“And later that day," Grace says, "I went to a CVS. I was in an aisle, pushing a shopping cart, and I just fell to the ground. I sat there on the ground, crying, thinking my life was over.”
This is the solution to the diagnostic mystery I posted Monday: http://www.boston.com/lifestyle/health/mysteries/2013/10/turning_yellow.html?comments=all
Dr. Edward Ryan, the director of Tropical Medicine at Massachusetts General Hospital, led the infectious disease team that consulted on Jean's case. After drawing his blood and preparing a smear on a glass slide, the team saw swarms of parasites had infected almost a third of his red blood cells (see figure in prior post).
Jean was diagnosed with severe malaria, caused by the parasite Plasmodium falciparum and spread by mosquitoes in many tropical countries. This disease moves rapidly, and if diagnosed late, can be fatal.
Several clues point to his diagnosis. The first is a high and recurrent fever. A patient returning from a malaria zone with fever should always be evaluated for this disease. American physicians frequently neglect to do so, especially since the disease may not announce itself until weeks after a person comes home from vacation.
The yellow color of the skin, called jaundice, occurs when the parasites destroy red blood cells and release a molecule called bilirubin, a bright yellow pigment that seeps from the circulation into the skin. The malaria parasite also causes tiny clots to form throughout the blood vessels; one by one, the organs may be starved of oxygen. The kidneys can fail. The brain, as it receives less oxygen, causes people to become drowsy and lethargic. The same tiny clots can shear platelets as they try to move through the circulation, causing their counts to fall, as they did in Jean.
Malaria kills 1 million people every year worldwide; the incidence of the disease in the United States is highest among travelers returning from abroad. Half of these travelers, like Jean, are visiting family and friends in a country they consider home. Although Jean's parents might have some immunity to the disease, their children may not. "This is not a case of bad parenting," Dr. Ryan says. "Instead, it's simply not on the radar screen for families or even primary care physicians. Families need to take appropriate precautions when traveling to malaria zones, which may include using mosquito netting, DEET-containing insect repellants, and medications."
The federal Centers for Disease Control and Prevention's website (http://wwwnc.cdc.gov/travel/destinations/list.htm) lists the necessary precautions people should consider before traveling to a particular country, even if it's a country that the family considers home.
Given Jean's progressive symptoms, the team had little time to waste. The doctors started Jean on intravenous quinidine, a drug that poisons the malaria parasite. They also called the CDC in Atlanta to ask for the most potent malaria medicine available in the United States - artemisinin. Unfortunately, because the Food and Drug Administration hasn't approved this drug, hospitals don't carry it. Instead, artemesinin is made by the military at Walter Reed National Military Medical Center and stockpiled by the CDC throughout the country.
In Jean's case, a shipment of the medicine was flown from JFK airport to Boston, reaching Jean when he most needed it. "In general, we try to get artemisinin to patients who need it within seven hours of the telephone call," says Paul Arguin, chief of the Domestic Response Unit in CDC's Malaria Branch. That's commendable for a drug that no company makes, that no hospital stocks, and that the FDA has not yet approved.
After receiving artemisinin, Jean's blood was cleared of the parasite. Had recognition or treatment of the disease been delayed longer, the outcome could have been far worse.
This is the case of a real patient seen in a Boston hospital. After reading the case, I invite you to think through the facts and try to determine a diagnosis in the comments section below. The answer will be posted Friday.
Jaundice, or the yellowing of the skin, usually first shows up in the whites of the eyes, or in the skin just underneath the tongue.
One winter, Jean came into the hospital emergency room with yellow skin. He had been a healthy and active 7-year-old-child. Recently, Jean had accompanied his family on a trip to their home country of Ghana. They visited relatives, ate home-cooked food, and drank local water. During their one-month stay, none of them felt anything was wrong.
Two weeks after Jean came back to the United States, he noticed his muscles had started to ache all over his body. One night, he became feverish, sweating through his clothes, his temperature rising to near 102 degrees Fahrenheit. His family brought him to his pediatrician, who discovered the child had a sore throat. Given the weeks of fever, sore throat, and body ache, the pediatrician suspected that Jean had a case of infectious mononucleosis, and started him on amoxicillin.
At first, Jean got better on the antibiotics. His fever came down and his muscle aches improved. But a couple of days later, his temperature climbed again. It had now been more than two weeks since they had returned from Ghana. Jean stopped eating; he could not bear to swallow the antibiotics. He was moaning in discomfort and felt so weak that he could not get out of bed. His family called for an ambulance and he was rushed to the hospital.
In the emergency room, his blood pressure was noted to be very low, and his heart was fluttering rapidly. The medical team started him on intravenous antibiotics. The boy drifted in and out of sleep, waking occasionally to nod his head. He was jaundiced: his skin had turned yellow. His platelets - the cells that prevent bleeding - were 10 times lower than normal.
The ER deemed him critically ill. A blood test (results shown below) confirmed his diagnosis. What was Jean's disease - and how would you treat him?
Results on blood smear:
Perrine Marcenac & Dan Milner, Harvard School of Public Health
This is the solution to the diagnostic mystery I posted Monday, in which a woman kept returning to the doctor with an apparent breast infection that wouldn't go away.
Dr. Lester and her colleague flipped through textbooks, searching for a solution to the puzzling case of the woman whose breast disease wouldn't go away. The patient had finally come to the surgeons and pathologist with a concern for an abscess, but Dr. Lester didn't find any signs of infection.
Instead, the pathologists found keratin, a protein made by a type of skin cell called a squamous cell, that gives skin its almost waterproof-like quality. Squamous cells and keratin are not found deep in the breast tissue, but Dr. Lester observed them lining the ducts that ordinarily carry milk. Why were there cells that looked like skin cells in the breast ducts?
The answer to this question is a grand mystery, one that goes further than the particulars of this case.FULL ENTRY
This is the conclusion to a case about a child diagnosed with ADHD I posted last week (http://www.boston.com/lifestyle/health/mysteries/2013/08/medicating_children_for_attention-deficit_hyperactivity_disorder_adhd.html).
The child's family and physician were making decisions about how to treat this disease. Many readers voted that starting an ADHD medication and behavioral therapy together might be a good way forward. Her doctor agrees with this approach.
"A lot of judgement happens the day I talk about starting medicines for young children," Dr. Chan says. Most parents have already tried numerous other routes, such as behavioral therapy which is frequently recommended first.
But behavioral therapy alone is hard to implement. "It's hard to access and there's not too many families who can actually carry it out," Chan says. "If you're a single parent working multiple jobs, its really hard to fit the time to take your child regularly. It's a huge time investment." J's parents tried the behavioral therapy route and they worked hard at it. But he wasn't improving.
Dr. Chan is more than familiar with the culture of fear that surrounds ADHD medications, but she feels these fears are overinflated. Consequently, children who might benefit from being on medicine get delayed treatments, which can have harmful social effects. "Children in his class already know that he's different, so they react to him differently. Children with ADHD start getting negative feedback from their peers early on."
Dr. Chan feels that this is one potential justification for starting medications early. "These medicines can help children get out of cycles of negative-feedback. And we're not condemning children to medicine for the rest of their lives. They can be started as a trial, and then stopped down the line."
Frustrated, tired, and hoping for a solution, J's parents listened to Dr. Chan and made the choice to begin medication. Within weeks, J's teachers noticed a startling difference. His behavior reports at school, which used to be mostly reds and yellows - a sign of inadequate performance - suddenly transformed into greens. His parents were stunned. "The effects of these medicines are fairly immediate," Chan says. "You can pretty much tell within a day or two if they are going to work."
But the key, Dr. Chan says, is not just using medications. Once a child has proven to benefit from an ADHD medication, the child is more likely to work together with a parent or a teacher to learn strategies that will lead to longer-lasting behavioral changes. Then, when the child is off medication, he retains these useful behavioral patterns.
The diagnosis, Dr. Chan stresses, must be accurate before starting a child on ADHD medications. Sometimes, other conditions masquerade as ADHD, such as insomnia, anxiety, depression, autism, seizures, lead poisoning, or even child abuse.
When I ask her if she feels that dramatic rise in ADHD rates is real, she pauses.
"I think overdiagnosis of ADHD occurs but so does underdiagnosis. There are children out there getting medications who shouldn't be, and there are children who are not receiving medical therapy who should be."
But despite this phenomenon, she agrees that its possible something else is going on in our society, something that is driving up ADHD rates in children. "We are requiring younger and younger kids to be in more structured academic environments. There's a lot of kids who are 3 or 4 or 5 years old who are just not ready to be quiet and do that kind of intensive work." Schools have curbed recess and made lunches 20 minutes long; at home, kids are exposed to high amounts of television, Ipads, and the internet providing continuous novel stimuli that might induce neurologic changes that foster shorter attention spans. "The jury is still out on this, but people are studying these kinds of environmental changes now," Chan says.
Not every child with ADHD will benefit from the medicine, or even the same kind of medicine. Every diagnosed child requires a unique combination of treatments, whether they are medications, behavioral therapy, school accomodation or special education services. And every medical decision is intensely personal, shaped by experiences of the child, parents, and the physician.
Recently, at a party, I met a couple raising their four year old daughter that made me realize how difficult diagnosis and treatment of ADHD in children must be, especially when childhood is a period of such intense activity, growth, and change. The young girl, I noticed, had a lot of energy and was running around the room in circles. During dinner, she sat in the corner with an Ipad glowing, the screen throwing colorful lights and sounds across her face. "The Ipad keeps her quiet," her mother whispered. But I worry, she went on, that she can't keep quiet without it. What will we do when she starts school?
Do you think she's normal? she asks. Or do you think she's developing a larger problem?
This is the case of a real patient. After reading the description of the case, I invite you to guess the patient's diagnosis in the comments section below. The answer will be posted Friday.