PAINE #PANCE Pearl – Emergency Medicine



Question

You are winding down your 8a-8p shift in the fast track section of your emergency department when a 19-month girl is brought in my her father after falling out of a shopping cart at Home Depot at around 7:15pm. Her father saw her fall and couldn’t catch her before she hit the ground. She immediately began crying and her father denies any loss of consciousness or vomiting. She cried for approximately 30 minutes and her father started to worry that she is now “sleepy”. Other than the sleepiness, her behavior has been normal per her father.

Physical examination does not reveal any periorbital or posterior auricular ecchymosis and there is no hemotympanum. There are no other abrasions or ecchymosis present and her eyes are open and she can track your movements. There is no palpable depressions or crepitus on the skull. She is moving all extremities, reaching for her toys, and saying “Daddy” towards her father.

  1. Does this child need further imaging?
  2. What studies are available to help make this decision?

#52 – Pyloric Stenosis



***LISTEN TO THE PODCAST HERE***



Epidemiology

  • 2-4 per 1000 live births worldwide and 20 per 10,000 live births in the US
  • Higher male to female ratio (4-6:1)
  • Higher incidence (1.5x) in first-born children
  • Highest incidence in caucasian infants
  • Less common in infants of older mothers

Risk Factors and Etiology

The exact mechanisms and etiologies are unclear, but it is hypothesized that it is multifactorial and is a result of both genetic predisposition and environmental triggers.

  • Environmental Factors
    • Maternal smoking (up to 2x increased risk)
    • Bottle feeding
      • Bottle feeding during first 4 months increased risk by 4x
        • Didn’t delineate formula vs breastmilk
  • Genetic Factors
    • Reports of familial aggregation, but there is no clear research association
    • Apolipoprotein A1 (APOA1) gene cluster
      • Hypothesized low plasma cholesterol at birth and increased risk
  • Macrolide Antibiotics
    • Increased risk if given to infants < 2 weeks old
      • Treatment/prophylaxis for pertussis
    • Association with maternal use during first two weeks of life
  • Icteropyloric syndrome
    • Unconjugated hyperbilirubinemia
      • Most commonly from early Gilbert’s Syndrome

History and Physical Examination

  • Class presentation for PANCE
    • < 6 week old with post-prandial, non-bilious projectile vomiting around 10 minutes after cessation of feeding
    • Ravenous feeder even after vomiting
  • May be emaciated and/or dehydrated
    • Though we are diagnosing earlier and infants tend to be healthier
  • Palpable mass in the epigastrium (50-90%)
    • This is also less commonly seen due to healthier infants and ease of obtaining radiologic students
      • 73% in the 1970s to only 30% now
    • Ideally, immediately after vomiting and while the infant is calm
  • Other important assessments
    • Height/weight
    • Mucous membranes and skin turgor
    • Skin and sclerae
    • Genitalia
      • Ambiguous genitalia raises suspicion for congenital adrenal hyperplasia and adrenal crisis

Diagnostic Studies

  • Laboratory
    • Hypochloremic metabolic alkalosis
      • 88% PPV if pH > 7.45, chloride < 98, and base excess > +3
    • Assess for dehydration
      • BUN/creatinine > 20:1
    • Liver Function Tests
      • Bilirubin breakdown, AST/ALT, GGT, and ALP
  • Radiography
    • Ultrasound is the test of choice
      • Accuracy is operator dependent, but can reach > 95% sensitivity/specificity
      • “Target” sign on transverse view
      • Normal Measurements (vary with age and used together)
        • Pyloric Muscle Thickness
          • < 3mm
        • Pyloric Muscle Length
          • < 14mm
        • Pyloric Channel Length
          • < 16mm
Target Sign on Transverse View
  • Fluoroscopic Upper Gastrointestinal Series
    • Used if ultrasound is nondiagnostic
    • Classic findings :
      • “string” sign from an elongated pyloric canal
      • “double-track” sign from two thin tracks of barium along the pyloric canal created by compressed pyloric mucosa
      • “beak”sign from a tapered point at the pyloric ending
      • “shoulder” sign from a prepyloric bulge of barium
1) Beak Sign, 2) String Sign, 3) Double Track Sign, 4) Shoulder Sign

Differential Diagnosis

Although pyloric stenosis has a classic presentation, you must entertain the other important causes of vomiting in infancy.


Treatment

  • Definitive management is surgery
  • Timing of surgery depends on the clinical status of the infant
    • If healthy, surgery can be performed on the day of diagnosis
    • If ill, then resuscitation and feeding need to be performed to limit perioperative complications.
  • Technique
    • Ramstedt Pyloromyotomy
      • Longitudinal incision of the pylorus with blunt dissection down to the submucosa
  • Open vs Laparoscopic
    • No difference in operating time, time to full feeding, or length of stay
    • Laparoscopic had lower incidence of emesis and better pain control, but higher incidence of incomplete surgical release
  • Postoperative Management
    • Feeding
      • Resumed within a few hours after surgery
      • Regurgitation is common, but should not delay/stop feedings
    • Breathing
      • Monitor for apnea at least for 24 hours
    • Complications
      • Mucosal perforation (rare)

Follow-Up

  • Surgery is curative in the majority of patients
  • Once normal feeds occur, only routine pediatric care and follow-up is needed
  • Reflux is common and managed conservatively

The Cottage Physician (1893)



References

  1. Kapoor R, Kancherla V, Cao Y, et al. Prevalence and descriptive epidemiology of infantile hypertrophic pyloric stenosis in the United States: A multistate, population-based retrospective study, 1999-2010. Birth defects research. 2019; 111(3):159-169. [pubmed]
  2. To T, Wajja A, Wales PW, Langer JC. Population demographic indicators associated with incidence of pyloric stenosis. Archives of pediatrics & adolescent medicine. 2005; 159(6):520-5. [pubmed]
  3. Krogh C, Fischer TK, Skotte L, et al. Familial aggregation and heritability of pyloric stenosis. JAMA. 2010; 303(23):2393-9. [pubmed]
  4. Krogh C, Gørtz S, Wohlfahrt J, Biggar RJ, Melbye M, Fischer TK. Pre- and perinatal risk factors for pyloric stenosis and their influence on the male predominance. American journal of epidemiology. 2012; 176(1):24-31. [pubmed]
  5. Svenningsson A, Svensson T, Akre O, Nordenskjöld A. Maternal and pregnancy characteristics and risk of infantile hypertrophic pyloric stenosis. Journal of pediatric surgery. 2014; 49(8):1226-31. [pubmed]
  6. Zhu J, Zhu T, Lin Z, Qu Y, Mu D. Perinatal risk factors for infantile hypertrophic pyloric stenosis: A meta-analysis. Journal of pediatric surgery. 2017; 52(9):1389-1397. [pubmed]
  7. McAteer JP, Ledbetter DJ, Goldin AB. Role of bottle feeding in the etiology of hypertrophic pyloric stenosis. JAMA pediatrics. 2013; 167(12):1143-9. [pubmed]
  8. Sørensen HT, Nørgård B, Pedersen L, Larsen H, Johnsen SP. Maternal smoking and risk of hypertrophic infantile pyloric stenosis: 10 year population based cohort study. BMJ (Clinical research ed.). 2002; 325(7371):1011-2. [pubmed]
  9. Feenstra B, Geller F, Carstensen L, et al. Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis. JAMA. 2013; 310(7):714-21. [pubmed]
  10. Eberly MD, Eide MB, Thompson JL, Nylund CM. Azithromycin in early infancy and pyloric stenosis. Pediatrics. 2015; 135(3):483-8. [pubmed]
  11. Honein MA, Paulozzi LJ, Himelright IM, et al. Infantile hypertrophic pyloric stenosis after pertussis prophylaxis with erythromcyin: a case review and cohort study. Lancet (London, England). ; 354(9196):2101-5. [pubmed]
  12. Lund M, Pasternak B, Davidsen RB, et al. Use of macrolides in mother and child and risk of infantile hypertrophic pyloric stenosis: nationwide cohort study. BMJ (Clinical research ed.). 2014; 348:g1908. [pubmed]
  13. Touloukian RJ, Higgins E. The spectrum of serum electrolytes in hypertrophic pyloric stenosis. Journal of pediatric surgery. 1983; 18(4):394-7. [pubmed]
  14. Bakal U, Sarac M, Aydin M, Tartar T, Kazez A. Recent changes in the features of hypertrophic pyloric stenosis. Pediatrics international : official journal of the Japan Pediatric Society. 2016; 58(5):369-71. [pubmed]
  15. Sivitz AB, Tejani C, Cohen SG. Evaluation of hypertrophic pyloric stenosis by pediatric emergency physician sonography. Academic emergency medicine : official journal of the Society for Academic Emergency Medicine. 2013; 20(7):646-51. [pubmed]
  16. Niedzielski J, Kobielski A, Sokal J, Krakós M. Accuracy of sonographic criteria in the decision for surgical treatment in infantile hypertrophic pyloric stenosis. Archives of medical science : AMS. 2011; 7(3):508-11. [pubmed]
  17. Hernanz-Schulman M. Pyloric stenosis: role of imaging. Pediatric radiology. 2009; 39 Suppl 2:S134-9. [pubmed]
  18. Said M, Shaul DB, Fujimoto M, Radner G, Sydorak RM, Applebaum H. Ultrasound measurements in hypertrophic pyloric stenosis: don’t let the numbers fool you. The Permanente journal. 2012; 16(3):25-7. [pubmed]
  19. Iqbal CW, Rivard DC, Mortellaro VE, Sharp SW, St Peter SD. Evaluation of ultrasonographic parameters in the diagnosis of pyloric stenosis relative to patient age and size. Journal of pediatric surgery. 2012; 47(8):1542-7. [pubmed]
  20. St Peter SD, Holcomb GW, Calkins CM, et al. Open versus laparoscopic pyloromyotomy for pyloric stenosis: a prospective, randomized trial. Annals of surgery. 2006; 244(3):363-70. [pubmed]
  21. Hall NJ, Pacilli M, Eaton S, et al. Recovery after open versus laparoscopic pyloromyotomy for pyloric stenosis: a double-blind multicentre randomised controlled trial. Lancet (London, England). 2009; 373(9661):390-8. [pubmed]

