A rare case of systemic mastocytosis (SM) presented as an isolated skull lesion in a 10-year-old patient, according to a recent case report published in the Borneo Journal of Medical Sciences.
“Paediatric-onset systemic mastocytosis is a sporadic condition with distinctive and often atypical presentation compared to its adult counterpart,” the study authors stated.
Skull bone lesion revealed upon examination
The case involved a 10-year-old girl who sought medical assistance because of headaches, vomiting and one-sided vision loss. A more precise physical examination confirmed a compromise of the left lateral visual quadrant.
Read more about SM testing and diagnosis
To rule out a central nervous system (CNS) lesion, the attending physicians performed a computed tomography scan that revealed a bone lesion in the back side of the skull. This area corresponds to the cerebral visual center. A subsequent magnetic resonance imaging study revealed a brain mass in the same spot.
The physicians initially attributed the findings to an aggressive meningeal tumor that expanded into the skull bone. The patient underwent surgery to remove the tumor, and microscopic analysis of the sample revealed atypical mast cells with cellular markers suggestive of SM.
The symptoms resolved immediately after tumor removal but appeared again two months after the surgery. Imaging studies confirmed a recurrence of the tumor, which required a second surgery.
SM in pediatric patients
SM is mainly seen in adults and is considered rare in children. Most cases of mastocytosis in children correspond to cutaneous mastocytosis, with SM representing only 10% of cases. Most pediatric cases are asymptomatic, and aggressive mastocytosis in children is particularly rare.
The few case reports on the subject mainly were about mast cell neoplasm that presented as bone lesions.
“Conversely, our case report presents a tumor that fulfills the criteria for SM, despite lacking systemic involvement,” the study said. “Thus, we describe a unique case of a child with a solitary skull lesion as the sole identified manifestation of systemic mastocytosis.”
