Attention-Deficit/Hyperactivity Disorder in a Patient with Lujan-Fryns Syndrome: A Case Report

Abstract

Introduction: Lujan-Fryns syndrome (LFS), a rare genetic anomaly first described in 1984, is characterized by a unique constellation of clinical features primarily attributed to mutations in the MED12 gene. These features include intellectual disability, behavioral complexities, and distinct somatic attributes. Although formal psychiatric criteria are lacking, numerous case studies have revealed a co-occurrence of LFS with psychological manifestations, including attention-deficit/hyperactivity disorder (ADHD). This case report explores the intricate relationship between LFS and ADHD, shedding light on potential diagnostic and therapeutic strategies.

Case Presentation: We present the clinical profile of a 13-year-old male diagnosed with LFS, who exhibited hyperactivity and inattention symptoms, leading to a diagnosis of ADHD. The patient’s history included full-term birth, developmental delays, and speech challenges, necessitating special education. Treatment for ADHD included methylphenidate extended-release, behavioral modification techniques, and clonidine, resulting in significant symptom improvement. Marfanoid features were present, and LFS was confirmed through genetic testing. Comprehensive care with a multi-disciplinary approach addressed the associated medical concerns.

Conclusion: Recognizing and addressing the co-occurrence of LFS and ADHD is crucial. This complex interplay presents diagnostic and therapeutic challenges requiring a multidisciplinary approach. The absence of specific medications for LFS-associated ADHD highlights the need for customized treatments. This case report enhances our understanding of their relationship, paving the way for further research to improve clinical care for individuals with both these conditions.