What is Causing These Spells?

Patient Presentation
A 35-day-old female referred to clinic for spells.
These began around 1 week of age occurring 1-2 times/day when the infant cried. The infant would become tachypneic for 2-3 seconds, have breath holding/apnea with no chest wall movement, then have blue lips hands and feet for another few seconds. The tachypnea then returns. There were no specific sounds made during the episodes The entire episode lasts less than 10 seconds.
The mother would stop these episodes by blowing in her face but denies shaking. Her eyes were open during these episodes without eye deviation, but arms and legs are stiff without any specific movements.
Overtime, the episodes are occurring 4-6 times per day for 10-20 seconds and were also occurring when the infant is asleep.
The infant is also head nodding in clusters which is not associated with any extremity movement or trunk position changes.
The past medical history shows a full-term infant born by vaginal delivery without complications. The infant was discharged home on time. She had regular care and was growing well.
The family history was non-contributory.
The review of systems is negative for any upper respiratory illness, eye changes, emesis, diarrhea. A day care provider has not had a recent pertussis vaccination.

The pertinent physical exam shows a well appearing female with normal vital signs. Weight was 4.6 kilogram (75%), head circumference was 38 centimeters (90%) with 99% saturation on room air.
HEENT shows no obvious dysmorphic features with an open anterior fontanelle and very mild left positional plagiocephaly.
Neuro exam revealed the general impression of increased jitteriness with handling and 6 beats of clonus bilaterally in the feet.
The rest of the examination was negative.
No episodes were seen in clinic.
The diagnosis was unclear but possible infantile spasms or other seizure, cardiac or metabolic abnormality were considered highly likely.
Sepsis was also considered but these spells been present for a while and was considered less likely. Gastroesophageal reflux was also considered but felt to be less critically important to evaluate than the other possibilities.
The infant was admitted to the hospital where during her clinical course she had evaluations for possible seizure (neurology consultation, video EEG, and brain MRI that were all negative), cardiac abnormalities (chest radiograph, 4 point blood pressures, and electrocardiogram were negative) and metabolic abnormalities (complete blood count, glucose, chemistries, calcium, phosphorus and magnesium were negative.).
As these evaluations were occurring, several episodes were seen by health care providers and were described as having respiratory difficulties that then caused the infant to cry and change posture including head nodding. No actual apnea was noted, but the infant did have severe respiratory distress during the episodes. The episodes resolved spontaneously within 10 seconds.
Otolaryngology was consulted and an endoscopy revealed the diagnosis of severe laryngomalacia type 1 and 2 was made. The patient was monitored and had 3 self-resolving episodes within 24 hours. She was discharged with an apnea monitor and followup with otolaryngology in 1 week.

Discussion
Spells, episodic or paroxysmal events can be very difficult to evaluate. They seem to occur randomly, often inconsistently, and are described by independent observers differently.
These descriptions also make it difficult to tell if the problem falls into one area versus another, such as a seizure versus apnea.
Not surprisingly the clinical signs and symptoms and the differential diagnoses of these events markedly overlap.
Many times it is necessary to start evaluating a patient for a potentially more life-threatening problem or several problems at once, while at the concurrently, gathering new information and re-evaluating the possible diagnoses.
Compounding this difficulty are the evaluation methods themselves, as many tests are invasive (ie bronchoscopy), expensive (ie computed tomography or magnetic resonance imagine) and can be imprecise (i.e. electroencephalogram).
Additionally, parents want answers and health care providers are dealing with the ambiguity. Many times an answer is found and treatment can be instituted, but sometimes with these events remain unsolved.

Learning Point

The differential diagnosis of episodic events includes:

  • Seizure
    • Epilepsy
    • Febrile seizure
    • Psychogenic seizure
    • General problems affecting the brain
      • Drugs/toxins

      • Fever
      • Hypertension
      • Hypoxia
      • Metabolic abnormalities
    • Specific problems affecting the brain
      • Stroke

      • Trauma
      • Tumor
  • Apnea and respiratory distress
  • Inattention, daydreaming
  • Gastroesophageal reflux disease
  • Migraine
  • Myoclonus
  • Narcolepsy
  • Night terrors, nightmares
  • Paroxysmal diakinesia
  • Rages
  • Shuddering
  • Syncope
  • Tics
  • Vertigo

The differential diagnosis of respiratory distress can be found here.

The differential diagnosis of apnea includes:

  • Central nervous system depression
    • Apparent life-threatening event/SIDS

    • Cerebral edema
    • Cerebral hemorrhage
    • Cerebral hypoxia
    • Congenital malformation
    • Drugs/toxins
    • Metabolic abnormalities
    • Meningoencephalitis
    • Prematurity including apnea and bradycardia
    • Tumor
  • Airway abnormalities
    • Bronchopulmonary dysplasia

    • Tracheolaryngomalacia
    • Tracheoesophageal fistula
    • Choanal stenosis or atresia
    • Obstructive sleep apnea
  • Asthma
  • Aspiration
    • Gastroesophageal reflux disease

    • Foreign body
  • Botulism
  • Cardiac arrhythmias
  • Congenital heart disease
  • Congestive heart failure
  • Child maltreatment
  • Guillian Barre syndrome
  • Infectious
    • Bronchiolitis

    • Croup
    • Epiglottis
    • Influenza
    • Necrotizing enterocolitis
    • Sepsis and bacteremia
    • Pertussis
    • Pneumonia
  • Metabolic abnormalities
    • Hyperammonemia

    • Hypoglycemia
    • Hypocalcemia
    • Hypernatremia
  • Primary alveolar hypoventilation
  • Seizures
  • Trauma
    • Head trauma

    • Hypothermia
    • Smoke inhalation

Questions for Further Discussion
1. With this patient, what was on your original differential diagnosis and how would you have managed this patient differently?
2. What is West Syndrome?
3. What are the different types of laryngomalacia?

Related Cases

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 SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

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

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

To view images related to this topic check Google Images.

Illingworth RS. Common Symptoms of Disease in Children. Blackwell Scientific Publications: Oxford. 1988:139-140.

Berkowitz C. Pediatrics A Primary Care Approach. WB Saunders Co. Philadelphia, PA. 1996:103,135.

Kotagal P, Costa M, Wyllie E, Wolgamuth B. Paroxysmal nonepileptic events in children and adolescents. Pediatrics. 2002 Oct;110(4):e46.

Tschudy MM, Arcara KM. The Harriet Lane Handbook. 19th. Edit. Elsevier/Mosby Publications: Philadelphia, PA. 2012:466, 511, 513.

Rocker JA. Pediatric Apnea. eMedicine.
Available from the Internet at http://emedicine.medscape.com/article/800032-overview (rev. 5/7/2012, cited 9/18/12).

ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital