Patient Presentation
A 5-year-old male came to clinic for his health supervision visit.
He had moved recently to the area. His mother had no current concerns but said, “I always ask about what I need to be worried about since he had neonatal lupus.”The past medical history revealed that he had neonatal lupus that was diagnosed at birth with a rash.
This resolved within a few weeks and he had no cardiac problems. The patient had otherwise been well.
The family history was positive for diabetes, thyroid disease and rheumatoid arthritis in the maternal family.
Two younger siblings were healthy and did not have neonatal lupus. His mother was also healthy.
The review of systems was normal.
The pertinent physical exam showed he had growth parameters in the 75-95% for age. All his vital signs and physical examination were normal.
The diagnosis of a healthy 5 year old was made.
After the family medicine physician had done the normal anticipatory guidance, she returned to the neonatal lupus question.
She had a computer available and was able to quickly look up a current brief review of neonatal lupus.
The physician was not able to find any information that showed any potential problems for the child who had only cutaneous manifestations of neonatal lupus this far out from birth.
She did tell the mother that she would review information about lupus and other rheumatic diseases, and that they could talk about when the mother came in for her own health supervision visit.

Discussion
Neonatal lupus erythematosus occurs in 1 of every 20,000 live births, and is caused by passive transfer of maternal antibodies to the fetus.
About 50% of patients with neonatal lupus have mothers who are asymptomatic and the other 50% occurs in mothers with systemic lupus erythematosus or Sjögren syndrome.
In a prospective study of mothers with infants with neonatal lupus, the mothers themselves who were asymptomatic or had an unidentified autoimmune syndrome usually did not progress to have other rheumatic diseases.

Learning Point
The clinical manifestations of neonatal lupus include:

• Cardiac problems - complete or incomplete congential heart block, but also carditis or myocarditis
• Skin problems - annular erythematous plaques with a small amount of scale, telangectasias and/or depigmentation
• Liver problems - hepatospleenomegaly, transaminiemia
• Platelet problems - thrombocytopenia and petechiae
• Pulmonary problems - pneumonitis

The antibodies are most commonly anti-SSA/Ro or SSB/La antibodies. Most infants exposed to these antibodies do not develop neonatal lupus.
The risk for an infant to develop neonatal lupus with a mother who tests positive for these antibodies is only 1%. Other factors such as genetics and/or viruses may play a role in which fetuses are affected.
A subsequent child born to a mother who had a child with neonatal lupus, has a 25% risk of having any manifestation of neonatal lupus but most of these manifestations (18-20%) are congenital heart block.
Congenital heart block unfortunately carries a 20% mortality rate and most patients need permanent cardiac pacing.
Luckily, the other abnormalities disappear as the maternal antibodies wane.

Questions for Further Discussion
1. How does neonatal lupus different clinically from systemic lupus erythematosus presenting in childhood?
2. What clinical problems should a neonatologist be ready to treat at birth?

Related Cases

Disease
Lupus

Symptom/Presentation
Health Maintenance and Disease Prevention

Specialty
Cardiology / Cardiovascular-Thoracic Surgery
Dermatology
General Pediatrics
Immunology
Neonatology
Obstetrics / Gynecology
Rheumatology

Age
School Ager

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Lupus

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

Izmirly PM, Rivera TL, Buyon JP.
Neonatal lupus syndromes.
Rheum Dis Clin North Am. 2007 May;33(2):267-85, vi.

Callen JP. Neonatal Lupus and Cutaneous Lupus Erythematosus in Children. eMedicine.
Available from the Internet at http://www.emedicine.com/ped/topic602.htm (rev. 08/18/2008, cited 10/13/2008).

