Rocky Mountain Spotted Fever

RMSFTicks are disgusting (no offense ticks). They engorge themselves on our blood, becoming bloated sloth-like sacs of our serum. While that is certainly not appealing, what makes them most offensive is their tendency to transmit awful diseases to us.  These diseases (and unique conditions – Tick Paralysis) are numerous, but one of the most important to review (especially for those of us in North Carolina, USA) is Rocky Mountain Spotted Fever.

 

Rocky Mountain Spotted Fever (RMSF)

  • The Spotted Fever Group (SFG) of illnesses are caused by several Rickettsia species: [Biggs, 2016]
    • R. rickettsii
      • In the Eastern US, transmitted by Dermacentor variabilis (Dog Tick)
      • In the Western US, transmitted by Dermacentor andersoni (Rocky Mountain Wood Tick)
    • R. pakeri
      • Typically a more mild version of RMSF
      • Presents with inoculation eschar
      • Transmitted by Amblyomma maculatum (Gulf Coast tick)
    • Rickettsia species 364D
  • RMSF has the highest rates of severe and fatal outcomes of all of the rickettsiosis (in the USA). [Biggs, 2016]
    • Highest case-fatality rate is in children <10 years of age.
    • RMSF can occur in all ages and highest incidence is actually in the elderly.
  • Incidence of RMSF varies by geographic regions, with 63% of cases originating in 5 states: [Biggs, 2016]
    • Arkansas
    • Missouri
    • North Carolina
    • Oklahoma
    • Tennessee
    • So… not necessarily “Rocky Mountain!” 
    • Has also emerged recently in Arizona with high case-fatality rates in children.
  • RMSF is seasonal: 90% of cases occur between April and September.

 

RMSF Presentation

  • Initial symptoms are typically not specific (and, thus, requires our vigilance).
    • Symptoms appear 3-12 days after bite
    • For patients who end up with severe disease, incubation is shorter (< 5 days).
  • Initial symptoms include sudden onset of: [Biggs, 2016]
    • Fever, chills
    • Headache
    • Malaise, myalgia, anorexia
    • Nausea, vomiting, and abdominal pain
    • Photophobia
  • Rash? [Biggs, 2016]
    • Begins as small, blanching pink macule on ankles, wrists/forearms.
      • Then rash spreads to palms, soles, and up extremities.
      • Spares the face.
    • As illness progresses, the rash can develop associated petechiae (days 5-6).
    • Triad of Fever, Rash, and Tick Exposure is not commonly seen initially.
      • < 50% have a rash present within first 3 days of illness.
      • Rash typically appears 2-4 days after onset of fever, so patients may seek care before rash develops.
      • Some children will never develop a rash.
    • Eschar or ulcerative lesion may be present when associated with other SFG illness (ex, R. parkeri).

 

RMSF Late-stage Findings

  • RMSF leads to a systemic vasculitis, so multiple organs can be involved.
    • Meningoencephalitis
    • Acute Renal Failure
    • ARDS
    • Shock
    • Arrhythmia
    • Cutaneous necrosis
  • May become look similar to other conditions like Kawasaki or thrombocytopenic purpura.[Biggs, 2016]

 

RMSF Lab Findings

  • Common lab abnormalities include:
    • Thrombocytopenia (consumptive)
    • Hyponatremia (due to secretion of ADH and hypovolemia)
    • Increased (slightly) LFTs
    • Increased immature neutrophils
  • Lab findings are often normal early on in illness (so won’t help make the diagnosis early, when it needs to be treated).
  • Diagnostic tests for RMSF is not helpful during early stages of illness.

 

RMSF Treatment

  • Let’s make this simple… treatment is Doxycycline.
    • For kids <45 kg; dose = 2.2mg/kg Twice a Day
    • For patients >45 kg; dose = 100 mg Twice a Day
    • Treat for at least 3 days AFTER resolution of fever
  • Without appropriate therapy, RMSF progresses rapidly.
    • Early, empiric therapy is the best way to prevent RMSF progression. [Biggs, 2016]
    • Delays in diagnosis associated with:
      • Early presentation
      • Late-onset (or absence) of rash
      • Absence of headache (accentuation of GI symptoms)
  • Unfortunately, many providers often think Doxycycline cannot be given to children <8 years of age. [Zientek, 2014; O’Reilly, 2002]
    • Concerns for dental staining or enamel hypoplasia are often cited as reason to not use Doxycycline.
    • Doses appropriate for RMSF treatment have proven to be safe in children. [Todd, 2015].

