A Rare Presentation of Hyperphagia and Parasomnias Associated With Chromosome 4q Deletion: A Case Report

Background: Chromosome 4q deletion is a rare genetic disorder affecting an estimated 1 out of 100,000 people. It is characterized by microdeletions of the long arm of chromosome 4 with variable clinical presentations including heart defects, craniofacial and skeletal abnormalities, short stature, and developmental delays. While behavioral and psychiatric symptoms have been reported in a small number of patients with chromosome 4q deletions, none of these reports have described the hyperphagia or parasomnia symptoms that are presented in the current case. Case Presentation: A 7-year-old boy presented with a microdeletion of the long arm of chromosome 4 that resulted in psychiatric symptoms and neurodevelopmental delays. Notable manifestations included hyperphagia and parasomnias, in addition to aggression, functional encopresis, and speech delays. The boy's initial treatment was markedly delayed due to limited genetic testing at the age of 1 year, which led to a misdiagnosis of childhood aggression. This limited the care team involvement for neurologic evaluation and appropriate school interventions that would have otherwise been indicated. At inpatient admission, a multidisciplinary approach to diagnosis and treatment was adopted, encompassing pharmacological and behavioral interventions. The patient's attention-deficit/hyperactivity disorder (ADHD) was treated, and his individualized education plan included a functional behavioral assessment, as well as occupational therapy and speech and language services. Following a 4-day inpatient stay, the patient demonstrated a significant decrease in aggressive behaviors. Conclusion: Chromosome 4q deletion-related behaviors parallel those of children with autism spectrum disorder (ASD), and treatment is primarily focused on behavioral interventions. To successfully manage the psychiatric features of this complex condition, the involvement of a multidisciplinary team is recommended.