PAINE #PANCE Pearl – Pediatrics



Question

A 3-week old baby girl is sent to your emergency department after being seen by their pediatrician for irritability, poor feeding, and a seizure just prior to arrival at the pediatrician’s office. Vital signs are BP-103/73, HR-137, RR-25, O2-100% on room air, and Temp-39.2oC (102.5oF). Physical examination reveals a lethargic infant with decreased motor tone and a full, bulging frontal fontanelle. What is the most important diagnostic study to obtain and what is the empiric treatment of choice while awaiting results?



Answer

  1. A full or bulging fontenelle is suggestive of meningeal edema and swelling are concerning for meningitis. Couple this with the lethargy and poor motor tone and this infant bought herself a lumbar puncture.
  2. Now….because of her age (<30 days old), you have to cover for a specific set of pathogens due to a developing immune system. Classically, neonatal sepsis bugs include group B streptococcus (GBS), Escherichia coli, and Listeria monocytogenes. Empiric antibiotic coverage (until gram stain results) is:
    1. Ampicilin (GBS)
    2. Gentamycin (gram negative coverage)
    3. Cefotaxime (wider gram negative coverage)
2004 – IDSA Guidelines

Ep-PAINE-nym



Osgood-Schlatter Disease

Other Known Aliases – tibial tubercle apophysitis

Definitiontraction apophysitis of the proximal tibial tubercle at the insertion of the patellar tendon.

