Psychosis in Laurence-Moon Syndrome: A Case Report.

backgroundLaurence-Moon syndrome (LMS) is a rare autosomal recessive genetic disorder characterized by a combination of neurological, visual, and endocrine abnormalities. The coexistence of psychiatric disorders in LMS patients can complicate clinical management due to the intricate interplay between neurodevelopmental and psychiatric symptoms. A review of the literature failed to identify a similar case study published in major databases, including PubMed, highlighting the significance of this case report. Understanding these complexities is crucial for improving treatment strategies and patient outcomes. CASE PRESENTATION: A 35-year-old single Saudi male with LMS developed psychiatric symptoms, including social isolation and reduced family interaction since childhood, which worsened over the past two years as his vision deteriorated. The patient also exhibited elevated cholesterol levels and obesity, further complicating his treatment. Two years before seeking psychiatric help, he began experiencing severe auditory hallucinations, believing that his mother engaged in inappropriate activities, which led to increased fear, aggressive behavior, and neglect of basic needs. He was diagnosed with a psychotic disorder related to LMS and was initially treated with aripiprazole at a dose of 20 mg once daily, which significantly improved his symptoms but caused a resting tremor. When the dose was reduced to 10 mg daily, his psychotic symptoms returned, necessitating an increase to 15 mg daily, which stabilized his condition. A trial of escitalopram was ineffective and subsequently discontinued.

conclusionThis case study provides valuable insights into the manifestations and management of psychosis in patients with LMS. A multidisciplinary approach involving psychiatry, neurology, endocrinology, and metabolic care is essential for comprehensive treatment. We recommend genetic testing and counseling for the patient's family, particularly during family planning, with non-invasive prenatal testing (NIPT) for siblings after marriage. Further research is needed to develop targeted treatment strategies and explore the long-term outcomes of psychotropic medications in LMS, aiming to optimize treatment regimens and improve patient quality of life.