 

Moral of the Morsel

  • RMSF is deadly, but initially presents with non-specific symptoms, making it challenging to detect.
  • Classic triad of fever, rash, and tick exposure should not be relied upon.
  • Relying on history of tick exposure (often not known) can obscure diagnosis.
  • Doxycycline is safe and effective in children! Don’t worry about the teeth!
  • Treat RMSF empirically!
  • Be vigilant during peak seasons: Summer-time “Headache and Fever” needs to have RMSF on the top of the DDx.

 

References

Biggs HM1, Behravesh CB, Bradley KK, Dahlgren FS, Drexler NA, Dumler JS, Folk SM, Kato CY, Lash RR, Levin ML, Massung RF, Nadelman RB, Nicholson WL, Paddock CD, Pritt BS, Traeger MS. Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever and Other Spotted Fever Group Rickettsioses, Ehrlichioses, and Anaplasmosis – United States. MMWR Recomm Rep. 2016 May 13;65(2):1-44. PMID: 27172113. [PubMed] [Read by QxMD]

Alvarez-Hernandez G1, Murillo-Benitez C, Candia-Plata Mdel C, Moro M. Clinical profile and predictors of fatal Rocky Mountain spotted fever in children from Sonora, Mexico. Pediatr Infect Dis J. 2015 Feb;34(2):125-30. PMID: 25126856. [PubMed] [Read by QxMD]

Todd SR1, Dahlgren FS1, Traeger MS2, Beltrán-Aguilar ED3, Marianos DW1, Hamilton C4, McQuiston JH5, Regan JJ1. No visible dental staining in children treated with doxycycline for suspected Rocky Mountain Spotted Fever. J Pediatr. 2015 May;166(5):1246-51. PMID: 25794784. [PubMed] [Read by QxMD]

Zientek J1, Dahlgren FS2, McQuiston JH2, Regan J3. Self-reported treatment practices by healthcare providers could lead to death from Rocky Mountain spotted fever. J Pediatr. 2014 Feb;164(2):416-8. PMID: 24252781. [PubMed] [Read by QxMD]

Graham J1, Stockley K, Goldman RD. Tick-borne illnesses: a CME update. Pediatr Emerg Care. 2011 Feb;27(2):141-7; quiz 148-50. PMID: 21293226. [PubMed] [Read by QxMD]

Cale DF1, McCarthy MW. Treatment of Rocky Mountain spotted fever in children. Ann Pharmacother. 1997 Apr;31(4):492-4. PMID: 9101014. [PubMed] [Read by QxMD]

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Liquid Nicotine

Vape DangerTobacco smoke is a health hazard for children (and us children of all ages).  We know this.  So it seems like movement away for cigarettes is good for everyone; however, the thirst for nicotine is still quite strong and is often satiated by electronic cigarettes (“e-cig”).  The overall safety of these devices is still to be determined, but it is important for us to realize that the kids are great at uncovering danger in almost everything (see Laundry Detergent Pods).  Let us review the potential hazard of Liquid Nicotine. {much appreciation to Dr. Christine Murphy for her expert insights!}

 

Childhood Poisoning

  • In the US, > 300 children / Day require treatment for poisonings. [CDC]
  • Over 50% of all ED visits for poisoning were for children <4 years of age. [Nalliah, 2014]
  • The majority of poisonings are unintentional in young children.
  • The Home is a Dangerous Place!
    • Over 90% of all toxic exposures occur in homes.
    • Liquid Nicotine exposures occur primarily in a child’s own residence. [Forrester, 2015]
    • The liquid nicotine containers are not currently sold in child proof packaging.
    • The packaging is often colorful and are often flavored – enticing to children. [Normandin, 2015]
    • Frequency of nicotine toxic exposure has increased over past several years. [Kamboj, 2016]