Clinical SignificanceMost commonly occurs in adolescents as a result of overuse stress in athletics requiring explosive running, jumping, or cutting. This places an extreme amount of stress on the tibial tubercle and may lead to a chronic avulsion. As the new healing callous is laid down, a pronounced deformity may develop.

HistoryNamed after two physician who contemporaneously published on this condition in the same year. Robert Bayley Osgood (1873-1956), was an American orthopaedic surgeon, and received his medical doctorate from Harvard University in 1899. Dr. Osgood spent his entire career practicing in Boston at Massachusetts General Hospital and teaching at the Harvard Medical School. Carl Schlatter (1863-1934), was a Swiss physician and surgeon, and received his medical doctorate from the University of Zurich in 1889. Dr. Schlatter was a skilled surgeon and had a primary interest in trauma and causality medicine during World War I. Both physicians were well respected educators and professors of their time and both published their findings of this condition in 1903.


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Up To Date. www.uptodate.com
  6. Osgood RB. Lesions of the tibia tubercle occurring during adolescence.
    Boston Medical and Surgical Journal. 1903;148: 114-117. [article]
  7. Schlatter CB. Verletzungen des schnabelförmigen Forsatzes der oberen Tibiaepiphyse. Beiträge zur klinischen Chirurgie, 1903;38: 874-887. [article]

PAINE #PANCE Pearl – Pediatrics



Question

A 3-week old baby girl is sent to your emergency department after being seen by their pediatrician for irritability, poor feeding, and a seizure just prior to arrival at the pediatrician’s office. Vital signs are BP-103/73, HR-137, RR-25, O2-100% on room air, and Temp-39.2oC (102.5oF). Physical examination reveals a lethargic infant with decreased motor tone and a full, bulging frontal fontanelle. What is the most important diagnostic study to obtain and what is the empiric treatment of choice while awaiting results?

Ep-PAINE-nym



Hirschprung Disease

Other Known Aliasescongenital aganglionic megacolon, congenital intestinal aganglionosis

Definitionmotor disorder of the intestines due to failure of the neural crest cells, which are precursors of ganglion cells) to fully migrate during embryonic development of the colon.

Clinical SignificanceAs a result of this aganglionosis of the colon, the distal intestines are unable to relax and cause a functional obstruction. Children affected by this condition fail to pass their meconium stool in the first 48 hours of life and may have abdominal distention, bilous emesis, and/or enterocolitis. Diagnosis is made with contrast enema and suction rectal biopsy.

HistoryNamed after Harald Hirschprung (1830-1916), who was a Danish physician and received his medical doctorate from the University of Copenhagen in 1855. In 1870, he became the first Danish pediatrician and was appointed chief physician of Queen Louisa Hospital for Children in 1879. He presented his eponymous findings at the Berlin Congress for Children’s Diseases in 1886 where he described two infants who had died from “constipation associated with dilation and hypertrophy of the colon”. He published his findings a year later in an article entitled “Stuhlträgheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons”. Other notable contributions of Dr. Hirschprung include being one of the first physicians to successfully reduce intussuception by pneumatic means and being an advocate for free health care for all children.


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Up To Date. www.uptodate.com
  6. Hirschsprung H. Stuhlträgheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons. [Constipation of newborns as a result of dilatation and hypertrophy of the colon] Jahrbuch für Kinderheilkunde und physische Erziehung 1888;27:1–7
  7. Hirschsprung H. Fälle von Angeborenen Pylorusstenose, Beobachtet bei Säuglingen. Jahrbuch für Kinderheilkunde und physische Erziehung 1888;27:61-8
  8. Lister J. Hirschsprung: the man and the disease. Journal of the Royal College of Surgeons of Edinburgh. 1977; 22(6):378-84. [pubmed]
  9. Skaba R. Historic milestones of Hirschsprung’s disease (commemorating the 90th anniversary of Professor Harald Hirschsprung’s death). Journal of pediatric surgery. 2007; 42(1):249-51. [pubmed]
  10. Roed-Petersen K, Erichsen G. The Danish pediatrician Harald Hirschsprung. Surgery, gynecology & obstetrics. 1988; 166(2):181-5. [pubmed]

#48 – Hirschsprung Disease



*** LISTEN TO THE PODCAST HERE ***



Pathophysiology

  • Motor gut disorder characterized by failure of the neural crest cells (which are precursors to the enteric ganglion cells) to fully migrate to the distal portions of the colon.
    • Most accepted theory is there is a defect in the craniocaudal migration of neuroblasts that occurs between 4-7 weeks gestation
      • 12 genetic mutations currently identified predominantly affecting the RET proto-oncogene
        • Produces a tyrosine kinase protein that transduces growth and differentiation signals in developing tissues
  • The absence of these cells in the mucosal and muscular layer of the colon results in the failure of the colonic muscles to relax.

Epidemiology

  • Occurs in 1:5000 live births
  • Male:Female ratio of 3-4:1
  • 80% of cases affect the rectosigmoid junction (termed short-segment disease)
  • 15-20% of cases extend to the proximal sigmoid colon (termed long-segment disease)
  • <5% of cases affect the entire colon

Associated Syndromes

  • Trisomy 21(up to 16% of cases)
  • Bardet-Biedi
  • Cartilage-hair hypoplasia
  • Congenital central hypoventilation syndrome
  • Familial dysautonomia
  • Multiple endocrine neoplasia type 2
  • Mowat-Wilson
  • Smith-Lemli-Opitz
  • Waardenburg

Associated Congenital Anomalies

Up to 25% of Hirschsprung patients have other congenital anomalies including:

  • Genitourinary (20-40%)
    • Hydronephrosis, renal agenesis
  • Visual/Hearing Impairment (5-40%)
    • Most are refractive errors
  • Congenital Heart Disease (50%)
    • Almost exclusively in syndromic Hirschsprung
  • Anorectal Malformations

Signs and Symptoms

  • Failure to pass meconium in first 48 hours
    • 100% of normal full-term infants pass meconium in first 48 hours in contrast to only 10-40% of infants with Hirschsprung
  • Abdominal distention
    • Squirt/Blast Sign
      • Explosive expulsion of gas and stool after digital rectal examination
  • Bilious emesis
  • Enterocolitis and volvulus are rare, life-threatening complications or presentations
  • Most are diagnosed in the neonatal period, but less-severe short-segment disease can present as late as 3 years old

Diagnostic Work-Up

  • Indications for testing include:
    • Symptoms of obstruction
    • Failure to pass meconium after 48 hours
    • Constipation and Trisomy 21 (or other associated syndrome)
    • Constipation and physical examination suggestive of Hirschsprung
  • If fever, lethargy, and/or obstipation are present, emergent evaluate for enterocolitis is needed
  • Studies
    • “Unprepped” contrast enema
      • Identification of transition zone
        • Change from normal caliber/narrowed rectum to dilated proximal colon
  • Anorectal manometry
    • Useful in ultrashort segment disease
    • Can approach 100% NPV is performed properly
    • Suction rectal biopsy
      • GOLD STANDARD for diagnosis
      • Location should be 2cm above the level of the dentate line
  • Histology findings
    • Presence of hypertrophic nerve fibers
    • Increased acetylcholinesterase activity or staining in the muscularis mucosae
    • Decreased or absent calretinin-immunoreactive fibers in the lamina propria
Abnormal acetylcholine esterase (AchE)-positive nerve fibers (brown) in the mucosa


Treatment

  • Surgery is the mainstay of treatment
    • Resect the affected segment
    • Bring the normal ganglionic bowel down to anus
    • Preserve internal sphincter function
  • Originally, this was an open, two-stage procedure with a diverting colostomy
    • To allow the dilated segement to decompress back to normal size
  • Now, it can be performed as a single-stage operation either laparoscopically or transanally
  • 3 types of Pull-Through Procedures
  • Complications
    • Anastomotic stricture, constipation, incontinence, or enterocolitis

The Cottage Physician (1893)

Chapter – Children and Their Diseases


References

  1. Hoffenberg EJ, Furuta GT, Kobak G, Walker T, Soden J, Kramer RE, Brumbaugh D. Gastrointestinal Tract. In: Hay, Jr. WW, Levin MJ, Deterding RR, Abzug MJ. eds. Current Diagnosis & Treatment: Pediatrics, 24e New York, NY: McGraw-Hill
  2. Badner JA, Sieber WK, Garver KL, Chakravarti A. A genetic study of Hirschsprung disease. American journal of human genetics. 1990; 46(3):568-80. [pubmed]
  3. Fu M, Tam PK, Sham MH, Lui VC. Embryonic development of the ganglion plexuses and the concentric layer structure of human gut: a topographical study. Anatomy and embryology. 2004; 208(1):33-41. [pubmed]
  4. Goldstein AM, Hofstra RM, Burns AJ. Building a brain in the gut: development of the enteric nervous system. Clinical genetics. 2013; 83(4):307-16. [pubmed]
  5. Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes and genetics: a review. Journal of medical genetics. 2008; 45(1):1-14. [pubmed]
  6. Pini Prato A, Rossi V, Mosconi M, et al. A prospective observational study of associated anomalies in Hirschsprung’s disease. Orphanet journal of rare diseases. 2013; 8:184. [pubmed]
  7. Sarioglu A, Tanyel FC, Büyükpamukçu N, Hiçsönmez A. Hirschsprung-associated congenital anomalies. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery … [et al] = Zeitschrift fur Kinderchirurgie. 1997; 7(6):331-7. [pubmed]
  8. Khan AR, Vujanic GM, Huddart S. The constipated child: how likely is Hirschsprung’s disease? Pediatric surgery international. 2003; 19(6):439-42. [pubmed]
  9. Arshad A, Powell C, Tighe MP. Hirschsprung’s disease. BMJ (Clinical research ed.). 2012; 345:e5521. [pubmed]
  10. Evaluation and treatment of constipation in infants and children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. Journal of pediatric gastroenterology and nutrition. 2006; 43(3):e1-13. [pubmed]
  11. Putnam LR, John SD, Greenfield SA, et al. The utility of the contrast enema in neonates with suspected Hirschsprung disease. Journal of pediatric surgery. 2015; 50(6):963-6. [pubmed]
  12. Meinds RJ, Trzpis M, Broens PMA. Anorectal Manometry May Reduce the Number of Rectal Suction Biopsy Procedures Needed to Diagnose Hirschsprung Disease. Journal of pediatric gastroenterology and nutrition. 2018; 67(3):322-327. [pubmed]
  13. Alizai NK, Batcup G, Dixon MF, Stringer MD. Rectal biopsy for Hirschsprung’s disease: what is the optimum method? Pediatric surgery international. 1998; 13(2-3):121-4. [pubmed]
  14. Hackam DJ, Grikscheit T, Wang K, Upperman JS, Ford HR. Pediatric Surgery. In: Brunicardi F, Andersen DK, Billiar TR, Dunn DL, Hunter JG, Matthews JB, Pollock RE. eds. Schwartz’s Principles of Surgery, 10e New York, NY: McGraw-Hill; 2015

PAINE #PANCE Pearl – Pediatrics



Question

You are consulted to see a 2-day old baby boy for failure to pass the first meconium stool and an episode of bilious emesis. He was 37-weeks gestation at the time of a normal spontaneous vaginal delivery without any complications. Physical examination reveals a distended abdomen and digital rectal exam results in an explosive expulsion of stool and gas. A contrast enema was ordered and is attached. What is the specific cause (not the diagnosis) of this infant’s condition and what is the next diagnostic step?



Answer

This infant has congenital aganglionic megacolon, or Hirschprung Disease. It is caused by the failure of the neural crest cells (precursors to enteric ganglion cells) to migrate completely during intestinal development in utero. This results in the failure of the colon to be able to relax and causes a functional obstruction.

