Daniel Hirsch, MD Director of Neonatology Somerset Medical Center Assistant Professor of Pediatrics UMDNJ RWJMS
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1 Daniel Hirsch, MD Director of Neonatology Somerset Medical Center Assistant Professor of Pediatrics UMDNJ RWJMS
2 Daniel Hirsch, MD Director of Neonatology Somerset Medical Center Assistant Professor of Pediatrics UMDNJ RWJMS
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4 Today s s Talk Case: Term newborn with vomiting & abdominal distension Normal stooling patterns Pathophysiology of Hirschsprung s Disease Signs of Hirschsprung s Differential diagnosis Diagnosis & management of Hirschsprung s Treatment of Hirschsprung s
5 Neonate with vomiting & abdominal distension Mom 25 y.o., primigravid Good prenatal care Normal level II US GBS positive ROM 6 hrs (clear fluid) No fever No meds given NSVD Apgar scores 8@1, 9@5
6 Neonate with vomiting & abdominal distension Normal phys 1 hr Exclusively nursing Passed 20 hrs Abd 30 hrs Vomiting x 1, non bilious Lethargic Temp 98.8 F Resp rate 76 Room air sat.s 98%
7 Neonate with vomiting & abdominal distension Initial management?
8 Initial Management CR monitor & pulse oximetry Complete physical exam BP Bedside glucose Place naso or oro gastric tube CBC w differential, lytes, ABG, blood culture Flat plate of abdomen, consider additional view for intraperitoneal air Immediate consultation with Pediatric surgeon Ampicillin & gentamicin and IV fluids
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12 Normal Stooling Patterns 95 99% healthy term newborns pass meconium by 24 hrs 100% pass meconium by 48 hrs Hirschsprung s Disease: 5% pass meconium by 24 hrs 40 50% pass meconium by 48 hrs
13 Stooling Patent GI tract GI smooth muscle Peptide Hormones GI hormones Enteric nervous system Nerve fibers Neurotransmitters & receptors Anal sphincters (internal & external)
14 Enteric Nervous System Most complex part of peripheral nervous system Derived from neural crest cells
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16 Enteric Nervous System Innervation of GI tract normally complete by 7 8 weeks gestation Neural crest cells must then proliferate, differentiate & migrate enteric nervous system Mature innervated GI tract by 14 weeks gestation
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20 Hirschsprung s s Disease Dr. Harald Hirschsprung Two children with megacolon, 1887 Dr. Tittel noted absence of ganglion cells in distal colon 1901
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22 Pathophysiology of Hirschsprung s Congenital absence of enteric ganglia (myenteric & submucosal plexuses), aganglionosis in variable segment of distal bowel Abnormal peristalsis & motility in aganglionic segment
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25 Pathophysiology of Hirschsprung s Intrinsic malfunction of intestinal tract ** Intestinal obstruction **
26 Histopathology
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28 Hirschsprung s s Disease 80% of cases aganglionosis of rectosigmoid region short segment 20% of cases also involves colon and even small intestine Rare aganglionosis may be near total
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30 Epidemiology of Hirschsprung s Incidence: 1 in 5000 Males > Females Long segment: 2 : 1, autosomal dominant Short segment: 4 : 1, autosomal recessive Genetically determined? Risk of recurrence in siblings 3 4% ( 200 times) Other anomalies in 5 35% of cases Sporadic cases: 80%
31 Why does Hirschsprung s s occur? Two theories 1. Neural crest cells differentiate prematurely 2. Neural crest cells reach their destination but fail to survive
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34 Signs of Hirschsprung s s Dz In FT newborn: Failure to pass meconium in first 24hrs Abdominal distension Vomiting (+/ bilious) Poor feeding Lethargy Irritability Diarrhea Fever
35 Differential Diagnosis Functional obstruction vs. Mechanical obstruction
36 Differential Diagnosis Intestinal malrotation ** Necrotizing enterocolitis ** Sepsis (non GI etiology)
37 Differential Diagnosis Left microcolon Meconium plug syndrome Meconium ileus +/ cystic fibrosis Intestinal atresia Enterocolitis Anal atresia Abdominal mass Hypokalemia Hypermagnesemia Hypothyroidism Maternal opiates
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39 Meconium Plug Syndrome
40 Diagnosis & Management ** Timely & expeditious ** Serial & thorough assessments ** Vitals Accurate I & O s NPO & IV fluids (** may need extra fluids **) Gavage tube +/ decompression Plain film of abdomen Consider additional view(s) intraperitoneal air
41 Diagnosis & Management Pediatric surgical consultation ** CBC with manual diff, blood culture, electrolyte panel, LFTs Urine culture? CSF evaluation & culture? Contrast enema Rectal (suction) biopsy definitive Genetic consultation if other anomalies present
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44 *Rectal Biopsy * Size of specimen: diameter= 2 3 mm Depth= 1 mm Absence of ganglion cells (myenteric & submucosal plexuses) ** Ideal specimen not always obtained Ancillary criteria may be used: Large submucosal fibers Acetycholinesterase staining
45 Histopathology
46 Treatment Resection of aganglionic segment Specific procedure dependent upon length of aganglionic segment Short segment (rectosigmoid): Soave endorectal pull through Longer segment (proximal to rectosigmoid) Transabdominal & perineal procedure +/ colostomy above aganglionic segment
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50 Treatment Intestinal transplantation? Enteric nervous system (ENS) stem cell transplantation?
51 Wrap Up Differential diagnosis *Consider potential life threatening diagnoses* Serial & thorough assessments Prompt pediatric surgical consultation Diagnosis depends on biopsy: no ganglia in myenteric & submucosal plexuses risk in subsequent children (genetic?)
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