 

Liquid Nicotine: E-Cigs

  • Electronic cigarettes have been promoted as a tool for smoking cessation.
    • Primary benefit would be in reducing tobacco smoke exposure, and potentially reducing long-term sequelae.
    • Evidence shows that teenagers who have never used cigarettes now start using electronic cigarettes though (so not just a smoking cessation tool). [Lowry, 2014]
    • Acute poisoning from tobacco products is due to the nicotine.
  • Electronic cigarettes
    • E-cigs are battery-powered implements that heat a liquid solution to make vapors that are then inhaled.
    • Microprocessors detect inhalation force and trigger the heating process.
    • The liquid may contain flavors, various chemicals (ex, propylene glycol, glycerol), and liquid nicotine.
  • Liquid Nicotine
    • Formulations of liquid nicotine products vary greatly. [Forrester, 2015]
    • Nicotine concentrations range from 18mg/mL to 100mg/mL.

 

Nicotine Toxicity

  • Nicotine is readily absorbed through the lungs, skin, GI tract, and mucous membranes.
  • Ingestion is the most common exposure route, but can also occur by dermal, ocular, and inhalation routes.
  • Toxic Dose is not exactly know, but estimated at 1.4mg/kg.
  • Toxic Symptoms

    • Mild
      • Nausea/vomiting
        • Vomiting is the most common significant symptom (24%) [Forrester, 2015]
      • Tremors
      • Tachycardia, tachypnea, elevated blood pressure
    • Severe
      • Salivation, diaphoresis
      • Dysrhythmia, fasciculations
      • Headache, dizziness, ataxia
      • Seizures, drowsiness, coma, respiratory failure
      • Fatalities have been reported [Eggleston, 2016; Normandin, 2015]

 

Nicotine Toxicity Treatment

  • Airway, Breathing, Circulation, Disability, and Exposure.
  • As with all possible toxic exposures, decontamination is important.
    • Remove any soiled clothing.
    • Flush eyes for ocular exposure.
    • Rinse other areas of dermal exposure.
  • Symptomatic management is the primary strategy.
    • Be aware that seizures may present before vomiting.
    • Patients with symptoms should be observed until asymptomatic with normal vital signs.
  • Treat seizures with benzodiazepines. If intractable seizures, give more benzos, rather than anti-epileptics. [Dr. Murphy communication – of course the toxicologist would advocate for “more benzos.”]
  • While activated charcoal can absorb nicotine, it is not recommended due to the fact that onset of symptoms is rapid and often complicated by vomiting and seizures (both of which do not go well with charcoal).

 

Moral of the Morsel

  • If there is potential danger, kids will find it.
  • Liquid nicotine comes in attractive and enticing packaging that is not child-proofed.
  • Liquid nicotine comes is very concentrated forms.
  • Seizures may occur in severe toxic exposures even before emesis.
  • Treat seizures with benzos… and more benzos.
  • Take time to educate families about possible hazards before them become a critical event!

 

References

Eggleston W1, Nacca N2, Stork CM1, Marraffa JM1. Pediatric death after unintentional exposure to liquid nicotine for an electronic cigarette. Clin Toxicol (Phila). 2016 Jul 7:1-2. PMID: 27383772. [PubMed] [Read by QxMD]
Forrester MB1. Pediatric Exposures to Electronic Cigarettes Reported to Texas Poison Centers. J Emerg Med. 2015 Aug;49(2):136-42. PMID: 25802158. [PubMed] [Read by QxMD]

Normandin PA1, Benotti SA2. Pediatric Emergency Update: Lethality of Liquid Nicotine in E-Cigarettes. J Emerg Nurs. 2015 Jul;41(4):357-9. PMID: 25913384. [PubMed] [Read by QxMD]
Garbutt JM1, Miller W2, Dodd S2, Bobenhouse N2, Sterkel R3, Strunk RC2. Parental Use of Electronic Cigarettes. Acad Pediatr. 2015 Nov-Dec;15(6):599-604. PMID: 26306662. [PubMed] [Read by QxMD]

Collaco JM1, Drummond MB2, McGrath-Morrow SA1. Electronic cigarette use and exposure in the pediatric population. JAMA Pediatr. 2015 Feb;169(2):177-82. PMID: 25546699. [PubMed] [Read by QxMD]

Gill N1, Sangha G1, Poonai N1, Lim R1. E-Cigarette Liquid Nicotine Ingestion in a Child: Case Report and Discussion. CJEM. 2015 Nov;17(6):699-703. PMID: 25892642. [PubMed] [Read by QxMD]

Nalliah RP1, Anderson IM, Lee MK, Rampa S, Allareddy V, Allareddy V. Children in the United States make close to 200,000 emergency department visits due to poisoning each year. Pediatr Emerg Care. 2014 Jul;30(7):453-7. PMID: 24977994. [PubMed] [Read by QxMD]

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Agitation

Chemical RestraintThe world can be a scary and dangerous place, but few things are as dangerous as an acutely agitated patient in your emergency department.  While violent adults in the ED seem nearly commonplace (although still deserve provider’s vigilance), the agitated and dangerous child is also becoming more prevalent in our EDs.  The management of acute agitation in children can be challenging, so let’s spend a minute considering our options.

 

Agitation: What is it?

  • This seems like a silly question, but the literature does not use a consistent definition. [Sonnier, 2011]
  • Most definitions include behavior that may lead to harm to the patient or healthcare providers if no intervention is taken.

 

Agitation: Common?

  • Estimated that 10-20% of children and adolescents have mental disorders and/or substance abuse.
  • ED visits for psychiatric conditions in children continue to increase. [Pittsenbarger, 2014]
  • The resources required to care for pediatric patients needing psychiatric care in the ED continues to increase also. [Sheridan, 2015]
  • During psychiatric evaluation, about 1 out 15 of kids required restraint. [Dorfman, 2006]

 

Agitation: What is it due to?

  • This question is incredibly important to address.
    • Similar to the trauma patient, do not get distracted by the obvious injury and overlook the more substantial, occult one.
    • Violent behavior may be why the patient is in the ED, but think of it as a symptom rather than the diagnosis.
    • The acutely agitated patient is not a “psychiatric patient” until you’ve consider the other emergent medical conditions.
  • Undifferentiated agitation (abridged) Ddx:
    • Broad Categories:
      • Medical Conditions
      • Substance Use
      • Psychiatric illness
    • AEIOU TIPS (yes… this is the one for Altered Mental Status… I’m not smart enough to remember more than one acronym)
      • Alcohol – while often a sedative, ETOH can cause agitation
      • Electrolyte derangements (ex, hyponatremia, hypercalcemia)
      • Insulin (got hypoglycemia??)
      • Opiates and Other Drugs (got a toxidrome? anticholinergic vs sympathomimetic? NMS? Serotonin syndrome?)
      • Uremia
      • Trauma – Look closely for signs of trauma
      • Infection – Meningitis/encephalitis?
      • Psychiatric disorder – really should be the last one considered
      • Space occupying lesion
    • While each year a new set of “designer” intoxicants may be added to the list, don’t become enamored with them and forget more “boring” entities (ex, hypoglycemia!).

 

Agitation: Management?

  • Primary Goal = keep patient and staff safe while allowing continued evaluation.
    • The least restrictive method that attains this goal should be used. [Adimando, 2010]
    • Unfortunately, how to safely restrain pediatric patients is not often taught. [Dorfman, 2004]
  • If not immediately dangerous, attempt simple, nonrestrictive strategies: [Adimando, 2010]
    • Verbal de-escalation
    • Reduction of environmental stimuli (a quite room is much better than a loud hallway)
    • Offer basic needs (ex, food, warm blanket)
  • If simple tactics don’t work, or the patient is initially dangerous, move onward to restraint.
  • Ideally, before selecting a medication, the etiology would be known so risk could be minimized…
  • In reality, evaluation and management occur concurrently, so some Rx options may be less desirable in the undifferentiated acutely agitated patient.
  • “Chemical Restraint”

    • Oral vs Intramuscular
      • If the patient is cooperative, offer oral medications first.
        • May give the patient sense of some control.
        • Avoid trauma of being physically restrained for IM shot
        • Many medications are equally effective in oral form
      • If patient is not cooperative, the oral route is not going to be an option.
    • There is no perfect medication option for every scenario, and the true efficacy of the various options is unknown in children, so be conservative and keep a few options in mind: [Carubia, 2016]
      • Benzodiazepines
        • Lorazepam – 0.05-0.1 mg/kg/dose (PO/IM/IV)
        • Midazolam – 0.25-0.5 mg/kg/dose PO; 0.2-0.3 mg/kg IN; 0.1-0.15 mg/kg/dose IM
      • First Generation Antipsychotics
        • Haloperidol – 0.5-5 mg PO; 0.05-0.15 mg/kg IM (up to 5 mg/dose)
        • Droperidol – 0.03-0.07 mg/kg/dose (IM/IV)
          • Has become scarce in the USA after FDA black-box warning regarding QT prolongation — which other antipsychotics cause as well (some even more so)
          • Has been shown to be safe and effective for acute agitation in pediatric patients in ED setting. [Szwak, 2010]
        • Chlorpromazine – 0.55 mg/kg/dose (PO/IM)
      • Second Generation Antipsychotics
        • Risperidone – 0.25-2 mg PO/ODT
        • Olanzapine – 2.5-5 mg PO/ODT
      • Others:
        • Diphenhydramine – 1 mg/kg/dose (PO/IM)
        • Ketamine (ok, so I’m biased, but this is awesome!) [Kowalski, 2015]
          • Rapid onset due to high bioavailability (even when given IM)
          • No QT prolongation issues
          • Safe even in overdose (important when you aren’t sure of patient weight)
          • No respiratory depression (rarely, may see laryngospasm)
          • Should likely avoid in patient with known schizophrenia
  • Physical Restraints

    • Can be dangerous (i.e., Rhabdomyolysis and Airway compromise), but there are safe methods to use.
    • Use as last option
    • Remove as soon as no longer needed

 

Moral of the Morsel

  • Acutely agitated patients can be hazardous to themselves and the entire ED; anticipate how you will deal with them (because eventually one will be requiring your acute attention).
  • Acute agitation is a symptom — look for the cause while keeping everyone safe.
  • Consider non-restrictive means to controlling the situation first, if possible.
  • There is no perfect medication that is good for every scenario and patient — keep several in your tool belt.

 

References

Carubia B1,2, Becker A3,4, Levine BH5. Child Psychiatric Emergencies: Updates on Trends, Clinical Care, and Practice Challenges. Curr Psychiatry Rep. 2016 Apr;18(4):41. PMID: 26932516. [PubMed] [Read by QxMD]

Sheridan DC1, Spiro DM, Fu R, Johnson KP, Sheridan JS, Oue AA, Wang W, Van Nes R, Hansen ML. Mental Health Utilization in a Pediatric Emergency Department. Pediatr Emerg Care. 2015 Aug;31(8):555-9. PMID: 25834957. [PubMed] [Read by QxMD]

Kowalski JM1, Kopec KT, Lavelle J, Osterhoudt K. A Novel Agent for Management of Agitated Delirium: A Case Series of Ketamine Utilization in the Pediatric Emergency Department. Pediatr Emerg Care. 2015 Oct 13. PMID: 26466151. [PubMed] [Read by QxMD]

Pittsenbarger ZE1, Mannix R. Trends in pediatric visits to the emergency department for psychiatric illnesses. Acad Emerg Med. 2014 Jan;21(1):25-30. PMID: 24552521. [PubMed] [Read by QxMD]

Sonnier L1, Barzman D. Pharmacologic management of acutely agitated pediatric patients. Paediatr Drugs. 2011 Feb 1;13(1):1-10. PMID: 21162596. [PubMed] [Read by QxMD]

Adimando AJ1, Poncin YB, Baum CR. Pharmacological management of the agitated pediatric patient. Pediatr Emerg Care. 2010 Nov;26(11):856-60; quiz 861-3. PMID: 21057285. [PubMed] [Read by QxMD]

Szwak K1, Sacchetti A. Droperidol use in pediatric emergency department patients. Pediatr Emerg Care. 2010 Apr;26(4):248-50. PMID: 20401969. [PubMed] [Read by QxMD]

Barzman DH1, DelBello MP, Forrester JJ, Keck PE Jr, Strakowski SM. A retrospective chart review of intramuscular ziprasidone for agitation in children and adolescents on psychiatric units: prospective studies are needed. J Child Adolesc Psychopharmacol. 2007 Aug;17(4):503-9. PMID: 17822344. [PubMed] [Read by QxMD]

Dorfman DH1, Kastner B. The use of restraint for pediatric psychiatric patients in emergency departments. Pediatr Emerg Care. 2004 Mar;20(3):151-6. PMID: 15094571. [PubMed] [Read by QxMD]

Sorrentino A1. Chemical restraints for the agitated, violent, or psychotic pediatric patient in the emergency department: controversies and recommendations. Curr Opin Pediatr. 2004 Apr;16(2):201-5. PMID: 15021203. [PubMed] [Read by QxMD]

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Breath Holding Spell

Breath Holding SyncopeKids do odd things.  Some of these “odd things” we attribute to exploring and learning about the world (ex, putting objects in nostrils, ears, or mouth). Other times the “odd conditions” are not quite explained, but are well described as affecting only children (ex, Febrile Seizures).  Since “oddities” often are not familiar, they can lead to significant parental, and even provider, concern.  Let us take a minute to digest a Morsel on a potentially scary, although generally benign “oddity:” Breath Holding Spells.

 

Breath Holding Spells: Basics

  • Episode during which a child cries excessively and, as a part of that, holds her/his breath (usually on exhalation).
    • May occur after a painful, frightening, or irritating event.
    • May also occur in association with being disciplined or becoming angry.
    • NOT INTENTIONAL (the child may be a “brat,” but he/she is not making him/herself pass out to prove a point!) [Goldman, 2015]
  • The breath holding episode may lead to syncopal event / loss of consciousness.
    • May be associated with Cyanosis 
    • May be associated with Pallor.
  • May even demonstrate seizure-like activity immediately upon loss of consciousness.
    • The period of unconsciousness is short-lived and spontaneously resolves.
    • There is no post-ictal period.
  • Mostly occurs in children 6 months to 18 months, but can occur up to 6 years of age.
  • Occur in ~5% of all children.

 

Breath Holding Spells: Reasonable Evaluation

  • Breath holding spells are defined by their benign course; however, …
  • Always consider worst-first in the ED.
    • ALTE (or BRUE as it is referred to now) and Seizure need to be considered.
    • Use your history and exam to help sort these out, as best you are able.
    • Be careful in the very young (neonates do not have breath holding spells!).
  •  ECG is reasonable
    • It is relatively inexpensive and a good screening tool (not perfect, but reasonable).
    • Look for evidence of dysrhythmia predisposing condition
    • Prolonged QTc Syndrome
      • Has a similar prevalence in patients with Breath Holding Spells as the general population. [Robinson, 2015]
      • May cause an event that mimics a breath holding spell, so reasonable to get ECG. [Robinson, 2015]
      • Some evidence of increased QT Dispersion (associated with increased risk of dysrhythmia and sudden death) in children with Breath Holding Spell. [Movahedian, 2016]
  • Consider checking hemoglobin level
    • Iron deficiency anemia is commonly found in these patients.  [Yilmaz, 2014]
    • If the child has good access to primary care, can defer this and iron studies to outpatient evaluation.
    • If poor access to care, may want to check formal CBC.
    • Treating iron deficiency anemia is also reasonable.
  • Do NOT need referral for cardiology or neurology outpatient evaluations. [Yilmaz, 2014]

 