Diagnosis is made with bedside suction rectal biopsy 2cm above the level of the dentate line. Confirmatory findings on histology are abnormal acetylcholine esterase-positive nerve fibers in the mucosa.

AchE-positive Nerve Fibers (brown)

Ep-PAINE-nym



Asperger Syndrome

Other Known AliasesHigh-functioning autism

DefinitionThis syndrome is part of the Autism Spectrum Disorder (ASD) classification in DSM-V, but still is a distinct entity in the WHO International Classification of Disease. It is characterized by persistent impairment in reciprocal social communication and social interaction with restricted, repetitive patterns of behavior, interests, or activities.

DSM-IV Diagnostic Criteria

Clinical SignificanceChildren diagnosed with Asperger syndrome, or high-functioning ASD, have varying degree of social and/or behavioral impairments. It is on the lower end of the ASD spectrum and these children often have normal to higher level of measured intelligence at school, but struggle with social interactions, following specific directions, and meeting deadlines, which then negatively impact their progression through school. Early identification by school and medical staff can mitigate these deficiencies and help these children flourish in their formative years.

HistoryNamed after Johann Friedrich Karl Asperger (1906-1980), who was an Austrian pediatrician and received his medical doctorate from the University of Vienna in 1931. He published extensively on behavioral disorders in children and termed the phrase “autistic psychopathy” in 1944 based on earlier work by Russian neurologist Grunya Sukhareva. His work garnered little contemporary acclaim and it wasn’t until Lorna Wing, an English researched, proposed the condition as Asperger’s syndrome in 1981. This caused a resurgence in translating Asperger’s work in the early 1990’s and inclusion in the DSM-IV in 1994. As a result of this increased fervor into his work, it was also discovered that Asperger was a eugenicist during the Nazi campaign, believed that “in the majority of the cases the positive aspects of autism do not outweigh the negative ones”, and even sent children from his center to the Spiegelgrund clinic, which participated in euthanasia program of the Nazi regime.

Personal Side NoteI have been struggling recently on whether to include eponyms that were named after individuals that achieved historical and medical notoriety through abhorrent means. I had originally planned NOT to give any of these individuals further recognition on the podcast, but I feel I would be doing a disservice to the patients that were affected by these individuals. As a result, I will publish this disclaimer on these episodes and a statement that this eponym will no longer be used on the blog or podcast after the ep-pain-nym segment and ask that you do the same.


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Up To Date. www.uptodate.com
  6. Asperger JK. Die “Autistischen Psychopathen” im Kindesalter. Archiv für Psychiatrie und Nervenkrankheiten. 1944;117(1):132–135
  7. Wing L. Asperger’s syndrome: a clinical account. Psychological medicine. 1981; 11(1):115-29. [pubmed]
  8. Frith, Uta (January 1992). “‘Autistic psychopathy’ in childhood”. Autism and Asperger syndrome (First ed.). NewYork: Cambridge University Press. pp. 37–92. ISBN978-0521386081.
  9. Sheffer, Edith (2018). Asperger’s Children: The Origins of Autism in Nazi Vienna. W.W. Norton and Company. ISBN978-0-393-60964-6.
  10. Skull, Andrew (December 13, 2018). “De-Nazifying the “DSM”: On “Asperger’s Children: The Origins of Autism in Nazi Vienna””. Los Angeles Review of Books.

PAINE #PANCE Pearl – Pediatrics



Question

You are consulted to see a 2-day old baby boy for failure to pass the first meconium stool and an episode of bilious emesis. He was 37-weeks gestation at the time of a normal spontaneous vaginal delivery without any complications. Physical examination reveals a distended abdomen and digital rectal exam results in an explosive expulsion of stool and gas. A contrast enema was ordered and is attached. What is the specific cause (not the diagnosis) of this infant’s condition and what is the next diagnostic step?