ABSTRACT
Inflammatory myofibroblastic tumors (IMTs) represent rare neoplasms, particularly infrequent in the pediatric skull. We present a novel case of a newborn male with a 5 cm right temporal mass and discuss current diagnostic and treatment options for IMTs. A multidisciplinary effort to surgically remove the lesion was successful, and the patient's skull defect healed without neurological deficits. The etiology of IMTs remains elusive, with proposed associations with chromosomal mutations in the anaplastic lymphoma kinase (ALK) gene. Surgical excision remains the primary treatment for IMTs. Promising pharmacological treatments, like Crizotinib, warrant further research into understanding potential alternatives in IMT management.
ABSTRACT
BACKGROUND: Moya moya type vasculopathy (MMV) is a rare disorder in which there is narrowing of bilateral intracranial carotid arteries (Scott and Smith in New Engl J Med 360(12):1226-1237, 2009). MECP2 duplication syndrome (MDS) is a rare genetic disorder that is caused by genetic duplications on Xq28 chromosome (Expanding the clinical picture of the MECP2 duplication syndrome. (Lim et al. in Clin Genet 91(4):557-563, 2017). Both disorders are rare and have not been described together in association. CASE PRESENTATION: Interestingly, we present a child with both MDS and MMV. Upon genetic testing, there was found to be a large, de novo duplication sequence in the patient's genome. Possible correlation between our patient's extensive genetic mutation and MMV has been evaluated. CONCLUSION: Our literature search disclosed no other known patients with both MDS and MMV. Patients with MDS should be monitored carefully for signs or symptoms of vasculopathy.
