile vomiting that that is a bright green color
Case # 1 • Quite confident in your diagnosis you order an ultrasound that shows the following: • Pyloric thickness 3-4 mm • Pyloric length 15-19mm
Case # 1 • What is the most likely diagnosis? • What one piece of the presentation is inconsistent with this diagnosis?
Case # 1 • Let’s see what the lytes show! • NA =136 (low normal) K = 3.4 (slightly low) • Cl = 90 (low) HCO3 = 36(elevated) • Cr = 0.8 (normal) BUN = 12 (normal) • WHAT metabolic abnormality do these labs suggest?
Pyloric Stenosis • Occurs in 2-4/1000 births • More common in white children, first born male child and those with MATERNAL family history • Doesn’t begin until 2-8 weeks of age • Association with which medication ? • NON-BILLIOUS forceful or “projectile” vomiting gradually worsens • Can be associated with unconjugated hyperbilirubinemia known as icteropyloric syndrome
Pyloric Stenosis • Hypertrophic Pyloric Valve can be felt in the RUQ in about 50% of cases. • Feels like an “olive” • Ultrasound – 95 % sensitive • Barium studies – “ String Sign” and “Double track Sign” • These cases proceed to surgery directly • Ultrasound is nearly 100% sensitive and specific in skilled hands and it is the imagining study of choice where available. • Pyloric Stenosis is a Medical EMERGENCY! • Treatment - Pyloromyotomy , Ramstedt Procedure
Case # 2 History • 4 month-old infant presents for visit c/o frequent crying episodes lasting 3 hours at a time • Ongoing for 4 weeks and occurs 5 days per week. • Often starts in the afternoon, face turns red, fists clench, pulls knees to chest. • Tried switching to say formula and simethicone neither helped at all.
Case # 2 • Birth history is NSVD • Eating about 3oz formula 8x/day (24 ounces) • No fevers, rashes, vomiting, or colds • Seems like he needs to poop, but stool is soft
Physical Exam • Afebrile, P=140, RR=30, • Following 50% wt/age growth curve • Lungs CTA, heart RRR, abd +BS, soft, no masses • GU: nl male, circumcised
Case # 2 • What is the most likely diagnosis? • What one piece of information is inconsistent with the diagnosis?
Infantile Colic • Crying in an otherwise healthy infant >3hours/day; >3days/week x > 3 weeks • Starts around 2 weeks, peaks at 6 weeks and ends by 4 months • Incidence = 12-20% (80% of parents report their child had colic) • Afebrile and normal PE. Screen for weight loss. • Weak evidence to screen for UTI in infants with prolonged crying, no other studies indicated
Infantile Colic • Treatment is reassurance for parents. • Almost always resolves by 3 months • Avoid changing formulas as this may impart the perception that infant is “allergic” or ill in some way. • Consider hospitalization in cases where crying is so intractable infant is at risk for abuse.
Malrotations of Intestine • Incomplete rotation of intestine during fetal development • Presents usually in the 1st month of life(90% in the first year of life) • Bowel not fixed and can turn on mesentry - midgutvolvulus • Acute bilious emesis and distention
Malrotation • Often associated with abnormalities of abdominal wall diaphragmatic hernia , omphalocele , gastroschisis • Presents with signs of acute or chronic obstruction • Infants - bilious emesis , older infants – episodes of recurrent abdominal pain which mimics colic ( intermittent volvulus ) , malabsorption and protein loosing enteropathy due to bacterial overgrowth • Volvulus is life threating complication • Upper GI series , imaging of choice
Malrotations of Intestine • Sudden bilious emesis due to midgutvolvulus • Diagnosis: Upper GI series Bird beak sign • Surgical emergency • Ladd procedure • If found incidentally , correction recommended • -upper GI- small intestine not across midline
Case # 4 • 18 month-old male • Previously healthy • Presenting with colicky abdominal pain • H/o crying and bringing knees to chest • But he appears normal on your initial exam • Afebrile. RR = 28, P=130 • DO YOU THINK THIS IS COLIC?
Case # 4 • NO!!!! • Can you name 2 reasons why it’s unlikely? • Age >3 months • Acute rather than subacute presentation
Case # 4 • No ill contacts • Vomiting this morning x 3 • Light brown diarrhea x 2 • Still peeing normal amount but decreased appetite • Exam reveals no sign of dehydration, clear lungs and normal heart, slightly distended abdomen and hyperactive BS • What next?
Case # 4 • Send home with good warning signs? • Frequent vomiting, dehydration, lethargy, high fever, bloody stools and bilious vomiting • Admit to hospital?
Case # 4 • PO challenge? • Watched him drink and he soon started screaming • Now refusing all PO • RN reports more vomiting and loose BM ; she checked both for blood and they were both negative • More careful exam reveals a mass located in the right side of the abdomen • Preceptor suggested a contrast enema and admission to the hospital for observation • “So, what do you think might be going on?”
Case # 4 • What is the most likely diagnosis? • What one aspect of the case is inconsistent with the diagnosis?
Intussusception • One part of intestine telescopes in to the lumen of the adjoining bowel • Between 2 months and 5 yrs of age –peak incidence between 4 and 10 mo • Most originate in the ileocecal junction • Triad : abdominal pain, vomiting and bloody stools • History: • 20 minute cycles of intermittent pain, • vomiting • Heme positive stools (95% of the time.)
Intussusception • Exam: may present w/ sausage-shaped RUQ mass
Intussusception • Currant Jelly stool • (mix of mucus and blood) • seen in 16-60% of cases. • Guaiac Positive in 95 %
Intussusception - treatment • Contrast enema are 95% diagnostic • 60-80% therapeutic • CI: peritonitis, suspected perforation, shock
Intussusception - treatment • Air contrast enema –diagnostic procedure of choice • Peritonitis –absolute contraindication • Bowel obstruction-relative contraindication • Surgery indicated when: • Suspected performation • Necrotic bowel • Post reduction U/S or contrast study shows persistent filling defect
Intussusception -- Barium enema? • Thought to increase risk of perforation • so most use other contrast material or air.
MeckelDiverticulum • Vitelline ( Yolk sac )duct fails to be obliterated • Ectopic tissue -80% gastric origin and 5% pancreatic origin • Rules of 2’s • Most common cause of serious lower GI bleeding • Painless rectal bleeding • Associated with other congenital anomalies • Diagnosis by Meckel Scan /Technetium Scan (Labels the acid producing mucosa )
TE Atresia or Fistula • Tracheoesophagealatresia or fistula (TEF) • Occurs b/w 4-5 wks gestation • Esophagus may end in blind pouch before it connects with stomach or may have fistula with trachea (unnatural connection) • Five types on next slide • Etiology unknown • Incidence is 1:3000 live births and is often associated with other anomalies