Abstract
Complex Craniosynostosis in a patient with Kabuki Syndrome
Darisel Ventura Rodriguez, Marla C. Fortoul, Marissa Dallara, Brian Macias Martinez; Mentor: Dr. George Kamel, MD
Dr. Kiran C. Patel College of Allopathic Medicine, Nova Southeastern University, Davie, USA
Introduction: Kabuki syndrome (KS) is a rare genetic disorder that can affect multiple organ systems of the body. It commonly presents with various abnormalities including growth delays, abnormal facial features, intellectual disability, short stature, and skeletal abnormalities. KS is associated with two mutations, the more common being an autosomal dominant mutation in the KMT2D gene and less frequently an X-linked dominant mutation in the KDM6A gene. This case details a unique occurrence of abnormal head shape and craniosynostosis (CS) in a child with KS. Currently, there are only eight other studies discussing patients with both KS and CS. Furthermore, we introduce the term Complex Craniosynostosis in the presentation of this patient. This case report could have implications for the underdiagnosis of CS in patients with KS.
Methods: We described a 12-month-old male child with KS showing signs of posterior plagiocephaly and microcephaly who after a Head Computed Tomography is found to have metopic and sagittal synostosis. The patient is treated for craniosynostosis using a cranial vault reconstruction approach. In three months, the patient was placed on helmet therapy to correct his head asymmetry.
Outcomes: Our findings show head asymmetry correction following cranial vault reconstruction surgery and orthostatic helmet therapy.
Discussion: Our case report points towards a correlation of CS among KS patients which might suggest underdiagnosis of CS among these patients. X-rays or CT scans should be administered to patients with KS and microcephaly regardless of head symmetry. Lastly, patients with plagiocephaly benefit from adjuvant orthostatic treatment as seen in our patient.
