Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients.

Schizophrenia is a clinically and genetically heterogeneous disorder of unknown etiology. PDLIM5 variants have been linked to schizophrenia and other related neuropsychiatric disorders and upregulated in the brain of schizophrenia patients suggesting a possible pathogenic role in disease progression. The aim of this study is to examine the potential association of schizophrenia in Emirati patients with previously reported variants in PDLIM5, PICK1, NRG3 or DISC1 genes. Consequently, we found a secondary association between PDLIM5 variants and the paranoid subtype of schizophrenia in Emirati Arabs suggesting that PDLIM5 may represent a determinate/marker for schizophrenia subtype specification. However, no associations were found with variants in PICK1, NRG3 or DISC1 genes.

A case of Gorlin-Goltz syndrome presented with psychiatric features.

We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indicated pitted keratosis involving hands, callosities, and seborrheic dermatitis. There were numerous palmar pits, and Brain CT Head scan revealed extensive calcification along falx cerebri and around the cerebellar vermis. He had low (20 ng/L) vitamin D level and high parathyroid hormone level. The patient improved using antipsychotic medications and vitamin D supplementations for symptomatic management and was discharged with a plan for multispecialty outpatient follow-up. This case highlights the importance of considering rare organic etiologies in the differential diagnosis of patients presenting with psychiatric symptoms. This is of vital importance for early intervention to prevent complications and for better outcomes of the coexistent diseases.