ACGME Competencies Highlighted by Case

Patient Presentation
A 5-day-old female came to the inpatient floor for continued monitoring of her feeding.
The past medical history showed a 38 week female who had been diagnosed by intrauterine ultrasound to have a cleft lip and palate.
This was confirmed at birth.
The family history was positive for thyroiditis and cancer. It was negative for congenital abnormalities, genetic syndromes, neurological or learning problems.
The pertinent physical exam showed an alert, interactive infant who was 4% decreased from birth weight with the rest of her vital signs being normal.
HEENT revealed a left sided cleft lip, bilateral cleft palate (complete on the left and incomplete on the right). Nares were patent.
She had a small sacral dimple within the gluteal cleft that the base could easily be seen. The rest of her examination was normal.
The diagnosis of bilateral cleft palate and unilateral cleft lip was reconfirmed. She was evaluated by the local cleft lip and palate multispecialty team.
The patient’s clinical course over the next days found her parents to be mastering proper positioning and use of a special squeeze bottle with a premature infant nipple using regular infant formula.
She was discharged home and continued to gain appropriate weight. At 4 months of age, she underwent a successful operative procedure to close the cleft lip and to placed bilateral pressure equalizing tubes in her ears.
She had two episodes of otitis media over the next 8 months when she returned for closure of the bilateral cleft palate which was successful.
Three months later her family moved to another region of the country and care was transferred to a new multispecialty team.

Discussion
Patients with clefting often need the services of a multispecialty team of providers. Each child is unique and may need some or more specialists including
speech and audiology, nutrition, surgery (otolaryngology, plastic, dental/orthodontics), psychiatry/psychology, social work, and genetics.

Problems associated with cleft lip and palate include:

• Dental and orthodontia problems
• Feeding difficulties
• Hearing loss - most commonly conductive
• Language disorders - expressive and receptive language
• Speech disorders - articulation, phonation and resonation disorders commonly caused by velopharyngeal insufficiency
• Obstructive sleep apnea
• Psychosocial problems
• Surgical challenges to repair
• Surgical complications
• Treatment for other problems associated with genetic syndromes

Weight gain can be one of the most vexing problems for families. However, usually with the help of nutritionists, babies with clefts can successfully grow.
Many babies can successfully breastfeed or bottle feed. However, others require special feeding bottles such as the Special Needs Feeder®, Cleft Lip and Palate Nurser® or Pigeon Bottle®.
Other children may need oral gastric feedings too for nutritional maintenance and growth.
Babies usually need to be around 10 pounds of weight and 3 months of age before the first surgical repair.

Learning Point
Clefting occurs ~ in 1/300 Native Americans, 1/500 in Asian and 1/800 Caucasian children in the United States.
Most cases of cleft lip and palate are genetically isolated cases (75%) but some are associated with specific genetic anomalies (25%).
In isolated cases, there is only ~4% recurrence risk in future siblings.

Van der Woude syndrome (associated with lip pits), Stickler syndrome (associated with Pierre Robin sequence) and 22q11.2 deletion syndrome (also known as velo-cardio-facial syndrome) are the most common syndromes associated with clefting.
Other syndromes include CHARGE syndrome, Kabuki syndrome, Oculo-auriculo-vertebral dysplasia, Opitz syndrome,
Oral-facial-digital syndrome, Popliteal Pterygium syndrome and Wolf-Hirschhorn syndrome.

Cleft lip and palate occurs in 46% of patients, isolated cleft palate occurs in 32% of patients, and isolated cleft lip occurs in 21% of patients.
Unilateral left lip is more common than bilateral cleft lip which is also more common than unilateral right cleft lip.

Questions for Further Discussion
1. What specialists are on your local cleft lip and palate multidisciplinary team?
2. How often is cleft lip and/or palate found on prenatal ultrasonography?

3. Why are pressure-equalizing ear tubes often placed with the first surgery?

Related Cases

Disease
Cleft Lip and Palate
Birth Defects
Facial Injuries and Disorders

Symptom/Presentation
Syndromes
Failure to Thrive and Lack of Normal Physiologic Growth

Specialty
Genetics
Otolaryngology
Nutrition / Dietetics

Speech and Hearing

Age
Newborn

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Cleft Lip and Palate and Facial Injuries and Disorders.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

Kasten EF, Schmidt SP, Zickler CF, et.al.
Team care of the patient with cleft lip and palate.
Curr Probl Pediatr Adolesc Health Care. 2008 May-Jun;38(5):138-58.

Online Mendelian Inheritance in Man. Cleft Palate, Isolated. Available from the Internet at http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119540 (rev. 9/6/07, cited 10/6/08).

Online Mendelian Inheritance in Man. Orofacial Cleft 1.
Available from the Internet at http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119530 (rev. 7/17/08, cited 10/6/08).

ACGME Competencies Highlighted by Case

Patient Presentation
A pediatrician received a “curb-side” telephone consultation from a psychiatrist regarding
a 14-year-old female was admitted for treatment of a mixed anorexia/bulimia eating disorder.
She was medically stable and only complained of some minor upper abdominal pain after eating. She also had normal bowel and bladder habits.
Her laboratory evaluation was generally unremarkable except for hyperamylasemia that was trending downward.
Now it was increasing from 264 U/L two weeks previously to 305 U/L. Fractionation showed 75% was pancreatic, and the psychiatrist wondered what should be done.
The diagnosis of hyperamylasemia was made but the pediatrician wasn’t sure what to recommend.
So he said he would look up an answer and call back.
In searching PUBMED he found an abstract that briefly discussed the normal production, circulation and metabolism of amylase.
The pediatrician thought that maybe she was having some gastritis that was causing bowel irritation or bowel irritation itself that could cause increased reabsorption of the amylase, but recommended to check trypsinogen and lipase as other markers of potential acute pancreatitis and to also check blood urea nitrogen and creatinine to check for renal clearance.
He also recommended if any of these were abnormal to then consult with a gastroenterologist.
The pediatrician later learned that she did have some minor elevation of trypsinogen and lipase with normal renal function tests, but one week later these had normalized and her amylase was now down to 240 U/L. The actual cause continued to be unknown.

Discussion

The eating disorders bulimia and anorexia can occur together and their general features are listed below.
Patients with anorexia nervosa refuse to maintain their body weight at or above a minimally normal weight for age and height (basically less than 85% of expected).
They have an intense fear of gaining weight or becoming fat, even though they are underweight.
They also have a distorted view of their own body weight or shape and often deny the seriousness of being underweight.
For women who are postmenarchal, amenorrhea often occurs.

Patients with bulimia nervosa have recurrent episodes of binge eating. A binge episode is eating an amount of food that is larger than most people would eat during a similar amount of time or similar circumstances. Patients eat this over a discrete time period (i.e. 2 hours)
During the episodes the patient feels a lack of control over the eating.
Patients have recurrent behaviors to prevent weight gain from the overeating episodes (i.e. fasting, excessive exercise, self-induced vomiting, using laxatives, diuretics, or enemas).
The overeating and inappropriate compensatory behaviors both occur at least twice a week for 3 months when averaged.
Patients have a distorted image of their weight and body shape.

Hyperamylasemia is common in patients with bulimia because recurrent emesis causes increased salivary production of amylase. Fractionated amylase in bulimics usually shows elevated salivary amylase and not elevated pancreatic amylase as in the patient above.

Learning Point
Amylase concentration in the serum is the product of the production and entry into the blood versus the removal from the blood.
Amylase fractionation can be helpful in determining the potential source since most of the amylase comes from the pancreas or salivary glands.
Amylase can also be produced by other organs including the fallopian tube, lung, thyroid and tonsils in addition to malignant neoplasms.
Pancreatic amylase in the gastrointestinal tract tightly binds to the small bowel mucosa and therefore small bowel injury can cause an elevation in serum amylase.
Maltase may also cross-react with amylase in some laboratory assays.

Clearance of serum amylase is renal therefore renal failure is also a cause of hyperamylasemia.
An amylase variation where the molecule is very large (i.e. macroamylasemia) also causes hyperamylasemia due to decreased clearance.

The differential diagnosis of hyperamylasemia includes:

• Pancreatic - pancreatitis, instrumentation, pseudocyst, trauma, choledocholithiasis, cystic fibrosis, biliary sludge, cancer
• Salivary - parotitis, calculi, trauma, surgery
• Bowel - trauma, perforation, infarct, obstruction, peritonitis, appendicitis
• Liver - hepatitis, cirrhosis
• Genitourinary - fallopian or ovarian cysts, salpingitis, ruptured ectopic pregnancy
• Renal - renal failure
• Other
  • Acidosis - ketoacidosis or non-ketotic acidosis
  • Abdominal aortic aneurism
  • Alcoholism
  • Drugs
  • Eating disorders - anorexia nervosa, bulimia
  • Extracorporal circulation
  • Macroamylasemia
  • Pneumonia
  • Trauma - cerebral, burns

Questions for Further Discussion
1. What are the physiological effects of anorexia or bulimia?
2. What laboratory abnormalities are seen in anorexia or bulimia?

3. How often do eating disorder cause death?
4. How is acute pancreatitis treated?

Related Cases

Disease
Eating Disorders
Pancreatic Diseases
Salivary Gland Disorders

Symptom/Presentation
Abnormal Laboratory Test
Behavior Problems
Eating Disorders

Specialty
Adolescent Medicine
Gastroenterology
Pathology
Psychiatry and Psychology

Age
Teenager

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Eating Disorders and at Pediatric Common Questions, Quick Answers for this topic: Eating Disorders

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

Pieper-Bigelow C, Strocchi A, Levitt MD. Where does serum amylase come from and where does it go? Gastroenterol Clin North Am. 1990 Dec;19(4):793-8.

Bakerman S, Bakerman P, Strausbauch P. Bakerman’s ABC’s of Interpretive Laboratory Data. 4th edit. Interpretive Laboratory Data, Inc. Scottsdale, AZ. 2002;47-49.

Behavenet. Anorexia nervosa.
Available from the Internet at http://www.behavenet.com/capsules/disorders/anorexia.htm (rev. 2008, cited 10/1/08).

Behavenet. Bulimia Nervosa.
Available from the Internet at http://www.behavenet.com/capsules/disorders/bulimia.htm (rev. 2008, cited 10/1/08).

ACGME Competencies Highlighted by Case

Patient Presentation
A pediatrician was awoken early in the morning on an international airline flight by loud sobbing a few rows away.
A few minutes later the flight attendant called for any available medical personnel.
The pediatrician found a 19-21 year old female who was crying hysterically.
The patient had woken up, started to cry and now could not stop.
Her mother stated that she had been previously well but was physically tired from an extensive trip.
She also had been emotionally stressed from working 2 jobs, having a sibling move away and was now returning to start college within a few days.
Her mother said that she was otherwise well and had never done anything like this before.
As far as the mother knew her daughter did not use drugs or medications and was not currently sexually active.
The pertinent physical exam showed a sobbing young adult. Pulse was ~110 beats/minute, respiratory rate was ~40 breaths/minute.
Blood pressure could not be audibly taken due to the noise of the aircraft and only an approximate palpable blood pressure of 120/70 could be obtained because she kept moving.
Her coloration and capillary refill could not be assessed as there was poor lighting in the cabin and the emergency flashlight had a slightly yellow-tint to the lens.
Her skin had no obvious rashes.
Her lungs were clear and her heart had no obvious abnormalities but auscultation was difficult because of the engines’ noise.
The diagnosis of a probable anxiety disorder including a panic attack, hyperventilation, and emotional instability possibly contributing was made.
The patient was given supplemental oxygen and was verbally assisted to concentrate on her breathing and to slow it down.
This she could do for several minutes, she would start to calm, and then she would begin another sobbing episode.
The flight purser came to the pediatrician wanting to know if he should call for emergency personnel to meet the plane as they were near landing.
No decision regarding diversion of the plane had to be made.
After a routine landing, the patient was carried off the plane by paramedics and taken away by ambulance.

Discussion
Estimates of in-flight emergencies vary because there currently are no consistent standards for measuring them.
Estimates range from 0.003% to 0.0005% (i.e. 1/333-1900 flights per year). Based on studies from the United States this translates into 13-33 emergencies/day.

Luckily most in-flight emergencies are not serious and most do not require evaluation or treatment by ground personnel.
Overall, vasovagal episodes such as dizziness, fainting or near fainting and hyperventilation are the most common. The most serious overall are cardiac, neurological and respiratory problems.
Estimates of in-flight deaths in the United States are 21-72/year with most being elderly passengers and are attributed to cardiac or pulmonary problems.

One study of pediatric in-flight emergencies found that pediatric patients accounted for 9.2% of all in-flight consultations to a ground-based medical consultation team.
The average age was 6.8 years, and the most common reason for ground consultation was for infectious disease problems (i.e. varicella, fever, otitis media).
Other common problems were neurological (i.e. seizures), pulmonary (i.e. asthma), gastrointestinal and allergic problems. The most common medication used in-flight was diphenhydramine.
The most common reasons for airline diversion were seizures and asthma. Airline diversions for pediatrics were not common but it was estimated that the diversions costs $1.25 million per year.

Recommendations for supplies and medications in the airplane’s emergency medical kit are provided by the Aerospace Medical Association. In the United States all aircraft with 30 or more passengers must have an emergency medical kit. Many airlines also carry supplemental kits with additional medications and supplies.
An additional medication source on board are the other passengers who can be asked to voluntarily provide their own medications.

Learning Point
As most in-flight emergencies will be for adult patients, a pediatrician may not feel as comfortable volunteering to help.
The Aviation Medical Assistance Act provides for limited “Good Samaritan” protection. The care provider should volunteer, provide care rendered in good faith and provide care that others with similar training would provide.
Voluntary medical personnel should not expect monetary compensation. The airlines may voluntarily offer a gift such as an upgraded seat, travel voucher, wine etc. which is not considered compensation.

Many airlines also provide direct communication with ground-based medical personnel who can assist the flight crew and volunteer medical personnel with evaluation, treatment options, and use of the emergency medical kit.
Decisions regarding diversion of the airplane rest with the pilot, but the volunteer medical personnel and the ground-based medical crew may be asked to provide recommendations to the pilot.

Although the airplane is pressurized, it is not pressurized to sea-level.
Therefore people with pulmonary or respiratory problems may have them exacerbated in-flight particularly if the flight is long.
For some patient’s, their oxygen dissociation curve lies unusually close to the steep part of the curve, and the decreased cabin pressure movesit along the steep aspect of the curve.
Also, air inside body cavities will expand with the decreased cabin pressure (i.e. Boyle’s law). Increasing the cabin pressure or descending to a lower altitude may improve both problems and therefore improve the patient’s condition. Supplemental oxygen is usually also available.

Patients with angina should be treated with aspirin and nitrates.

Unresponsive patients should be given oxygen, IV dextrose and have the automatic external defibrillator applied. Arrhythmias that require cardioversion can then be detected and cardioversion attempted. The defibrillator can also act as a general heart monitor.

Allergic reactions can be treated with diphenhydramine and in some cases epinephrine.

Patients with psychiatric emergencies such as acute agitation, psychosis or violence should be considered for sedation with benzodiazepine.

Vasovagal episodes can be treated by raising the patient’s legs and using cold compresses to the forehead.

Most or all of the medications listed should be in the emergency medical kit.

Questions for Further Discussion
1. What are the contraindications for airline travel?
2. At what age can a newborn travel in a plane?
3. What instructions should a pediatrician provide to families with children with chronic medical conditions regarding airline travel?

4. What is the airline industry standards for providing foods containing peanut and/or tree nuts?
5. In what other situations does “Good Samaritan” protection apply?

Related Cases

Disease
Anxiety
Panic Disorder
Breathing Problems

Symptom/Presentation
Crying and Colic
Mental Status Changes
Shortness of Breath

Specialty
Emergency Medicine
Psychiatry and Psychology
Travel Medicine

Age

Young Adult

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Panic Disorder and Anxiety.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

Gendreau MA, DeJohn C.
Responding to medical events during commercial airline flights.
N Engl J Med. 2002 Apr 4;346(14):1067-73.

Moore BR, Ping JM, Claypool DW.
Pediatric emergencies on a US-based commercial airline.
Pediatr Emerg Care. 2005 Nov;21(11):725-9.

Thibeault C, Evans A; Air Transport Medicine Committee, Aerospace Medical Association.
Emergency medical kit for commercial airlines: an update.
Aviat Space Environ Med. 2007 Dec;78(12):1170-1.

ACGME Competencies Highlighted by Case