BACKGROUND: Pfeiffer syndrome (PS) is a rare case in the Asian population, and only a few have been reported in Indonesia. This case report aims to spotlight the identification of PS with its correlated radiological imaging and distinguish it from other syndromes.
CASE REPORTS: The authors report a case of a 5-year-old girl with PS, manifested by brachyturricephally, broad thumbs and big toes, and medially deviated big toes. The patient also had proptosis, midface hypoplasia, and bilateral Syndactyly of the fingers and toes. This report confirms the thorough examination procedures and indexes to identify PS as a literature reference for the research of reported PS in Southeast Asian race patients and as one comprehensive source for identification using index figures.
CONCLUSION: This report provides a detailed radiology interpretation of PS on Southeast Asian race patients. Radiological findings can help in diagnosing and determining adequate treatment as needed.
Inflammatory myofibroblastic tumor (IMT) is a rare tumor that occurs at any age from childhood to late adulthood and may have a slight male predilection. A 7-year-old female presented with gross hematuria and a lump in the lower abdomen since 1 month prior to admission. The complaints were also accompanied by weight loss, abdominal pain and anemia. Ultrasound examination, Cystography, CT-Scan and MRI showed that mass in the bladder. Histopathology examination confirmed diagnosis for IMT, thus, radiology plays an important role in supporting histologic examination for diagnosis and evaluation of IMT.
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