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A 15-year-old girl with a history of cerebral palsy and severe spasticity is brought in by her family because she has been having difficulty awakening in time for school over the past week.  She feels inordinately tired and “groggy”, but as the day progresses she feels more awake and attentive.  She has been progressing well in advanced courses in high school; she is afraid she will get behind and be held back a grade.  The family brings her in because she wasn’t able to get out of bed until well after Noon.

She has no other past medical history; her past surgical history is significant only for an appendectomy at age 5 and an intrathecal baclofen pump last year for her spasticity.  Her vital signs are normal; it is 8 pm in a busy ED, and the girl is bright, interactive, and attentive.  Her physical exam is normal, with her baseline motor compromise; there is no evidence of trauma, infection, or toxidrome.

Regarding her management, which of the following is the single BEST answer:

A.      Admit the patient for observation and caregiver holiday

B.      Keep the patient in the ED in a relaxed, supine position for a brief observation
         period

C.      Send the patient home with a short PO course of baclofen to prevent evening
          withdrawal symptoms

D.      Discharge the patient with referral to psychiatry to evaluate coping skills


In the meantime, a quote –

Nothing is easier than self-deceit.  For what each man wishes, that he also believes to be true.

– Demosthenes (384 BC - 322 BC)

A tired mother brings two of her children, a boy age 6, and a girl, age 11 to the ED for cough and rhinorrhea over the past 2 days.  Their vital signs are normal, and their examinations are reassuring.  During the visit, she asks that her 3-month-old boy also be registered and evaluated for a “check up”.

The boy was born at 35 weeks without complications.  He has not received his two-month vaccinations because “he was sick that day”.  She explains that he always seems fussy, and never eats enough.  During a family party last night, she was upset that he wasn’t “awake enough” for relatives to visit him.  There has been no fever, vomiting, or diarrhea.  She has not noticed a rash.  There are no dominant illnesses in the family that she can recall.

On examination, the child does not track with his eyes and is lethargic.  He has decreased tone, but holds his head up appropriately when mother sits him up in her lap after his formula feeds. 

His vitals show T 36.9 HR 152 BP 78/50 RR 36 SpO2 99% RA.  He appears volume depleted, with slightly sunken eyes and capillary refill of 2-3 seconds.  His pulses are not bounding; his breathing is slightly tachypneic, but appears effortless.  His abdomen is soft, non-tender, without organomegaly; the boy’s scrotum appears slightly darker than his general skin tone.  You do not appreciate a rash; there is no evidence of trauma.

At this point, what are your management priorities?

What ancillary studies would be helpful?

What is your differential diagnosis based on what you know now?

You recognize that this infant is in compensated shock, with an elevated heart rate and ill appearance, and begin volume resuscitation with 20 mL/kg 0.9% sodium chloride.  A point-of-care blood analyzer reports: pH 7.34 Na+ 97 K+ 7.5 Ca2+ 10 Glucose 66.

 

Does this help to hone your differential diagnosis?

You decide that this child is at risk for sepsis (among other things), and perform a full workup including chest radiograph, urinalysis with culture, blood cultures, blood work, and a lumbar puncture.  Luckily, you have the presence of mind to send an additional set of blood vials to the laboratory to freeze and send out for specialized analysis.

Based on the information you have at this point, you treat for sepsis while you consider other etiologies.

 

What metabolic pattern can you recognize from the bedside blood analysis?

A sick infant with hyponatremia and hyperkalemia suggests congenital adrenal hyperplasia or pseudohypoaldosteronism.

Classic congenital adrenal hyperplasia (CAH) involves a salt-wasting syndrome, most commonly due to 21-hydroxylase deficiency.  Since 21 hydroxylase is not available to convert 17-hydroxyprogesterone to 11-deoxycortisol, there is a decreased synthesis of cortisol and therefore an increased secretion of corticotropin (ACTH).  Decreased cortisol results in salt wasting while increased ACTH results in increased androgen synthesis.  Both baby boys and girls experience salt wasting, but baby girls present virilized or with ambiguous genitalia.   This is often diagnosed in the newborn nursery.  Baby boys, however, appear normal, and may present in the first few weeks of life (typically) on the spectrum from vague symptoms of failure to thrive to an adrenal crisis.

Bottom line: a young sick infant who may fit this pattern should receive a stress dose of steroid: give 25 mg hydrocortisone IV (same dose during the first year of life).


What other etiologies are possible here?

Failure to thrive may be due to a long list of illnesses that are rarely clarified in the ED.  (Formula mishaps, non-accidental trauma, poisoning, and other etiologies should be considered in the differential diagnosis in the ED.)

Renal tubular acidosis, type IV presents with hyperkalemia and often no salt wasting in adults; children may present with a metabolic acidosis, hyperkalemia, and hyponatremia – similarly to CAH.

Pseudohypoaldosteronism (type 1, transient) is an acquired form, most commonly in pediatrics from a urinary tract infection.  Other causes in other populations include nephritis, amyloidosis, ACE inhibitors, and beta-blockers.  Presumably, parenchymal inflammation leads to tubular resistance to aldosterone.  The treatment is to address the underlying cause and offer supportive care.  In the case where there is uncertainty between CAH and pseudohypoaldosteronism, always investigate and treat for sepsis, and give hydrocortisone.  It can be discontinued if/when an alternative diagnosis (such as pseudohypoaldosteronism) is made.


What happened in this case?

The boy was treated for possible sepsis and presumed CAH with antibiotics, IV fluids, and hydrocortisone.  Samples taken when blood was first drawn were sent for cortisol, 17OHP, aldosterone, and renin (and other genetic testing) which ruled out CAH.  The urine culture grew E. coli, and the child was investigated for urethral valves with a voiding cystourethrogram (VCUG), renal anomalies with renal ultrasound, and parenchymal disease with a DMSA scan.  His posterior urethral valves were ablated with cystoscopy, and his vesicoureteral reflux has begun to resolve.  This was a case of transient pseudohypoaldosteronism, secondary to urinary tract infection (secondary to posterior urethral valves and vesiculoureteral reflux). 


Take home messages

• Newborn screening is generally an effective public health measure, but relies on prompt processing of samples in hospital (institutions have been known to send samples in batches) and good contact information for the family.  Any break in the chain can lead to a delay in diagnosis and treatment, with subsequent decompensation.  A recent study in Colorado found that their screening missed up to 30% of cases of CAH.  Vigilance is essential.
  

• An ill appearing child is septic until proven otherwise, regardless of the atypical presentation.  In this case, had he presented with CAH, an infection may have tipped the balance, precipitating this crisis in the context of sepsis.
  

• Be careful not to hypercorrect serum sodium.  In general, in matters of volume versus osmoles, volume typically wins.  That is, resuscitate those in shock to euvolemia (remember that normal saline is already “hypertonic” in relation to most hyponatremia).  Do not directly treat the hyponatremia unless the child is profoundly altered acutely or seizing (i.e. treat acute, severely symptomatic hyponatremia).  At that point, an easy remedy to remember is: 3 mL/kg of 3% saline over 30 minutes.  Stop giving the 3% as soon as the seizure stops.
  

• In this case, our child may have had a smoldering urinary tract infection or recurrent mild infections that led to parenchymal insult and pseudohypoaldosteronism that resolved after resolution of his urinary tract infection/pyelonephritis.

References

Chan CL, McFann K, Taylor L, Wright D, Zeitler PS, Barker JM. Congenital adrenal hyperplasia and the second newborn screen. J Pediatr. 2013; 163(1):109-113.

Kaye CI, Committee on Genetics, Accurso F, et al. Newborn screening fact sheets. Pediatrics. 2006; 118:e934.

Manikam L, Cornes P, Kalra D, Ford C, Gama R. Transient pseudohypoaldosteronism masquerading as congenital adrenal hyperplasia. Ann Clin Biochem. 2011; 48: 380-382.

Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005; 365:2125.

Nandagopal R, Vaidyanathan P, Kaplowitz P. Transient Pseudohypoaldosteronism due to Urinary Tract Infection in Infancy: A Report of 4 Cases. Int J Pediatr Endocrinol. 2009;2009:195728.  doi: 10.1155/2009/195728

Speiser PW, Azziz R, Baskin LS, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010; 95:4133.

A 27-year-old woman with no past medical history was riding her mountain bike
downhill when she encountered “gnarly terrain”, lost control, and over-corrected
her handlebars to the right.  Arms locked, she fell with full force to her left and her handlebar impacted her chest at the terminus of her fall.  Winded but resilient, she rode several miles to her car and drove herself to the ED after she noticed a painful “popping” and transient deformity each time she coughed.

In the ED, T 37.8 HR 52 118/72 RR 14 98% RA.  In general, she is tired but in no apparent distress.  Her lungs are clear bilaterally with a somewhat diminished tidal volume, due to painful splinting.  Her total body check reveals no other trauma. 
The visual inspection of her chest reveals:

Her bedside ultrasound and chest radiograph show no evidence of hemothorax,
pneumothorax, pericardial effusion, or opacity.  Her electrocardiogram shows no evidence of dysrhythmia or conduction delay.  She is feeling somewhat better after an
NSAID.  

Based on her presentation, which of the following is the MOST likely etiology?

    A. Sternalis syndrome
    B. Tietze syndrome
    C. Arthroidal subluxation
    D. Slipping rib syndrome



In the meantime, a few quotes –


“Deliberate with caution, but act with  decision; and yield with graciousness, or oppose with firmness.” 

– Publilius Syrus, Latin writer, 1st century BC


 "Among mortals second thoughts are wisest.”

– Euripides, tragedian of classical Athens, 480–406 BC

A 13-year-old boy was riding his bicycle two days ago when he began to have sharp, pleuritic pain in his right chest.  He has no shortness of breath or fevers.  He has no past medical history, but on a review of systems he reports a two-month history of back pain with “good days and bad days”.  Although he had mentioned it to his parents in passing some time ago, there appear to be some distracting social stressors in the family.  

His vital signs are normal, and when you examine him you see this:

As you consider your differential diagnosis, you try to ask the correct screening questions.

Which of the following has NOT been validated as a screening measure in US children?

    A. Has a family member or contact had tuberculosis disease?

    B. Has a family member had a positive tuberculin skin test result?

    C. Has your child complained of a prolonged cough (longer than you thought to
         be normal) or a cough with bloody sputum?

    D. Was your child born in a high-risk country (countries other than the United
         States, Canada, Australia, New Zealand, or Western and North European
         countries)? 
 
 
In the meantime, a few quotes – 
 
“Man ought to be man and master of his fate; but children are at the mercy of those around them.”

– Sir John Lubbock (1834-1913), English educationalist and reformer
 
..and..

“I prefer to be called a fool for asking the question, rather than to remain in ignorance.”

– John Homans (1836-1903), US professor of surgery
   Boston Medical and Surgical Journal 87:1 (1872)

A 58-year-old woman presents to the ED altered, hypotensive, and tachycardic.  While you assess the possible etiology of her undifferentiated shock, you gain peripheral intravenous access, start crystalloid resuscitation, and mentally prepare for what seems to be the inevitability of vasopressor use.

Given her current intravenous access, which of the following vasopressors may be the MOST problematic:

    A. Dopamine
    B. Norepinephrine
    C. Epinephrine
    D. Vasopressin


In the meantime, a few quotes – 

“The risk of a wrong decision is preferable to the terror of indecision.”

– Maimonides


"[In the end] 'M.D.' stands for: 'Make a Decision'."

– John Rose

A 12-year-old boy complains of right leg pain “on and off” for the past several weeks without alleviating or exacerbating features or history of trauma.  He has no systemic complaints, otherwise feels well, and is active in sports.  The boy has no past medical history and is not taking medications or supplements.  The family comes to the ED at 3 am because the boy woke up his parents complaining of worse pain.  He has not tried to take anything for this prior to his ED visit.

On examination, the boy has normal vital signs and a reassuring physical exam.  Due to the indolent nature of his complaints, you perform plain films:

Something unexpected catches your eye, and you magnify the image:

Based on his presentation and plain films, which is the MOST likely diagnosis?

    A. Osteoid osteoma
    B. Osteochondroma
    C. Unicameral bone cyst
    D. Aneurysmal bone cyst

 
In the meantime, a few quotes –


“Physicians think they do a lot for a patient when they give his disease a name.”

– Immanuel Kant (1724-1804), German Philosopher

 
…and…

 
“More is missed by not looking than by not knowing.”

– Thomas McCrae (1870-1935), physician and student of William Osler

A 27-year-old woman with no past medical history complains of dizziness, palpitations, nausea, and sweating intermittently over the past few months.  She worked as a receptionist for the past two years for a real estate agency while   she studied to be an agent.  A few weeks ago, she began to work as a realtor and she relates that her symptoms are more frequent and intense; she now feels mentally “cloudy” and is exhausted at the end of her work day.   The woman comes to the ED today because she is afraid that this is affecting her performance and that she will lose her job.

In the ED, she is comfortable if not slightly anxious. T 99.9 HR 89 BP 118/70 RR
12 SpO2 98% on ambient air.  She is a thin woman with normal heart, lung, and neurologic examinations.  After ordering an electrocardiogram and select auxiliary laboratories, you expect to reassess and discharge her, but when you return to the bedside you see her nervously pacing.  You notice that bilateral legs are ruborous without evidence of edema.  Her repeat vital signs are significant for BP 124/80 HR 124.  She has an otherwise normal repeat examination.  She feels “cloudy” again.

After IV fluids, a normal investigation, and an unremarkable brief observation period, your patient feels well and wants to go home.

What is your best advice for her until a diagnosis can be established?

    A. Follow a low-sodium diet
    B. Rest as much as possible until you see your primary care physician
    C. Avoid hot environments
    D. Wear loose-fitting clothes when at all possible


In the meantime, a quote – 

The two fulcra of medicine are reason and observation.  Observation is the clue to guide the physician in his thinking.

– Giorgio Baglivi (1669-1707), Professor of Anatomy at Sapienza, Papal University, Rome 

Introduction to De Praxi Medica

A 9-year-old boy is brought in by his foster mother because “I can’t handle him anymore”.  She describes his screaming, cursing, and refusing to do anything she asks.  Today he burst into rage, kicking her and throwing objects: “I hate you!”, “I just want to die!”, and “My head is gonna explode!”.

The child has been living with this foster mother for the past month, and she knows little of his past medical history, other than “he is bipolar, has ADHD, and has obsessive-compulsive disorder”.  The child is on risperidone, depakote, and methylphenidate.   His foster mother leaves briefly to recover an item in her car.

In the ED, the child is sitting quietly eating a snack. His vital signs are normal,
and his head-to-toe physical examination is normal.

During the ED course the child becomes agitated, attempting to leave, cursing, kicking, and is unresponsive to a concerted effort in verbal and situational de-escalation.  A decision to restrain the child chemically is made.

Of the following medications, which is the best first-line treatment in this agitated child?

    A. Antihistamine
    B. Typical antipsychotic
    C. Atypical antipsychotic
    D. Benzodiazepine


In the meantime, a few quotes – 

“Strategy without tactics is the slowest route to victory.  Tactics without strategy
is the noise before defeat.”  

― Sun Tzu (544–496 BC), Zhou dynasty general and philosopher

…and…

“Be kind, for everyone you meet is fighting a harder battle.” 

― Plato (428–347 BC), Classical Greek philosopher

A 64-year-old woman with diabetes mellitus and hypertension complains of slow
onset shortness of breath, weight gain, orthopnea, and bilateral leg  swelling.  

In the ED, HR 90 BP 200/100 RR 22 SpO2 91% RA.  She is in mild respiratory distress, and has rales up to half of her lung fields and bilateral pitting edema.  Her chest radiograph shows pulmonary congestion and her electrocardiogram demonstrates an R wave of 13 mm in aVL.  You decide to perform a bedside ultrasound which reveals a thickened concentric left ventricular wall, no pericardial effusion, and what appears to be a grossly normal ejection fraction.

Regarding her presentation, which of the following is the MOST likely?

A. Left ventricular failure from systolic dysfunction
B. Left ventricular failure from diastolic dysfunction
C. Right heart strain from pulmonary hypertension
D. Right heart strain from tamponade physiology


In the meantime, a few quotes – 

“Diagnosis is not the end, but the beginning of practice.” 
 
…and…

“A conclusion is the place where you got tired thinking.”

– Martin H. Fischer (1879 – 1962), German-born American physician and author