Learn about Patient 0: The case that mimics SIDS and other sudden unexpected deaths in children, perhaps leading to a major medical discovery.
A healthy child with recurrent nocturnal bearhug pain apneas. A novel SIDS mechanism.
Patient 0 told of being awakened from sleep one night when 7 years old in a painful bearhug and life-threatening inability to inhale . This was only his first episode. Otherwise healthy except for chronic mild intermittent diarrhea. He was convinced the first time it happened that his older brother had picked him up from behind in a tight bearhug (only to realize he was actually in bed alone). No panic. He felt he would have died had he not discovered then to breathe out to breathe in. Upon subsequent episodes, he used the same technique (rescue breaths, “like a pilot breathing in a spinning centrifuge”, he later commented).
Despite being over 1 year of age (beyond infancy), he had many risk factors overlapping with those identified in sudden infant death syndrome (SIDS): male, prone sleeper, rebreathing from loose blankets overhead and shoulders, nicotine exposure, chronic diarrhea, infantile reflux.
Identical episodes affected him up to age 17 (possibly as late as 23), occurring sporadically while sleeping in bed alone. Again, not panicked. He was unsure about how many episodes he had endured over his lifetime, because, incredibly, he learned to use the rescue breaths in his sleep. It is important to note these probably caused him to accrue adverse childhood experiences (ACEs). Despite his minimization of the effect the bearhug apneas had on him, there are telling details, given he didn’t tell anybody including his family or doctor at the time. It took 45 years and confidence in his mentor, Dr. JWC (ON, Canada) to finally open up and share the chilling story.
It is also noteworthy that this amazing “bearhug apnea/potential SIDS discovery” story surfaced only after the patient had engaged in trauma counselling. He later wrote about the experience in the lyrics to an original song.
The two key symptoms are bearhug pain and apnea. These were spontaneous in onset and recurred numerous times over at least a 10-year period, with complete resolution between episodes. The cramp-like pain encircled his ribs in a C-shaped distribution (sternal sparing). Complete inspiratory arrest had occurred. When he tried inhaling, it was met with equal and opposite resistance, just like a complete airway obstruction.
Generally, the causes of rib pain do not include complete apnea (e.g. soft tissue injuries, nerve pain = neuralgia or side stitch = pleurisy). Contrarily, the causes of apnea (or dyspnea = difficulty breathing) are not painful (e.g. from laryngospasm, bronchospasm or soft tissue airway obstructions). This allowed us to substantially narrow down the list of possibilities (differential diagnosis).
Differential diagnosis of Patient 0’s two key nocturnal symptoms (bearhug pain apneas):
(Underlined ones point to reputable sources of additional information)
Sleep paralysis: Aside from some chest pressure perhaps in some cases, it does not feature cramp pain nor complete apnea.
Night terrors: Child awakes in a panic, inconsolable at first. No bearhug pain, no apnea. Not able to problem solve (like Patient 0 did).
Panic attacks: Patient 0 had no history of panic attacks or anxiety and was able to problem solve immediately after waking, thus inconsistent with panic. Also, they do not feature the two key symptoms.
Breath holding spells: Typically occur in children 6 months to 4 years of age while awake, and triggered by strong emotions or pain (not sleep-induced). Patient 0 was sleeping each time he was affected, plus, he desperately wanted to breathe (and tried) but simply could not inspire (like a total airway obstruction). All are inconsistent with breath-holding.
Somatoform disorder: Unlikely. “Children often exhibit symptoms such as pain, gastrointestinal issues, fatigue, and neurological complaints, which are disproportionate to any medical findings. The disorder is associated with high healthcare utilization, frequent school absenteeism, and potential for unnecessary diagnostic procedures.” [OpenEvidence AI]. None of these occurred with Patient 0.
Factitious disorder: Possible. Defined as, “unconscious motivation to assume the sick role, with no clear cause”. In other words, Patient 0 may have feigned his symptoms inadvertently, perhaps as a stress reaction or subconscious attention-seeking (no gain; like malingering).
Malingering: Possible. Perhaps overt attention-seeking. Defined as, “intentional production or reporting of symptoms for personal gain”.
Child abuse: Possible. Although not a true diagnosis, it is important to consider with any atypical presentation in a child. Patient 0 denied a history of abuse.
Obstructive sleep apnea (OSA): Unlikely (not painful). Assumed to be caused by upper airway soft tissue obstructions (like enlarged tonsils), however, is questionable given people with tracheostomies still developed apneas and hypopneas (obstructed breaths). Regardless, OSA is not a painful condition. Also, Patient 0 had a preventative tonsillectomy at age 5.
Laryngospasm: Unlikely (not painful). Is an involuntary, sudden, and often severe spasm of the laryngeal muscles, leading to closure of the vocal cords typically under 10 sec. This results in an acute obstruction of the upper airway, causing symptoms such as dyspnea, stridor, and a sensation of choking or suffocation. Intense fear sometimes. Notably, pain is not associated with this condition.
Bronchospasm: Unlikely. Condition where the muscles lining the bronchi tighten and constrict, making it difficult to breathe. This can cause symptoms like wheezing, coughing, chest tightness, dyspnea and fatigue. Patient 0 had no history of this condition. Also, it is not painful.
Nocturnal seizures: Unlikely (not painful), however, apnea and muscle twitches might occur with seizure. Patient 0 had no history of tonic-clonic or focal seizures, nor any episodes of altered level of consciousness or cyanosis (both can be seen in seizure).
Bilateral intercostal muscle cramps: Novel diagnosis (no reports in the medical literature). However, would not cause apnea alone as these muscles are respiratory accessory muscles, RAM (to the diaphragm; the primary inspiratory muscle).
Bilateral diaphragm cramp-contracture: Novel diagnosis (no reports in the medical literature). This alone could cause bilateral rib pain because sensory nerves refer to the intercostal distribution in the ribs/lateral chest.
Note: For an apnea to occur, in general, there must be a total airway obstruction (obstructive apnea) or simultaneous failure of both the diaphragm and RAM (the inspiratory muscles)1. This could occur by lack of neural breathing signals (central apnea) or by mechanical failure of both muscle groups (peripheral apnea).
In a healthy child without a history of diaphragm paralysis or weakness, mechanical failure of diaphragm and RAM could occur by muscle cramp.
What else? Acute paralysis (nicotine toxicity, electrocutions), acute diaphragm myopathy (viral infection?).
This would explain the apnea and the pain. It would also explain the airway obstruction sensation.
Final diagnoses based on spontaneous recurrent nocturnal bilateral rib (bearhug) pain with complete inspiratory arrest apnea (relative degree of clinical suspicion):
Repeated electrical injuries (low)
Recurrent focal seizures (medium)
Panic attack, somatoform and fictitious disorders, malingering (medium)
Child abuse (medium)
Bilateral intercostal muscle cramps AND diaphragm cramp-contracture (high). Both must have occurred to explain the pain and respiratory arrest.
We are not the first group to hone in on the diaphragm as a cause of SIDS2. Based on over two years of literature reviews, communications and publishing peer-reviewed papers34, it is becoming clear that novel DCC (and intercostal cramps) is the cause of our patient’s symptoms. It is not a far stretch to infer it causes at least some SIDS cases.
Comments and Qs appreciated.
Lopes, J.M.; Muller, N.L.; Bryan, M.H.; Bryan, A.C. Synergistic behavior of inspiratory muscles after diaphragmatic fatigue in the newborn. J. Appl. Physiol. Respir. Environ. Exerc. Physiol. 1981, 51, 547–551. [Google Scholar] [CrossRef] [PubMed]
Siren PM, Siren MJ. Critical diaphragm failure in sudden infant death syndrome. Ups J Med Sci. 2011 May;116(2):115-23. PMID: 21222555.
Gebien DJ, Eisenhut M. Uncovering diaphragm cramp in SIDS and other sudden unexpected deaths. Diagnostics (Basel). 2024 Oct 18;14(20):2324. doi: 10.3390/diagnostics14202324. PMID: 39451647; PMCID: PMC11506607.
Goldwater PN, Gebien DJ. Metabolic acidosis and sudden infant death syndrome: overlooked data provides insight into SIDS pathogenesis. World J Pediatr. 2024 Dec 10. PMID: 39656413.