Baby Basics - Common Concerns of the Infant Years Jennifer W. Swoyer, DO

Transcription

1 Baby Basics - Common Concerns of the Infant Years Jennifer W. Swoyer, DO

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3 Baby Basics- Common Health Concerns of the Infant Years Jennifer W. Swoyer, DO Photos posted by permission of Danielle Campbell, DO Overview Cases representative of common health concerns of the neonate and infant Diagnosis Pathophysiology Management Answer boards style question **Key words/clues in bold throughout** Case #1 You are reviewing the lab work of a neonate at 24 hours of life. The total serum bilirubin is 15 mg/dl with a direct bilirubin of 0.2 mg/dl. The child was born at 40 weeks gestation with apgars of 9/9 and is doing well. On exam the child s sclera, face, and chest appear yellow and there is a one centimeter cephalohematoma on the R parietal region. The child is being exclusively breast fed and is feeding well. What is the appropriate management for this child? 1

4 Neonatal Jaundice Caused by: increased bilirubin production decreased bilirubin clearance increased enterohepatic circulation of bilirubin Kernicterus Term used to describe the chronic and permanent sequela of bilirubin toxicity Severe hyperbilirubinemia- TB >25 to 30 mg/dl At this level unconjugated bilirubin can cross the blood-brain barrier and cause cell death Hyperbilirubinemia Defined as TB >95th percentile on the hourspecific Bhutani nomogram in infants 35 weeks gestation Treatment Options Phototherapy Intensive Home Sunlight Exchange Transfusion IVIG, Phenobarb, Ursodeoxycholic acid, Metalloporphyrins 2

5 Risk Factors for the Development of Severe Hyperbilirubinemia Pre-discharge TB >95th percentile for age Jaundice within the first 24 hours of life Cephalohematoma or significant bruising from birth trauma Exclusive breastfeeding nursing is not going well and weight loss is excessive (>12 percent of birth weight) Hemolytic disease Gestational age 35 to 36 weeks or less Previous sibling who received phototherapy East Asian race Albumin < 3 g/dl 3

6 Indications for Phototherapy For infants at low risk ( 38 weeks gestation and without risk factors), intensive phototherapy is started at the following TB values: 24 hours of age: >12 mg/dl 48 hours of age: >15 mg/dl 72 hours of age: >18 mg/dl Infants in this category who have TB levels 2 to 3 mg/dl below the recommended levels may be treated with fiber optic or conventional phototherapy at home Indications for Phototherapy For infants at medium risk ( 38 weeks gestation with risk factors or 35 to 38 weeks gestation without risk factors), intensive phototherapy is started at the following TB values: 24 hours of age: >10 mg/dl 48 hours of age: >13 mg/dl 72 hours of age: >15 mg/dl The threshold for intervention may be lowered for infants closer to 35 weeks and raised for those closer to 37 6/7 weeks. Indications for Phototherapy For infants at high risk (35 to 38 weeks gestation with risk factors), phototherapy is initiated at the following TB values: 24 hours of age: > 8 mg/dl 48 hours of age: >11 mg/dl 72 hours of age: >13.5 mg/dl 4

7 Red Flag JAUNDICE IN THE FIRST 24 HOURS OF LIFE! Most likely due to hemolysis and will most likely need phototherapy or other interventions 5

8 Case #1 You are reviewing the lab work of a neonate at 24 hours of life. The total serum bilirubin is 15 mg/dl with a direct bilirubin of 0.2 mg/dl. The child was born at 40 weeks gestation with apgars of 9/9 and is doing well. On exam the child s sclera, face, and chest appear yellow and there is a one centimeter cephalohematoma on the R parietal region. What is the appropriate management for this child? Answer Choices A. IVIG B. initiate phototherapy C. exchange transfusion D. re-check TB in 48 hours E. do nothing Answer Choices A. IVIG B. initiate phototherapy C. exchange transfusion D. re-check TB in 48 hours E. do nothing 6

9 Case #2 During a well baby exam on a six month old infant that is new to your practice you assess for the red reflex. You are unable to illicit a red reflex in the infant s L eye and the reflex actually seems to be white. What is your initial step in management? Leukocoria Differential Retinoblastoma- 47 percent of cases in one series Persistent fetal vasculature Retinopathy of prematurity Cataract Coloboma (fissure or cleft) of choroid or optic disc Uveitis Toxocariasis Coats' disease Vitreous hemorrhage Retinal dysplasia 7

10 Retinoblastoma most common intraocular malignancy of childhood approximately 300 new cases per year usually diagnosed in children < 2 y/o sporadic and heritable forms If bilateral then always inherited Unilateral is usually sporadic Pathophysiology mutational inactivation of both alleles of the retinoblastoma (RB1) gene untreated retinoblastoma grows to fill the eye and destroys the internal architecture of the globe metastasizes after six months death occurs within years Case #2 During a well baby exam on a six month old infant that is new to your practice you assess for the red reflex. You are unable to illicit a red reflex in the infant s L eye and the reflex actually seems to be white. What is your initial step in management? 8

11 Answer Choices A. re check at 9 month well check B. dilate the eye in the office to better assess the retina C. send for ophthalmology evaluation D. start antibiotic drops and re check in one week E. do nothing Answer Choices A. re check at 9 month well check B. dilate the eye in the office to better assess the retina C. send for ophthalmology evaluation D. start antibiotic drops and re check in one week E. do nothing Case #3 At a routine two week well check you are examining an otherwise healthy full term female and notice a +Galeazzi test on the R and feel a clunk of entry with the Ortolani maneuver on the R. What is your first step in management? 9

12 Developmental Dysplasia of the Hip Developmental dysplasia of the hip (DDH) abnormal development of the hip with respect to instability of the hip joint and dysplasia of the acetabulum Pathophysiology Ligamentous laxity predisposes the developing hip to mechanical forces that cause the femoral head to move outside of the acetabulum (dislocation) dysplasia appears to be the result of dislocation Risk Factors Female predominate- 4:1 F:M Breech positioning Family history of DDH Limited fetal mobility oligohydramnios firstborn infants 10

13 Screening Guidelines USPSTF evidence is insufficient to recommend routine screening for DDH as a means to prevent adverse outcomes newborn screening leads to over diagnosis of hips that do not benefit and may be harmed by treatment Screening Guidelines Pediatric Orthopaedic Society of North America (POSNA) Responds to USPSTF by pointing to the value of early diagnosis Recommends following the AAP Clinical Practice Guidelines assessment for DDH at every well-child visit until the child is walking normally Physical Exam Findings Asymmetry Apparent shortening of one femur + Galeazzi test Asymmetry of inguinal, thigh, or gluteal skin folds gait asymmetry Hip instability + Ortolani and Barlow maneuvers > 3 mos old: limitation of abduction (<45º) is the most reliable sign of DDH 11

14 Barlow Ortolani 12

15 Appropriate Management Definite signs of instability two weeks: directly to orthopedics without imaging > two weeks: age specific imaging or ortho AAP recommends US < 3 mos and XR > 3 mos Subtle or nonspecific findings Newborn: re-examine in two weeks Two-weeks old: re-examine in two weeks or US or refer to ortho > two weeks: age specific imaging Case #3 At a routine two week well check you are examining an otherwise healthy full term female and notice a +Galeazzi test on the R and feel a clunk of entry with the Ortolani maneuver on the R. What is your first step in management? Answer Options A. refer to ortho B. CT R hip C. US L hip D. Xray R hip E. Xray L hip 13

16 Answer Options A. refer to ortho B. CT R hip C. US L hip D. Xray R hip E. Xray L hip Case #4 You receive a call from a worried mom about her 4 month old son vomiting after feeds. The patient is exclusively breastfed and mom reports he spits up approximately one ounce of non-bloody, non-bilious vomitus after each feed. The infant is at the 50 th percentile for both height and weight, which has been consistent since birth. He is not excessively irritable, and has no other complaints or medical problems. What is the most appropriate treatment at this point? GERD Extremely common in healthy infants gastric fluids reflux into the esophagus 30 or more times daily normally Often results in regurgitation into the oral cavity Frequency decreases with increasing age Very uncommon in children > 18 mos 14

17 GERD- Diagnostic Approach Uncomplicated Good weight gain feeds well not unusually irritable happy spitter Complicated Failure to thrive GI blood loss Recurrent PNA Warning Signs Bilious vomiting GI bleeding: hematemesis, hematochezia Consistently forceful vomiting Onset of vomiting after six months of life Constipation, Diarrhea Abdominal tenderness, distension Hepatosplenomegaly Bulging fontanelle Macro/microcephaly Seizures Genetic disorders (eg, Trisomy 21) Other chronic disorders (eg, HIV) Fever, Lethargy, Failure to thrive Uncomplicated GERD happy spitter Warning signs of complication absent No intervention is required If the reflux is causing significant adverse effects on quality of life trial of a milk-free diet thickening of feeds Acid suppression and prokinetic agents not valuable in treating children < 1 y/o with uncomplicated GERD Trial only if above measures fail and QOL an issue 15

18 Indications for Pharmacotherapy Esophagitis documented by endoscopic biopsies PPI most effective Eosinophilic esophagitis PPI + leukotriene inhibitor Case #4 You receive a call from a worried mom about her 4 month old son vomiting after feeds. The patient is exclusively breastfed and mom reports he spits up approximately one ounce of non-bloody, non-bilious vomitus after each feed. The infant is at the 50 th percentile for both height and weight, which has been consistent since birth, he is not excessively irritable, and has no other complaints or medical problems. What is the most appropriate treatment at this point? Answer Choices A. Stop breastfeeding and start soy formula immediately B. Order an upper GI series C. Reassure and follow D. Refer to GI E. Start PPI 16

19 Answer A. Stop breastfeeding and start soy formula immediately B. Order an upper GI series C. Reassure and follow D. Refer to GI E. Start PPI Case #5 You are evaluating a 3 week old male neonate in the office due to slow weight gain and vomiting. He has not yet reached birth weight. Mom says she is feeding him every one to two hours, but he vomits after each feeding and is still hungry afterwards. The vomitus is non-bloody and non-bilious. Mom describes the episodes of vomiting to be projectile. On exam you can palpate a small mass in the RUQ. What is the most appropriate treatment for this child? Pyloric Stenosis Hypertrophy of the pylorus eventually progressing to near-complete obstruction of the gastric outlet Male predominant- M:F = 4:1 to 6:1 Peak incidence of dx: 3-5 weeks of age 30% occur in firstborn children 17

20 Pyloric Stenosis Etiology Unknown May have a genetic predisposition Classic presentation 3- to 6-week-old male baby immediate postprandial, non-bilious, often projectile vomiting demands to be re-fed soon afterwards "hungry vomiter" Plyoric Stenosis Physical exam findings emaciated and dehydrated palpable "olive-like" mass at the lateral edge of the rectus abdominus in the RUQ Lab findings hypochloremic metabolic alkalosis hypokalemia may develop after 3 weeks of vomiting Pyloric Stenosis Diagnosis US vs upper GI Recommendation of which modality to chose varies from center to center and case to case Treatment Definitive treatment for pyloric stenosis is surgery Pyloromyotomy 18

21 Case #5 You are evaluating a 3 week old male neonate in the office due to slow weight gain and vomiting. He has not yet reached birth weight. Mom says she is feeding him every one to two hours, but he vomits after each feeding and is still hungry afterwards. The vomitus is non-bloody and non-bilious. Mom describes the episodes of vomiting to be projectile. On exam you can palpate a small mass in the RUQ. What is the most appropriate treatment for this child? Answer Choices A. increase frequency of feeds and decrease amount of each feed B. fundoplication C. start PPI D. re evaluate in two weeks E. pyloromyotomy Answer Choices A. increase frequency of feeds and decrease amount of each feed B. fundoplication C. start PPI D. re evaluate in two weeks E. pyloromyotomy 19

