LEIGH'S SYNDROME: A Day in the Pediatric ED

 

It was an EMS notification of a 2 year old in cardiac arrest that stopped us in our tracks. The Pediatric ED was unusually quiet that morning when the EMS call came. Our hearts did a collective thump when we got the call.  

Some of the adult ED nurses rushed to the Peds ED to help. The rest of the ED staff called their families to check on their kids.  

The resuscitation room was crowded with personnel, four nurses, three doctors and a respiratory therapist. All trying to change destiny.

This poor boy should not die, too soon, too young, I thought. Did he choke on something; does he have a congenital disease? Kids are not supposed to come in cardiac arrest.  

From what I could see from my vantage point, he had thick hair and long-lashed eyes. His eyes were thankfully closed.A beautiful Indian baby face. The EMS had already intubated him at home, scooped him up from his crib, and brought him to our hospital.  

One of the nurses kept his rhythm as he maintained a one-hand compression on the child's sternum. The senior pediatric nurse's face was wet with unchecked tears. The pediatric attending's brow was creased in concentration as he managed the resuscitation efforts. Another nurse was checking the Braslow tape to guide with the medication doses.  

The cardiac monitor showed asystole. The orders came rushing: Epinephrine, continue CPR, Sodium bicarb, warmer, saline bolus, anything.  

"He has Leigh's syndrome.". The resident informed the team after he got this information from the mother. Everyone's shoulders sagged with the news.  

Leigh's syndrome is a rare neurological disorder that progresses rapidly in mental and psychomotor abilities, and eventually respiratory failure. It is a death sentence, just like some of the other congenital diseases that are brought to the PEDS ED every day.  

The triage nurse had escorted the mother to the next room while the doctors and nurses worked on her baby. There was nothing to do, but just sit with her as she closed her eyes in prayer. Her hands were on her mouth, as if she was trying not to break into hysterical tears; clinging to the hope that her son will survive.  

I relieved the triage nurse from her vigil with the mother. Her bleak eyes glistened as she looked hopefully for any information about her son. I could only say, "They're still taking care of your son."  

The mother's sari looked big on her; she must have just grabbed whatever she could. Her husband was just on his way in. The charge nurse gave instructions for the taxi driver-husband to just park at the ambulance ramp immediately.  

Her soft voice was tinged with worry. "He was just seen by the doctor two days ago, and he was doing well. He was sleeping two hours ago. Then when I looked at him, he was not breathing at all"... her voice trailed away as she stifled a sob.  

Even in the face of certain death, the PEDS staff would not give up., but all their efforts were unsuccessful. It seemed so much longer but it was just thirty minutes. At the end, the baby was pronounced dead.  

After the doctor broke the news to the parents, the mother rushed to her son's bed. From the room, we heard the plaintive keening of a grieving mother. The mother’s cries tore into our hearts, and even the paramedics were dabbing their eyes. The sound of sorrow stays with you for a long time.  

"This breaks my heart every time.", the seasoned pediatric nurse told me.

"I'm glad you're here so that I don't have to be here.", I said to her. I was being truthful. Pediatrics had always scared me.  

Emergency nurses are supposed to be the tough guys, but in my opinion, the nurses from Pediatrics, Oncology, and the Hospice are the toughest of them all.  

And in our ER, there was no time to dwell on that heart-wrenching scene. Just an hour later, a febrile baby came in and was worked up for sepsis. She lived.  

Just a few hours later, five kids were pulled out from their burning house. The fire started in the kitchen, but thankfully, all the kids (siblings and cousins) were fine, especially after an enterprising social worker brought in some lollipops. No smoke inhalation, no skin burns.  

The Pediatric ED staff does an incredible job every day, and as the nurse said, "It’s never easy to lose a child, even when it’s not our own.”  



Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults. Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase.  

Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function.

http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm