Genes do not read DSM: a case report of tuberous sclerosis complex with multi- neuropsychiatric symptoms

Abstract

Abstract Background Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by widespread hamartomas in several organs. The variety of clinical manifestations makes it challenging to establish a definite clinical diagnosis. To our knowledge, there have been no previous reports of adult-onset TSC presenting with panic-like symptoms as the chief complaint and a combination of cognitive impairment and affective symptoms. Case Presentation: A 26-year-old unmarried Han Chinese female had suspicious panic-like symptoms over two years. There was persistent concern about the above symptoms. The depressive syndrome was followed a year ago. No aura, loss of consciousness, foaming at the mouth, motor paresthesia, or psychotic symptoms were reported in the course of the disease. The hospitalization was due to poor response to repeated outpatient visits. On physical examination after admission, several hypomelanotic macules were found on the patient's body. Auxiliary examinations suggestive of abnormalities include epileptic waves detected by electroencephalogram and scattered nodules detected by imagological examinations. The cognitive test indicated borderline intelligence. A rare genetic variation (TSC1 c.2625 + 367A > G) was also found. The patient was eventually diagnosed with tuberous sclerosis complex. After treatment with slow sodium channel blockers and serotonin and norepinephrine reuptake inhibitors, the focal seizure and affective symptoms were well controlled, while the cognitive function needed further long-term follow-up. Conclusion Clinicians should recognize that TSC is a multisystem disorder that may manifest multiple complaints. We report an adult-onset TSC with multi-neuropsychiatric symptoms and provide learnable points for clinicians from aspects of clinical manifestations, imaging, and genetics.