References

Movahedian AH1, Heidarzadeh Arani M2, Motaharizad D3, Mousavi GA4, Mosayebi Z5. Evaluation of QT Dispersion in Children with Breath Holding Spells. Iran J Child Neurol. 2016 Winter;10(1):25-30. PMID: 27057184. [PubMed] [Read by QxMD]

Robinson JA1, Bos JM1,2, Etheridge SP3, Ackerman MJ1,4,2. Breath Holding Spells in Children with Long QT Syndrome. Congenit Heart Dis. 2015 Jul-Aug;10(4):354-61. PMID: 25916402. [PubMed] [Read by QxMD]

Goldman RD. Breath-holding spells in infants. Can Fam Physician. 2015 Feb;61(2):149-50. PMID: 25676645. [PubMed] [Read by QxMD]

Yilmaz U1, Doksoz O2, Celik T3, Akinci G4, Mese T5, Sevim Yilmaz T6. The value of neurologic and cardiologic assessment in breath holding spells. Pak J Med Sci. 2014 Jan;30(1):59-64. PMID: 24639832. [PubMed] [Read by QxMD]

Rathore G1, Larsen P, Fernandez C, Parakh M. Diverse presentation of breath holding spells: two case reports with literature review. Case Rep Neurol Med. 2013;2013:603190. PMID: 24191206. [PubMed] [Read by QxMD]

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Marfan Syndrome

Marfan SyndromeVacation can be so blissful! But, sometimes, that “EM mind” just won’t turn off.  Have you, like a thirsty vampire, ever glanced at someone’s neck and admired the large external jugular veins?  Do you pack your extra supply of suture material along with your bathing suit, just in case?  When you drive by the vacation spot’s local hospital, do you wonder what their resources are?  Well, if these things seem normal to you, then you, like me, are… slightly disturbed… and totally wed to being an emergency provider. Recently, I while floating on the lazy river, I saw a child who had obvious Marfan Syndrome features and my mind quickly sorted through some of the emergent conditions I should prepare myself to consider … again, … just in case.  So let’s quickly review what my mind came up with for Marfan Syndrome.

 

Marfan Syndrome: Basics

  • Marfan Syndrome is a disorder of the connective tissue.
  • It is inherited in a AUTOSOMAL DOMINANT fashion.
    • Frequency is at least 1 in 5,000 in the USA.
    • ~ 1/4th of cases are due to spontaneous genetic mutation.
    • There is no gender or ethnic preference or distinction.
  • Effected protein = Fibrillin-1
    • Important to the structure of connective tissue.
    • Involved in connective tissue throughout the body.
    • Normal fibrillin thought to inhibit growth of long bones and elastic fibers.

 

Marfan Syndrome: Clinical Features

  • Variance in the expression of the condition exists.
    • Not all patients will be affected the same.
    • Features may be present at birth or develop later.
      • May be diagnosed in adulthood.
      • Patients diagnosed earlier appear to have better clinical courses than those diagnosed later in life. [Willis, 2009]
  • Some of the clinical features are: [Kaemmerer, 2005; Pediatrics, 1996; Marfan.org]
    • Skeletal
      • Pecuts excavatum or Pecuts carinatum
      • Arm span:Height ratio >1.05
      • Thumb sign
        • Able to extend thumb beyond ulnar border of the hand when hand is flexed.
      • Wrist sign
        • Able to overlap the distal tips of the thumb and index finger when wrapped around contralateral wrist.
      • Scoliosis >20 degrees
      • Reduced extension of the elbows (<170 degrees)
      • High arched palate with crowding of the teeth
    • Cardiovascular
      • Aortic aneurysm
        • ~50-83% of kids with Marfan syndrome have dilation of the aortic root. [van Karnebeek, 2001]
      • Mitral valve prolapse
        • Diagnosed at a mean age of 9.7 years. [van Karnebeek, 2001]
      • Dilation of the main pulmonary artery
      • Calcification of the mitral annulus in patients < 40 years of age
      • Neonatal Marfans Syndrome presents with rapidly progressive and potentially fatal cardiovascular complications.
    • Ocular
      • Severe nearsightedness
      • Early glaucoma / cataracts
      • Flat cornea
    • Pulmonary
      • Apical blebs
      • Asthma / reactive airway disease
    • Nervous
      • Lumbosacral dural ectasia
    • Gastrointestinal
      • May develop colonic diverticula at early age. [Santin, 2009]
    • Dermatologic
      • Stretch marks (striae)

