Rubinstein-Taybi syndrome is characterized by a broad thumb and bulbous hallux, short stature, intellectual disability and distinctive facial features [1]. It is a rare neuro-developmental disorder with a reported prevalence of 1 in 1,25,000 births [2]. Psychosis in RTS is highly infrequent with only a few scattered case reports [3]. A comprehensive literature search yielded only one case report of non-affective psychosis [4].

A 15-year-old girl was admitted to our department with spells of irritability and aggression for last 20 days. These episodes were accompanied by abnormal behavior like singing aloud and pacing. She appeared fearful, and was clinging to her mother. Upon detailed evaluation, there were no well- formed delusions and no clear-cut affective component could be distinguished. Therefore, a diagnosis of non-affective psychosis (Hallucinatory psychosis; ICD F28) was made. Behavioral problems were rated on the Brief Psychiatric Rating scale for Children (BPRS-C) on admission and 6 weeks later on follow-up.

Investigations revealed normocytic hypochromic anemia. MRI spine showed thoraco-lumbar scoliosis and decreased vertebral height. Intelligence Quotient on Binet-Kamat test gave a score of 57, indicating mild intellectual disability. Cytogenetic analysis by Giemsa showed a normal karyotype (46, XX). The patient was started on Quetiapine and recorded a reduction of more than 50% in BPRS-C scores at 6 weeks on a dose of 50 mg, indicating significant response to therapy.

The association of psychosis with Rubinstein-Taybi syndrome is rare and only a handful of cases have been reported in literature. A novel study from Japan determined that variation in the promoter region of the same CREB gene may modify gene expression and contribute to schizophrenic psychosis [5]. The rare co-occurrence of psychosis in this syndrome thus opens up a narrow window of opportunity to identify the common genetic changes that result in this combined phenotypic manifestation. This, in turn, may generate fresh insight into the genetic markers of childhood psychosis.

Funding: None; Competing interest: None stated.

1. Hennekam RC, Stevens CA, Van de Kamp JJ. Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Suppl. 1990;6:56-64.

2. Hennekam RC. Rubinstein-Taybi Syndrome. Eur J Hum Genet. 2006;14:981-5.

3. Hellings JA, Hossaer S, Martin JK, Baratang RR. Psychopathology, GABA and the Rubinstein-Taybi Syndrome: A review and case study. Am J Med Genet. 2002;114:190-5.

4. Nayak RB, Lakshmappa A, Patil NM, Chate SS, Somashekar L. Rubinstein-Taybi syndrome with psychosis. Indian J Psychol Med. 2012;34:184-6.