PATHO2) W4b- Alterations in Digestion Function in Children

Cleft Lip/Cleft Palate

šSyndromic

šOccurs as part of chromosomal, mendelian, or teratogenic syndromes

šNon-syndromic

šCleft palate occurring alone

šEmbryonic developmental anomalies that vary in severity

šMay be caused by genetic or environmental influences

šGenetics, B vitamin/Folate deficiency, alcohol, tobacco use, statins, steroids

Cleft Lip Cause & Location

-incomplete fusion of the nasomedial process during fourth week of embryonic development

-Period of rapid development

- occurs under one nostril, bilateral , symmetric , asymmetric

Cleft Palate : Where and What

ass. W/ cleft lip but can occur without it

-May affect only the uvula and soft palate or may extend forward to the nostril and involve the hard palate and the maxillary alveolar ridge

CL & CP: clinical manif. & eval.

abnormal facial structure

Feeding difficulties- most significant

Cannot generate negative pressure for normal sucking

Evaluation and treatment

-Ultrasound and postnatal imaging

-Surgical correction

-Speech training

-Prosthodontist and orthodontist follow-up

Esophageal Atresia

- blind pouch

-tracheoesophageal fistulas

-Envi. and gen. risk factors

-Antenatal diagnosis = polyhydramnios, inability to pass gastric tube after birth

Signs: drooling, inability to swallow, respiratory distress

Tx: Place tube with suction

HOB elevated

no oral feedings to prevent aspiration

Infantile Hypertrophic Pyloric Stenosis

-Acquired narrowing and distal obstruction of the pylorus

-unknown etiology

-2-3 weeks after birth forceful vomiting with out bilirubin content immediately after feeding

-Vomiting → weight loss, electrolyte imbalances, and dehydration

Infant irritable bc of hunger + esophageal discomfort

Evaluation and treatment

-pylorus is palpable in the RUQ (Olive Sized)

-Tx: pyloromyotomy

-Oversized RUQ Vomiting

Intestinal Malrotation

normally ileum & cecum rotate to RLQ and are fixed by mesentery

-Small intestine lacks normal posterior attachment

-Intestine twists upon itself (volvulus)

- develops during neonatal period (<1year)

Cllinical Manif & Evaluation of Intestinal Malrotation

- bile-stained vomiting

-fluid and electrolyte imbalances

-Fever, pain, scanty stools, diarrhea, and bloody stools

Evaluation and treatment:

x-ray: Laparoscopic, or open surgery to reduce volvulus

Meckel Diverticulum

šOut pocketing of all layers of the small intestinal wall (usually in the ileum)

š“Rule of 2s”

šMost asymptomatic

šMost common symptom is painless rectal bleeding

šIntestinal obstruction, intussusception, and volvulus can occur

Rule of 2s for Meckel Diverticulum

Meconium Syndromes

šMeconium is a substance that fills the intestine before birth

šUsually passed within 12-48 hours after birth

Meconium Ileus

šMeconium-caused intestinal obstruction in a newborn

šDue to thick & sticky meconium 

šCan be Simple or Complex (medical emergency)

šMany complex cases occur with Cystic Fibrosis

šMeconium plug syndrome

Characterized by delayed passage of meconium (>24-48 hours) and intestinal dilatation

Distal intestinal obstruction syndrome

š

Characterized by complete or incomplete intestinal obstruction of viscid fecal accumulation in the terminal ileum and proximal colon

Pathophysiology of Meconium Syndromes

Terminal ileum plugged with thick, sticky meconium resulting from the formation of abnormal mucus

Peristalsis fails to propel this sticky material through the ileum, so it becomes impacted

Manifested by abdominal distention shortly after birth, followed by vomiting

Diagnosed by radiographic examination

Usually relieved by intestinal lavage and laxatives

Hirschsprung Disease
(congenital aganglionic megacolon)

šFunctional obstruction of the colon

šCharacterized by absence of parasympathetic nervous system intrinsic ganglion cells

šAbnormally innervated colon impairs fecal movements

šCauses colon obstruction and distention

CLinical Man and Eval Hirschspring Disease

Clinical manifestations:

-Mild to severe constipation

-Diarrhea

-Enterocolitis, sepsis, death

Surgery: is the definitive treatment

Gastroesophageal reflux vs. GERD

šGastroesophageal reflux

šPassage of gastric contents into esophagus separate from swallowing

šNormal and non pathologic in healthy infants

šGERD

šWhen reflux causes troublesome symptoms or complications

šCauses

šTransient lower esophageal sphincter relaxations

šInadequate adaptation of sphincter tone to changes in abdominal pressure

GERD CM & EVAL

Clinical manifestations:

šExcessive vomiting, food refusal, unexplained crying, choking, gagging

šComplications include esophagitis, hemorrhage, stricture, Barrett esophagus

Evaluation and treatment:

šOften diagnosed by clinical manifestations

šFeeding volume/frequency adjustment, Thickened feedings Medication, surgery, Dietary modifications (caffeine, chocolate, spicy foods)

Intussusception

-Telescoping of a proximal segment of intestine into a distal segment, causing an obstruction

-The most common scenario is the ileum telescopes into the cecum and part of the ascending colon by collapsing through the ileocecal valve

-Causes bleeding, necrosis, and bowel perforation if not treated

Intussusception CM & E

Clinical manifestations:

-Colicky Abdominal pain, irritability, vomiting, “currant jelly”stools, knees drawn into chest

Evaluation and treatment:

-Clinical manifestations and ultrasonography

-Reduction with enema

-Surgical reduction

Celiac Disease

-Autoimmune disease that damages small intestinal villous epithelium when gluten is ingested

-Gluten is the protein component in cereal grains (wheat, rye, barley, malt)

-The disease appears to be caused by dietary, genetic, and immunologic factors

Celiac Disease Onset and Severity/ Celiac Crisis

šOnset of manifestations depends on the age of the infant when gluten-containing substances are added to the diet

šSeverity of symptoms varies tremendously

šCeliac crisis

šSevere diarrhea, dehydration, & hypoproteinemia d/t malabsorption

šDiagnosis confirmed with serologic autoantibody measurement

šGluten-free diet for life

Malnutrition and Causes

•Imbalance between nutrient requirements and intake: •Impaired absorption

•Altered nutrient utilization

•Increased nutrient losses

•Increased nutrient requirements

Causes:

•Moderate to severe illnesses

•Lack of access to nutrients

•Behavioral factors

Protein energy malnutrition (PEM)

šTypes of malnutrition associated with long-term starvation

šKwashiorkor: deficiency in dietary protein

šMarasmus: all forms of inadequate nutrient intake

šManifestations

šMuscle wasting, diarrhea, dermatosis, low hemoglobin level, infection, generalized edema

šLoss of subcutaneous fat

šDelays in physical, behavioral, and cognitive development

Faltering Growth

šPreviously called failure to thrive (FTT)

šPhysical sign showing that a child has a slower rate of weight gain than expected

šDeceleration in weight gain

šLow weight/height ratio or BMI ratio

šLow weight/height/head circumference ratio

šMultifactorial

šBiologic

šPsychosocial

šEnvironmental

Necrotizing Enterocolitis

šIschemic, inflammatory condition that causes bowel necrosis and perforation

šNot a specific diagnosis, but a constellation of symptoms

šMost common severe neonatal gastrointestinal emergency

šPrimarily affects smallest and most premature infants

šEtiology unclear

Contributing Factors to Necrotizing Enterocolitis

šContributing factors

šInfections

šAbnormal bacterial colonization

šIntestinal ischemia

šImmature immunity

šExaggerated inflammatory responses

šImmature intestinal motility

šAltered microcirculatory blood flow and barrier function

šPerinatal stress

šEffects of medications and feeding practices

šGenetic predisposition

Necrotizing Enterocolitis: CM & E

šClinical manifestations

šFeeding intolerance. abdominal distention, & bloody stools.

šSepticemia with elevated WBCs& low platelets

šEvaluation and treatment

šClinical manifestations, laboratory results, and plain films of abdomen

šCessation of feeding, maintain fluids/electrolytes, gastric suction to decompress intestines, antibiotics to manage sepsis, and surgery

Primary Lactose Intolerance

šThe inability to digest lactose due to inadequate production of lactase (the enzyme that catabolizes lactose)

šMalabsorbed lactose causes

šOsmotic diarrhea

šAbdominal pain

šBloating

šFlatulence

Neonatal Jaundice

šYellow pigmentation of the skin caused by an increased level of bilirubin in the bloodstream

šUsually becomes clinically apparent when the serum bilirubin concentration is greater than 2 mg/dL

Physiologic Jaundice

-Common in healthy newborns

-improper bilirubin uptake and conjugation

-poor intake or dehydration

-Ass. With hemolytic disease, metabolic and endocrine disorders, liver abnormalities, infections

-Tx: phototherapy.

Pathologic Jaundice

šBilirubin concentration >20 mg/dl in newborn period

šAssociated with severe illness

šRisk factors include:

š Fetal-maternal blood type incompatibility, premature birth, exclusive breast feeding, maternal age >25 years, male sex, delayed meconium passage, glucose-6-phosphate dehydrogenase deficiency, and excessive birth trauma

šTreated with exchange transfusion and treatment of underlying cause

Biliary Atresia

šCongenital malformation characterized by the absence or obstruction of extrahepatic bile ducts leading to neonatal cholestasis

šCan lead to Biliary cirrhosis, Portal Hypertension, & Liver failure

šJaundice is the primary clinical manifestation

šFat absorption may be impaired

šLiver transplant long-term therapy

Metabolic Disorders

Wilsons, Galactosemia, Fructosemia

Early diagnosis is critical to:

šPrevent damage to organs

šProvide further genetic counseling

šMinimize complications

Wilson’s Disease

•Autosomal recessive defect of copper metabolism

•Causes toxic levels of copper to accumulate in the liver, brain, kidneys, and corneas

Galactosemia

•Autosomal recessive trait of deficient galactose-1-phosphate uridyl transferase

•Causes toxic levels of galactose in body tissues, liver, and brain

•Autosomal recessive trait of deficient fructose-1-phosphate aldolase

•Causes toxic levels of fructose to accumulate in body tissues

•Autosomal recessive trait of deficient fructose-1-phosphate aldolase

•Causes toxic levels of fructose to accumulate in body tissues