Case Report: A pediatric case of multifocal Streptococcus intermedius brain abscesses as the initial manifestation of SMAD4-associated juvenile polyposis–hereditary hemorrhagic telangiectasia overlap syndrome

Description

Nala Al-Khatib and six colleagues report a nine-year-old girl whose multiple brain abscesses were the first sign of a rare inherited vessel disorder. She arrived with five days of congestion, cough, and worsening headache during a COVID-19 infection, plus low oxygen and brief confusion. Brain imaging showed several ring-shaped lesions, and chest scans revealed abnormal lung vessels that let blood bypass the lung filter. A brain biopsy culture grew Streptococcus intermedius.

Gene sequencing then found a fresh SMAD4 variant, confirming an overlap syndrome that combines bowel polyps with the vessel disorder called HHT. The lung shunts explain how mouth bacteria reached her brain. The authors urge doctors to consider lung vessel malformations when a child's brain abscess has no clear source. They also argue for genetic testing in such cases even when the classic syndrome checklist is not met, since early recognition prevents brain complications.

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Source: https://europepmc.org/article/MED/PMC13647456