Boy has possible rare form of neurofibromatosis — which infections pose a threat?
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An 8-year-old boy was seen collecting money by dancing in the street in the Central African country of the Democratic Republic of the Congo, or DRC.
He seemed to be a very good dancer to the music that was playing, but it was noted that he had unusually large feet (Figures 1 and 2). His hands and head were also larger than normal, but his feet were typical of gigantism. He had numerous lightly colored patches of skin (café-au-lait spots) and superficial masses distributed throughout his body — that, along with the gigantism from growth hormone excess, strongly supports the diagnosis of a rare form of neurofibromatosis (von Recklinghausen disease).
What infectious disease poses the greatest threat to this child?
A. Bacterial sepsis
B. Cholera
C. HIV
D. Malaria
Answer and discussion:
This is a bit of a trick question. Although there may be some infections related to skin breakdown in a patient like this, children with von Recklinghausen disease (neurofibromatosis) are no more susceptible to infections than otherwise healthy children. The risk in this patient is living in the DRC, where malaria deaths are among the highest in the world. Therefore, the answer is D, malaria. I will leave reviewing neurofibromatosis to the reader.
I have diagnosed only two cases of malaria in my career, in spite of my travels with the U.S. Army. The first was in the 1980s, when I was stationed at Brooke Army Medical Center. A military family was relocating from a central African country to the Northwest U.S. As they were changing stations, they spent some time en route visiting relatives in San Antonio. Soon after arrival, both the father and the son sought evaluation for fever. The son was quickly diagnosed with malaria from a thick smear of blood showing the typical appearance of Plasmodium falciparum malaria (Figure 3), and the father was diagnosed at the same time. That case was featured in my May 2003 column.
The next case of malaria was a 16-year-old male student from Nigeria, who came to our children’s hospital ER in Temple, Texas, stating that he “had malaria again.” He went on to say that he has had malaria a couple of times before back home, which brings up the issue of immunity and the relatively few successes in the development of malaria vaccines. Essentially, the organism undergoes frequent changes in its surface antigens, evading immune memory and a successful vaccine. This helps explain recurrences. This case was published in the March 2017 issue of this column. For more reading about malaria, I would refer you to that column, which can be found here.
Malaria is most common in multiple sub-Saharan African countries, including the DRC. In fact, according to the 2021 WHO Malaria Report, the DRC accounts for 12% of the global burden of malaria, second only to Nigeria, which accounts for 27%. If and when you see a case of malaria, before making decisions on treatment, I would recommend communicating with someone at the CDC’s Division of Parasitic Diseases and Malaria. They can discuss the type of malaria you are likely seeing and the resistance pattern of the malaria your patient likely has based on the location of acquisition. The times I called with these two cases, their guidance was extremely helpful. The contact information below is for use by providers:
Telephone: 1-770-488-7788 or 1-855-856-4713 (toll free)
Telephone (after hours): 1-770-488-7100
Email: malaria@cdc.gov
Hours: 9 a.m. to 5 p.m. Eastern, Monday through Friday
Columnist comments
I want to thank this month’s contributing guest columnist, Larry Bethoney, MD, for this case. Dr. Bethoney hails from Boston and attended Tufts University College of Medicine. He is board certified in internal medicine (1978) as well as tropical medicine (1999). He has spent at least half his career working with the underprivileged; volunteering at the Navajo Reservation in the U.S., also in East Africa for 12 years, the South and Western Pacific islands and Southeast Asia. He encountered the 8-year-old child presented in this case while working in Zaire in 1989 (now the DRC). It takes a special person to practice truly altruistic, global medicine for the benefit of the underprivileged. Such is the person in Dr. Bethoney. Many of us may have gone on brief medical missions for teaching and/or medical care delivery to some remote place s for a week here and a week there, but it takes a truly dedicated practitioner of the Hippocratic Oath to dedicate so much to the benefit of so many. Although Dr. Bethoney is not a pediatrician, he undoubtedly knows much more about the diseases of the children in these remote areas than I can ever know, and I am honored to have him as a guest columnist.
Please keep in touch. I can be reached at jhbrien@aol.com.
Reference:
WHO. World malaria report 2021. https://www.who.int/publications/i/item/9789240040496. Accessed May 16, 2022.
For more information:
Brien is a member of the Healio Pediatrics and Infectious Disease News Editorial Boards, and an adjunct professor of pediatric infectious diseases at McLane Children's Hospital, Baylor Scott & White Health, in Temple, Texas. He can be reached at jhbrien@aol.com.