Patient: Female, 4-year-old
Final Diagnosis: Pfeiffer syndrome
Symptoms: Craniosynostosis • tracheal cartilage sleeves
Medication: —
Clinical Procedure: —
Specialty: Pathology • Pediatrics and Neonatology
Objective:
Rare disease
Background:
Pfeiffer syndrome (PS) is a fibroblast growth factor receptor (
FGFR
)-associated craniosynostosis syndrome, characterized by abnormally broad and medially deviated thumbs and great toes. Tracheal cartilage sleeve (TCS) is associated with several
FGFR
-associated craniosynostosis syndromes, including PS. TCS is an airway malformation in which the tracheal cartilage rings fuse with each other to form a sleeve of cartilage.
Case Report:
The patient was a 4-year-old girl with PS, TCS, and abnormal hyperplasia of non-fused intrapulmonary cartilages. The patient showed cranial dysplasia on prenatal ultrasonography. At birth, a cloverleaf skull in association with hydrocephalus and digital malformations was apparent. These findings were consistent with PS type 2. The diagnosis of PS type 2 was confirmed from a genetic test detecting a
FGFR2
mutation (Y340C). During the clinical course, she underwent several surgeries, including ventriculoperitoneal shunts, sequential cranioplasty surgeries, and tracheotomy due to upper airway abnormalities. At 4 years old, she died of multiple organ failure following aspiration pneumonia. The autopsy revealed that the tracheal cartilages had fused with each other, resulting in a condition called TCS, in which the cartilage rings and tracheal ligaments were absent. The lungs were poorly aerated, and the dilated bronchi had thickened walls surrounded by many cartilage fragments, mainly at the hilum. These cartilages tended to overlap at both ends, did not fuse, and were greatly altered in size and shape.
Conclusions:
We report the results of autopsy for PS with the first histopathological findings for the lungs and other visceral organs.
Background: The survival rate of anaplastic pleomorphic xanthoastrocytoma (APXA) is not well established due to the limited number of cases, but a few reports have suggested that the 5-year overall survival rate for APXA patients isaround 50%. We herein report an autopsy case of an APXA patient who survived 30 years after her rst surgery.Case presentation: A 37-year-old woman initially underwent total resection of a right temporal lobe tumor. The primary diagnosis at that time was grade II-III astrocytoma. Postoperative radio-chemotherapy was completed and follow-up was stopped after 22 years of no recurrence. However, 30 years after the initial treatment, the patient returned presenting with deterioration in consciousness. Magnetic resonance imaging revealed multiple heterogeneously enhanced tumors. A diagnosis of APXA was reached after a reevaluation of the initial resected specimens. She died four months after the recurrence. An autopsy revealed that the recurrence was glioblastoma multiforme.Conclusion: To our knowledge, this patient is the longest APXA survival case. Autopsy specimens did not indicate local recurrences, which suggested primary lesion control could be associated with survival.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.