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2-month-old girl with chorioretinitis presents with small for gestational age, small head circumference
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A 2-month-old girl presents to her primary care physician with concerns for strabismus, and was referred to an ophthalmologist, who diagnosed her with chorioretinitis. Her past medical history is positive for being born at term after a normal pregnancy, labor and delivery; however, she was small for her gestational age, with a smaller-than-expected head circumference, compared to length and weight. However, she was small for her gestational age, with a smaller than expected head circumference compared with her length and weight.
Due to these concerns, her couplet care doctor sent blood for cytomegalovirus antibodies, revealing a positive IgG and a negative IgM and negative urine CMV PCR. The results reveal a positive IgG and a negative IgM and negative urine CMV PCR.
Examination reveals an active, normal-appearing, small baby with normal vital signs who is slightly developmentally delayed and whose head circumference is smaller than expected. The baby appears not to see, with strabismus, but no leukocoria is noted. She has no rash or suspicious skin lesions, and her liver and spleen size feel normal, and her heart sounds are normal.
Long bone radiographs are normal, and her head CT scan (Figure 1) reveals multiple, random intraparenchymal calcifications and mild hydrocephalus.
Case Discussion
This is a case of congenital toxoplasmosis, with the classic triad of chorioretinitis, cerebral calcifications and hydrocephalus, caused by Toxoplasma gondii, a protozoan that is an obligate intracellular parasite. Infections include tissue cysts that contain the bradyzoites and the oocysts containing the sporozoites that are found in the feces of cats, the definitive host for the sexual phase, that somehow find their way to your gut (use your imagination), and transform into tachyzoites.
The tachyzoites (Figure 2) can travel through the placenta to the fetus, resulting in congenital infection, affecting multiple organ systems, including the brain and eyes. If one sees the tachyzoites in the cerebrospinal fluid, as in Figure 3, the diagnosis is clear. However, that is not usually the case, and diagnosis relies on antibody testing of the blood and cerebrospinal fluid. This is best done under the expert guidance of the Palo Alto Foundation Toxoplasma Serology Lab, who will provide the specific instructions for collection and shipping of the samples.
Treatment usually includes pyrimethamine, sulfadiazine and folinic acid (to help offset the neutropenia toxicity of the pyrimethamine), with close monitoring for about 1 year. This is best done under the protocol and guidance of the research group at the University of Chicago, led by Rima McLeod, MD. Pyrimethamine, can be expensive. However, by participating in the protocol, the out-of-pocket cost to the patient is minimal. Also, the protocol includes paid trips to Chicago for evaluation near the beginning of therapy and a follow-up near the end. Outcomes vary widely, depending on the severity of the illness. Therefore, the patient should be followed by specialists in ophthalmology, neurology, audiology, and developmental pediatrics, depending on his or her needs.
Congenital CMV may result in the baby being small for gestational age, with a small head with brain calcifications, strabismus, poor vision, liver/spleen enlargement, neurosensory hearing loss and cutaneous lesions known as blueberry muffin lesions, which represent extramedullary hematopoiesis. The calcifications in the brain tend to be periventricular (Figure 3) but can appear in other areas as well. Diagnosis can be a challenge in a baby unless the newborn has the virus detected by PCR, usually in the urine or cerebrospinal fluid. Treatment is recommended for symptomatic neonates, with IV ganciclovir or oral valganciclovir, with recent recommendations for a total of 6 months of treatment for best outcomes.
Congenital rubella is almost unheard of in this country due to the high rate of immunizations. However, the effects on the developing fetus are well documented, including liver and spleen enlargement, small for gestational age, congenital cataracts, poor brain development, heart defects and blueberry muffin skin lesions, which are the most noteworthy. There’s no specific treatment, only prevention with immunization.
Lastly, congenital syphilis can cause some of the same problems as the other congenital infections (small for gestational age, premature delivery, marked desquamation, hepatosplenomegaly, mucocutaneous lesions and characteristic bone abnormalities), as featured in my September 2007 column. Congenital syphilis is a growing problem because the rate of syphilis is on the rise again. Management of babies born to mothers who may have syphilis can be confusing. This was addressed by the AAP with the development of an easy-to-follow algorithm that can be found in the Red Book. The other congenital infections noted above are also discussed in detail in the Red Book, which remains the best quick reference.
- For more information:
- James H. Brien, DO, is with the department of infectious diseases at McLane Children’s Hospital, Baylor Scott & White Health, Texas A&M College of Medicine in Temple, Texas. He also is a member of the Infectious Diseases in Children Editorial Board. Brien can be reached at: jhbrien@aol.com.
Disclosure: Brien reports no relevant financial disclosures.
D.A. Henderson Remembered
From time to time, I will remember someone who is no longer with us because of his or her significant contribution to medicine. D.A. Henderson, MD, died last August. Although his passing was noted by the Associated Press in some newspapers, I have a feeling that it went largely unnoticed by the greater medical community.
Source: Brien JH
Who was D.A. Henderson? Donald Henderson is widely credited for leading the task of eradicating smallpox from the face of the Earth, as declared by the WHO in 1980. However, the task began in the mid-1960s, and it came to define the legacy of Dr. Henderson’s, whose post-residency career began with CDC in 1955. It was a task that most believed was unachievable at the time. However, he had a tenacious personality that would not accept failure, and the energy of youth, which served him well in this monumental accomplishment. An incalculable number of lives have subsequently been saved through the elimination of this disease, which commonly killed up to one-third of those stricken with it.
Although Dr. Henderson was appropriately recognized, including earning the Presidential Medal of Freedom, he was not known for “tooting his own horn.” I had the honor of discovering this for myself when I had the occasion of meeting him at the Department of Health and Human Services in 2004. He was a true, and largely unsung, hero.