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CASE REPORT Table of Contents  
Ahead of print publication
Psychosis in a patient with tuberous sclerosis: A rare entity

1 Senior Resident, Department of Psychiatry, Post Graduate Institute of Medical Education and Research, Chandigarh, India
2 Junior Resident, Department of Psychiatry, Post Graduate Institute of Medical Education and Research, Chandigarh, India
3 Assistant Professor, Department of Psychiatry, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Date of Submission20-Mar-2022
Date of Acceptance04-May-2022
Date of Web Publication14-Jul-2022


Tuberous sclerosis complex (TSC) is a rare multisystemic genetic disorder which affects 1 in 6000–10,000 people worldwide. It usually affects the central nervous system and presents with multitude of symptoms such as seizures, skin abnormalities, intellectual disability, kidney disease, and behavioral problems. Psychosis has been rarely reported in patients with TSC. The Indian data on patients with TSC are sparse. We report a patient with TSC who presented with psychotic symptoms and discussed the management. Psychosis in patients with TSC is a rare association, and therefore, it should be assessed periodically while evaluating general health issues of patients with TSC.

Keywords: Association, psychosis, rare finding, tuberous sclerosis

How to cite this URL:
Chakravarty R, Chauhan D, Sahoo S. Psychosis in a patient with tuberous sclerosis: A rare entity. Arch Ment Health [Epub ahead of print] [cited 2023 May 28]. Available from: https://www.amhonline.org/preprintarticle.asp?id=351031

  Introduction Top

Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder which occurs due to mutations in TSC1 and TSC2 genes. In 85% of TSC, 31% have TSC1 mutation (hamartin gene) and 69% have TSC2 mutation (tuberin gene).[1],[2] More than 90% of diagnosed patients with tuberous sclerosis commonly present with various neuropsychiatric symptoms which are grouped as TSC-associated neuropsychiatric disorder, which incorporates autism spectrum disorder symptoms, intellectual and learning disabilities, psychiatric and behavioral problems. It is commonly characterized by the triad of adenoma sebaceum, epilepsy, and developmental delay.[3],[4] Incidence is approximated to be between 1:5000 and 1:10,000 live births.[3] Tuberous sclerosis is a rare condition, and its association with psychosis is even less frequently observed in general population. Various lesions in the developing brain, such as brain tubers, subependymal calcification, giant cell tumors, and retinal phakomas, might be the cause of various behavioral and psychotic symptoms.[5]

  Case Report Top

A 20-year-old male, known case of tuberous sclerosis presented to the psychiatry outpatient department with insidious onset of sleep disturbances, irritability, anger outbursts, and disorganized behavior. There is a history of multiple episodes of the left focal seizure with onset at 4 years of age which were controlled on carbamazepine. There were no further episodes of seizure after 7 years of age, and the patient is currently off medications. Family history is negative for any psychiatric illness. He had normal growth and development till the onset of seizure. Thereafter, he developed learning and social difficulties and also developed difficulty in speaking. On examination, there were adenoma sebaceum over cheeks [Figure 1], forehead, and nose. Examination of the eye showed retinal astrocytoma, a secondary epiretinal membrane along with mild temporal pallor around the left temporal nerve. On mental status examination, eye-to-eye contact was not maintained, the rate, amount, and volume of speech were reduced, and cognitive functions were impaired. On assessment, the mean IQ was found to be 50 suggesting a moderate level deficit in intellectual functioning.
Figure 1: Adenoma sebaceum

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Routine laboratory investigations (complete blood count, serum electrolytes, kidney function tests, liver function tests, and urine routine microscopy) were within normal limits. Contrast-enhanced computed tomography scan showed multiple small discrete subcentimeter calcified granulomas in the right frontal gray-white matter junction, left cerebellar hemisphere, frontoparietal periventricular white matter and epydyma and left basal ganglia [Figure 2]. Ultrasonography and two-dimensional echocardiogram were normal.
Figure 2: CT scan showed multiple small discrete subcentimeter calcified granulomas. CT: Computed tomography

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Treatment, outcome, and follow-ups

The patient was started on Quetiapine 50 mg which was gradually increased to 150 μg/day, and the patient started showing improvement over the next 2 weeks. After 2 months of continued treatment with quetiapine, caregivers reported decreased frequency of anger outbursts and adequate sleep and improvement in behavioral symptoms.

  Discussion Top

There are several reports of psychosis associated with tuberous sclerosis in adults.[6],[7],[8] Most commonly, it is a paranoid-hallucinatory type. Psychotic symptoms are not uncommon in children with tuberous sclerosis; one study on 90 children reported more than 50% having psychotic behavior.[9] Among other neuropsychiatric manifestations of tuberous sclerosis, hyperkinesis, and autistic symptoms are commonly reported. Many children with tuberous sclerosis have calcified lesions in the periventricular region of the brain, which is involved in the limbic system. These lesions are present from birth, and it is not clear whether they are implicated in the cognitive defects which lead to psychotic behavior.[9] The literature lacks specific treatment recommendations for psychosis in tuberous sclerosis, and antipsychotic should be chosen based on its propensity to cause seizure. In one study, risperidone was tried; however, it had to be discontinued due to the side effects when the dose was escalated.[10] Hence, we chose quetiapine as it helps in controlling aggression, psychotic symptoms and has a lesser propensity to cause seizures compared to clozapine, chlorpromazine, and other antipsychotics. Our case sheds light upon the fact that tuberous sclerosis can present with psychotic features in adolescent as well as in early adulthood, and clinician should have a high index of suspicion to detect the psychotic symptoms and manage them holistically by an effective liaison between the neurologist and psychiatrist.

Informed consent

Informed consent was taken from patient's parents for this case report. No information of any kind had been revealed with regard to patient's identification.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parents have given his consent for his images and other clinical information to be reported in the journal. The patient's parents understand that name and initials will not be published, and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Hsieh DT, Whiteway SL, Rohena LO, Thiele EA. Tuberous sclerosis complex: Five new things. Neurol Clin Pract 2016;6:339-47.  Back to cited text no. 1
Pokharel S, Jyotsana P, Maharjan RS, Singh R, Pandit K. Tuberous sclerosis complex-associated neuropsychiatric disorder (TAND) in a low-resource setting – From seizure to psychosis: A case report. Ann Med Surg (Lond) 2020;60:734-6.  Back to cited text no. 2
Marinelli T, Chen L, Kulkarni J. First episode psychosis in an adult patient with tuberous sclerosis. Aust N Z J Psychiatry 2016;50:292-3.  Back to cited text no. 3
Sedky K, Hughes T, Yusufzie K, Lippmann S. Tuberous sclerosis with psychosis. Psychosomatics 2003;44:521-2.  Back to cited text no. 4
Ghosh S, Chaudhury PK, Bhattacharya A, Praharaj SK. Tuberous sclerosis presenting as psychosis in an adolescent patient. J Neuropsychiatry Clin Neurosci 2014;26:E38.  Back to cited text no. 5
Herkert EE, Wald A, Romero O. Tuberous sclerosis and schizophrenia. Dis Nerv Syst 1972;33:439-45.  Back to cited text no. 6
Holschneider DP, Szuba MP. Capgras' syndrome and psychosis in a patient with tuberous sclerosis. J Neuropsychiatry Clin Neurosci 1992;4:352-3.  Back to cited text no. 7
Winnik HZ, Assael M. Tuberous sclerosis with accompanying symptoms of paranoid psychosis. The therapeutic results of a leucotomy. Eur Neurol 1956;131:151-62.  Back to cited text no. 8
Hunt A, Dennis J. Psychiatric disorder among children with tuberous sclerosis. Dev Med Child Neurol 1987;29:190-8.  Back to cited text no. 9
Muzykewicz DA, Newberry P, Danforth N, Halpern EF, Thiele EA. Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy Behav 2007;11:506-13.  Back to cited text no. 10

Correspondence Address:
Swapnajeet Sahoo,
Department of Psychiatry, Post Graduate Institute of Medical Education and Research, Chandigarh - 160 012
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/amh.amh_50_22


  [Figure 1], [Figure 2]


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