Hepatosplenomegaly in Infants: Causes and Next Steps

Hepatosplenomegaly in a six-month-old infant?

When my child was five months old, he was hospitalized for a urinary tract infection and abnormal liver function tests were discovered, with the AST and ALT levels approaching 400.
During the hospitalization for the urinary tract infection, the liver enzyme levels decreased.
However, two weeks after discharge, a follow-up check revealed that the levels had risen again to nearly 400.
The doctor stated that blood tests at that time ruled out viral hepatitis and CMV.
We switched hospitals, and another doctor personally reviewed an abdominal ultrasound, noting that my child had hepatosplenomegaly, with the liver enlarged to four fingerbreadths, possibly indicating CMV (although the previous hospital had said it was not).
In addition to arranging for blood tests, the doctor referred us to a pediatric genetics specialist, who did not provide much information.
My child, although diagnosed with moderate hearing loss during newborn screening, is currently six months old, has a good appetite and energy, shows no jaundice, appears normal, and does not have blue sclera or other developmental abnormalities.
He is slightly ahead of his peers in development, already crawling and sitting independently.
The pediatric genetics specialist ordered numerous tests, while the pediatric gastroenterologist indicated a high likelihood of CMV and prescribed liver-protective medication.

I would like to ask what we should do next.
Should we take our child for the relevant blood tests? Some of the blood tests require fasting for 12 hours, which is challenging because my child has never gone that long without food.
Would this affect the blood test results and the doctor's assessment? We run a pet shop at home; could this be related to toxoplasmosis? I have only found information online regarding maternal toxoplasmosis (which I tested negative for during pregnancy) and am unsure if my child could have contracted toxoplasmosis after birth, potentially causing hepatitis.
If so, what would be the treatment? Thank you for your response, doctor! Thank you!

claire, 0~9 year old female. Ask Date: 2009/11/14

Dr. Pei Rensheng reply Pediatrics

Dear Claire,
Hello! It has been discovered that liver function indices are abnormal, with GOT and GPT levels approaching four hundred, indicating the presence of hepatitis.
After excluding the possibilities of CMV, genetic metabolic diseases, and other viral hepatitis, Toxoplasmosis should also be considered.
Toxoplasmosis can be diagnosed through a blood test; fasting is not required for liver function tests (GOT and GPT), but if blood glucose and lipid tests are to be conducted, at least 8 hours of fasting is necessary.
Toxoplasmosis is a widely prevalent parasitic infection worldwide.
In Taiwan, about 20% of cats and dogs carry antibodies, indicating past infection.
For adults, the infection often presents with few symptoms, or only mild fatigue, fever, and headache, resembling a cold.
In some cases, it may more severely affect the retina, although this is less common.
The incubation period is approximately 4 to 21 days.
The oocysts or cysts of Toxoplasma can be found in cat feces or in raw pork and lamb (beef and chicken are less common).
Freezing at -12 degrees Celsius or cooking to 66 degrees Celsius can kill these parasites.
Humans can become infected by consuming undercooked meat or by coming into contact with cat feces containing the parasite's oocysts.
Eating contaminated vegetables can also lead to infection.
If Toxoplasmosis is confirmed, treatment involves pyrimethamine combined with sulfonamides and folic acid; azithromycin may also be used.
If it is not a Toxoplasma infection, regular blood tests to monitor liver function are necessary.
Please consult a pediatric hepatologist for further evaluation and treatment.
Wishing you health and happiness!
Sincerely,
Dr.
Ren-Sheng Pei
Chief of Pediatrics, Taoyuan Hospital, Department of Health

Reply Date: 2009/11/14

More Info

Hepatosplenomegaly in infants can be a complex condition that requires careful evaluation and management. In your case, your five-month-old child has been diagnosed with elevated liver function tests (GOT and GPT nearing 400) and has been found to have hepatosplenomegaly, which is the enlargement of both the liver and spleen. This condition can arise from various causes, and understanding these can help guide the next steps in management.

Understanding Hepatosplenomegaly
Hepatosplenomegaly can occur due to a variety of reasons, including:
1. Infections: Viral infections such as Cytomegalovirus (CMV) or Epstein-Barr virus can lead to liver inflammation and enlargement. Although previous tests ruled out viral hepatitis and CMV, it is still a possibility that warrants further investigation.

2. Metabolic Disorders: Conditions such as galactosemia, tyrosinemia, or other inherited metabolic disorders can cause liver dysfunction and enlargement. Given that your child has been referred to a genetics specialist, this suggests that metabolic disorders are being considered.

3. Hemolytic Anemia: Conditions that lead to increased breakdown of red blood cells can cause both splenomegaly and liver enlargement due to the increased workload on these organs.

4. Toxoplasmosis: As you mentioned, your family runs a pet store, and while congenital toxoplasmosis is typically contracted during pregnancy, it is worth considering if your child has been exposed postnatally.

5. Other Causes: Conditions such as biliary atresia, autoimmune hepatitis, or storage diseases can also lead to hepatosplenomegaly.

Next Steps
1. Further Testing: It is crucial to follow through with the recommended blood tests, even if some require fasting. While fasting can be challenging, it is essential for accurate results, especially for tests that assess metabolic function. If your child cannot fast for the required duration, discuss this with your healthcare provider; they may be able to adjust the testing schedule or provide alternative solutions.

2. Imaging Studies: Ultrasound or other imaging studies can provide valuable information about the liver and spleen's size and structure, helping to identify any abnormalities.

3. Genetic Testing: Since your child has been referred to a genetics specialist, it may be beneficial to pursue genetic testing to rule out inherited metabolic disorders.

4. Monitoring Symptoms: Keep a close eye on your child's overall health, including appetite, energy levels, and any signs of jaundice or abdominal discomfort. Documenting any changes can provide useful information for your healthcare team.

5. Consulting Specialists: Continue working with pediatric gastroenterologists and geneticists. They can provide targeted evaluations and management plans based on the findings from blood tests and imaging.

Regarding Toxoplasmosis
Toxoplasmosis is primarily a concern during pregnancy, but it can also be contracted postnatally through contact with infected cat feces or undercooked meat. If there is a suspicion of toxoplasmosis, specific blood tests can confirm the diagnosis. Treatment typically involves a combination of medications such as pyrimethamine and sulfadiazine, along with folinic acid to mitigate side effects.

Conclusion
In summary, the management of hepatosplenomegaly in infants requires a multidisciplinary approach, including pediatricians, gastroenterologists, and geneticists. It is essential to follow through with all recommended tests and consultations to determine the underlying cause of your child's condition. While the situation may seem daunting, early and thorough evaluation can lead to effective management and improved outcomes. Always communicate openly with your healthcare team about your concerns and observations, as they are your best resource in navigating this complex situation.

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