 

Marfan Syndrome: The Emergencies

  • Aortic dissection
    • Obviously, this is the most feared and greatest concern!
    • Fibrillin-1 is primarily expressed in the ascending aorta.
    • Dissections typically in the second decade of life.
  • There are other conditions that may require emergent evaluation and treatment:
    • Pneumothorax
      • Occurs in ~5% of patients
    • Cor Pulmonale
      • May develop due to severe and progressive chest wall deformities and scoliosis leading to mechanical restrictions.
    • Dislocation of the lens of the eye
      • ~50-80% of cases have lens dislocation.
      • Often the ophthalmologist may be the first to make the diagnosis.
    • Retinal detachment
      • Occurs in ~16% of cases.

Moral of the Morsel

  • Marfan syndrome affects many organ systems (not just aorta and bones).
  • The patient with Marfan syndrome who is dyspneic may be sort of breath due to a variety of issues including reactive airway disease and mechanical issues, but don’t overlook pneumothorax!
  • When your on vacation… close your eyes… otherwise you may start quizzing yourself on medical facts related to passersby’s pathology. 🙂

 

 

References

Singh MN1, Lacro RV2. Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications. Can J Cardiol. 2016 Jan;32(1):66-77. PMID: 26724512. [PubMed] [Read by QxMD]

Ekhomu O1, Naheed ZJ. Aortic Involvement in Pediatric Marfan syndrome: A Review. Pediatr Cardiol. 2015 Jun;36(5):887-95. PMID: 25669767. [PubMed] [Read by QxMD]

Miraldi Utz V1, Coussa RG2, Traboulsi EI3. Surgical management of lens subluxation in Marfan syndrome. J AAPOS. 2014 Apr;18(2):140-6. PMID: 24698610. [PubMed] [Read by QxMD]

Hofmann LJ1, Hetz SP. Pediatric bilateral spontaneous pneumothoraces in monozygotic twins. Pediatr Surg Int. 2012 Jul;28(7):745-9. PMID: 22543473. [PubMed] [Read by QxMD]

Morales-Chávez MC1, Rodríguez-López MV. Dental treatment of Marfan syndrome. With regard to a case. Med Oral Patol Oral Cir Bucal. 2010 Nov 1;15(6):e859-62. PMID: 20711146. [PubMed] [Read by QxMD]

Willis L1, Roosevelt GE, Yetman AT. Comparison of clinical characteristics and frequency of adverse outcomes in patients with Marfan syndrome diagnosed in adulthood versus childhood. Pediatr Cardiol. 2009 Apr;30(3):289-92. PMID: 19184183. [PubMed] [Read by QxMD]

Santin BJ1, Prasad V, Caniano DA. Colonic diverticulitis in adolescents: an index case and associated syndromes. Pediatr Surg Int. 2009 Oct;25(10):901-5. PMID: 19711089. [PubMed] [Read by QxMD]

Kaemmerer H1, Oechslin E, Seidel H, Neuhann T, Neuhann IM, Mayer HM, Hess J. Marfan syndrome: what internists and pediatric or adult cardiologists need to know. Expert Rev Cardiovasc Ther. 2005 Sep;3(5):891-909. PMID: 16181034. [PubMed] [Read by QxMD]

van Karnebeek CD1, Naeff MS, Mulder BJ, Hennekam RC, Offringa M. Natural history of cardiovascular manifestations in Marfan syndrome. Arch Dis Child. 2001 Feb;84(2):129-37. PMID: 11159287. [PubMed] [Read by QxMD]

[No authors listed] Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics. Pediatrics. 1996 Nov;98(5):978-82. PMID: 8909500. [PubMed] [Read by QxMD]

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