This is a ten-year-old boy, because of "fever, cough for 3 days" in the hospital hospital, blood routine found that the three lines (white blood cells, red blood cells, platelets) are low, at the same time mentally tired, liver, spleen, lymph nodes swollen, did bone marrow puncture, found that there is blood phagocytosis, so transferred to our hospital!
According to the clinical diagnosis and treatment ideas, basically the following diseases are considered: hemophagocytic syndrome, leukemia, immune pancytopenia, myelodysplastic syndrome...
The first consideration is hemophagocytic syndrome, but the diagnosis of this disease, it takes 8 conditions to meet 5 to diagnose, and now some conditions are not enough, such as: insufficient heat, ferritin, fibrinogen, lactate dehydrogenase, triglycerides, etc. there are no obvious abnormalities, so it is still difficult to diagnose, and more evidence is needed. In view of the severity of the disease, it is very serious.
Leukemia is also a key screening object, the clinical manifestations of leukemia vary in a thousand ways, but the change is inseparable, that is, the bone marrow has more naïve cells, but there is not a naïve cell in his bone marrow, so it can be excluded first.
Then, we looked for evidence of myelodysplastic syndrome, immune pancytopenia and other diseases, and also specifically looked for a very rare type of disease such as lysosomal storage disease (including Gaucher disease), which can be specious.
Hospitalized for several days, in addition to anti-infection, blood transfusion symptomatic treatment, other did not do, but the child's spirit has been much better, white blood cells, platelets and other indicators are also improving, but the diagnosis is still helpless.
The turning point was on a night shift.
That night shift, the doctor on duty told me: the child's blood oxygen saturation (blood oxygen) is only 92%, no matter how much oxygen can not go up, now seriously ill do not dare to stop, oxygen inhalation does not dare to stop, left and right.
When I went to see him, I found that my breathing and heart rate were normal, my hands and feet were very warm, my spirit was better than mine, and I was still reading a picture book of Tang poems, pointing to one of the poems and asking me: "Doctor, do you know what 'ten years of Yangzhou dream' means?" I kept thinking about his illness and casually said, "Probably referring to the author's past ten years, unclear about certain things, like a dream!" ”
Records show that the child's blood oxygen has been 92-94%, while the normal range is 95%-100%, his value is low, barely acceptable, low blood oxygen is also affected by other factors, such as: blood oxygen clip is not clipped well, the child loves to move, if we usually pursue the "almost" spirit, then this thing will pass.
I compared my blood oxygen to 98%, and then repeatedly measured him to be about 93%.
I have a vague feeling that maybe this is an important clue! These days the diagnosis can not be broken, has been to "fever, spleen, three series reduction" as a clue to analyze, this clue angle is multi-dimensional, the structure is scattered, the logic is not close; if the blood oxygen is low as a clue to analyze, all of a sudden from a multi-dimensional space, focus on a line, simplify too much content!
When I was a front-line doctor, I took the three bases many times, and there was a classic topic, that is, the four major reasons for cyanosis, the child could not talk about cyanosis, but if the blood oxygen was getting lower and lower, it was bound to appear, so the nature was similar! The classic four major causes of cyanosis (low blood oxygen) are: 1, respiratory diseases, 2. heart disease, 3. poor peripheral circulation, and 4. hemoglobin diseases.
When I was in the neonatal department, Director Wang told me a knowledge point that I remember vividly: when blood oxygen is low, if it is a respiratory problem, there will be an improvement in inhalation of oxygen, but there will be no improvement in heart problems.
At present, whether the child inhales oxygen or not, there is no improvement in blood oxygen, and there is no abnormality in respiratory examination, so respiratory problems are first ruled out. Heart problems may be possible, but his cardiac auscultation and ultrasound are not abnormal, so he does not support it.
Poor peripheral circulation, that is, cold hands and feet will also lead to low blood oxygen, but this is common sense, if a child's hands and feet are cold to the point of lack of oxygen, the general situation will be very poor, the most typical is high fever chills, that state scares many parents enough, and the child is now generally in good condition, no fever, obviously not matched.
Since the first three reasons do not match, the fourth major cause: hemoglobinopathies lead to low blood oxygen is very likely.
Normal hemoglobin has peptide chains and iron components, and if the peptide chain and iron are abnormal, they can lead to hypoxia, which is congenital and acquired.
The most common acquired nature is nitrite poisoning, and some drugs can also cause it, but after repeated questioning, the child has no history of nitrite poisoning and taking related drugs, so this reason does not exist.
Congenital hemoglobin abnormalities, the most famous is thalassemia, which can explain splenomegaly and anemia, but there will be no hypoxemia, and the routine performance of anemia is very typical, and there is a bottom at a glance. There is also a congenital methemoglobinemia, but after we consulted the data, we found that the disease was hypoxic to the point of cyanosis, accompanied by neurological abnormalities, and hemoglobin increased! As for whether there are other hemoglobin causes, relevant information cannot be found for the time being.
I thought that hypoxemia was an overgrown path, and you could find the Wizard of Oz along it, but after turning half a circle, I still found nothing. We began to doubt ourselves again: yes, how to consider fever, and how to explain the low white blood cells and platelets?
At this time, the mother provided an important clue: the child was hospitalized after birth, plus a physical examination into the kindergarten, the doctor said that there was anemia, but the reason was not clear, he thought that he was not eating well, plus his growth and development was still passable, he was not assured, that is, the child's anemia history was actually ten years!
At this time, the child suddenly interjected: I have been anemic for ten years without knowing what the reason is, just like the book says: ten years is like a dream! He reacted pretty fast!
Then the mother mentioned it casually, and the doctor also said that she had a large spleen.
These two clues give us a great enlightenment: since both mother and child have spleen, the child's problem should be genetic, and in the past it was not said that white blood cells and platelets were low, then now several key clues should be reclassified: not three lines of reduction, but persistent anemia, recently the two lines have decreased, they are not juxtaposed. At the same time, there are also clues: low blood oxygen, spleen.
Combing through these clues carefully, their logic is: hemoglobin abnormalities lead to anemia, low blood oxygen, and anemia leads to splenomegaly, which in turn engulfs platelets and white blood cells. And this fever was a complete accident.
Along this line of thought, I went to consult a lot of foreign literature, and continued to improve the examination, and finally determined that this is a dominant inherited hemoglobin variant, called Hb koln disease, because it is rare, so Chinese literature is not mentioned, even in the conventional hypoxia cause analysis, it is not mentioned!
Looking back on the diagnosis process of the disease, it gives us a lot of enlightenment: First, each disease is like a Rashomon, there are many clues, each one is hiding its true face, but there is always a door to the truth! Second, although this is a rare disease, but the test is still the most basic clinical thinking, if you are not familiar with the knowledge of the three basics, even if the truth is close, it is far away.
On the day of the follow-up consultation, I told the parents the truth about the disease, and at the same time told the child: "Ten years of a dream of Yangzhou" refers to the shallow cognition in the past, but there is another poem, called: "Mountains and rivers are doubtful and there is no way, willows and dark flowers are bright and another village", I hope he can understand!