22 Case #6 A two year old male without significant past medical history taking no medications presents to your office c/o abdominal pain which began three hours ago. Pain is described as intermittent and crampy. Episodes are becoming more frequent and the patient tends to pull his legs up to his chest during the episodes. No n/v/d but his last stool did have some blood and mucous in it. On exam vital signs are stable, the abdomen is soft, mildly distended, and without peritoneal signs. You notice a sausage shaped mass on palpation of the RLQ. What is your diagnosis and treatment? Intussusception Invagination of a part of the intestine into itself Most common abdominal emergency in early childhood particularly in children younger than two years of age Most common cause of intestinal obstruction in infants between 6 and 36 months of age 60% before one y/o 80% before two y/o Male predominant- M:F = 3:2 Intussusception Occurs most often near the ileocecal junction Proximal segment of bowel, telescopes into a distal segment dragging the associated mesentery with it Leads to intestinal edema Can ultimately lead to ischemia, perforation, and peritonitis Etiology- most cases thought to be idiopathic but some increased incidence post-viral illness 20

23 Intussusception Concept of lead point lesion or variation in the intestine that is trapped by peristalsis and dragged into a distal segment of the intestine meckel diverticulum polyp tumor hematoma- HSP vascular malformation thick inspisssated stool- CF Must be vigilant for pathological lead points Intussusception Presentation sudden onset- intermittent, severe, crampy, progressive abdominal pain inconsolable crying drawing up of the legs toward the abdomen Episodes occur at minute intervals Become more frequent Vomiting may follow episode Pain free between episodes Intussusception Physical Exam +/- abdominal distention sausage-shaped abdominal mass may be felt in the right side of the abdomen Stool contains blood (70%) and sometimes mucous Resembles currant jelly 21

24 Intussusception Classic triad Abdominal pain Sausage-shaped palpable mass Currant jelly stool Only seen in 15% of patients at presentation, so high index of suspicion necessary Intussusception Patients with classic presentation and no suspicion for perforation may proceed directly to contrast enema for dx and tx If diagnosis in question: Radiological studies US- modality of choice in most institutions Approaches 100% sensitivity/specificity Will see a bull's eye" or "coiled spring" lesion Plain film Less sensitive/specific than US signs of intestinal obstruction target sign- two concentric radiolucent circles superimposed on the right kidney crescent sign- soft tissue density projecting into the gas of the large bowel 22

25 Intussusception Treatment No perforation Nonoperative reduction using hydrostatic or pneumatic pressure by enema Water soluble contrast enema under fluoroscopic guidance Perforation suspected Laparotomy Recurrence recurs in approximately 10 percent of children after successful nonoperative reduction Should prompt search for pathological lead point 23

26 Case #6 A two year old male without significant past medical history taking no medications presents to your office c/o abdominal pain which began three hours ago. Pain is described as intermittent and crampy. Episodes are becoming closer together and the patient tends to pull his legs up to his chest during the episodes. No n/v/d but his last stool did have some blood and mucous in it. On exam vital signs are stable, the abdomen is soft, mildly distended, and without peritoneal signs. You notice a sausage shaped mass on palpation of the RLQ. What is your diagnosis and treatment? Answer Choices A. Mekels Diverticulum- watchful waiting B. Intussusception- laparotomy C. Mekels Diverticulum- laparatomy D. Intussusception- contrast enema E. Volvulus- laparotomy Answer Choices A. Mekels Diverticulum- watchful waiting B. Intussusception- laparotomy C. Mekels Diverticulum- laparatomy D. Intussusception- contrast enema E. Volvulus- laparotomy 24

27 Questions??? References Hay, Current Diagnosis and Treatment: Pediatrics, 19 th edition, 2009 Le, First Aid for the Family Medicine Boards, 2008 Rakel, Textbook of Family Medicine, 8 th edition, 2011 Sotirios, Transcutaneous Bilirubin Levels for the First 120 Postnatal Hours in Healthy Neonates, Pedaitrics, Vol. 125 No. 1, 1/1/2010. Waickus, Family Medicine Board Review, 4 th edition,