A 32-year-old male was admitted to the Psychiatry ward, Jigme Dorji Wangchuck National Referral Hospital with symptoms of severe depression. The history was obtained from the individual, his friends of the monastic school, and his family members who seemed reliable. His past psychiatry history revealed he had two episodes during which he exhibited elevated and irritable mood, disinhibition, increased talkativeness, becoming violent at home, and with increased energy and reduced need for sleep, suggestive of mania but was never evaluated by a psychiatrist. These episodes resolved spontaneously after about a month. He had normal inter-episodic functioning. There was no significant history of drug or alcohol use. He has a younger brother who has a psychiatric disorder suggestive of schizophrenia.
The mental state examination revealed prominent self-neglect, no eye contact, poverty of speech, tearfulness, and significant psychomotor retardation. His speech needed repeated prompting with low tone and volume, and the contents were reduced. His mood was low and the affect was depressed. There were no delusions or any perceptual disturbances. His cognitive function was intact and insight was partially intact. He reported passive suicidal ideations, but there were no past attempts. His physical examination, especially neurological examination, was unremarkable. A diagnosis of bipolar affective disorder and current episode of severe depression was made using the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5).
A CT scan of the brain of the index person revealed bilateral calcifications of the basal ganglia, thalamus, and cerebellum as indicated by arrows in Figure 1(a) and (b) respectively.
His blood calcium was normal. Despite the minimal decrease in vitamin D-25-hydroxyl level, the parathyroid hormone level was normal. Therefore, hypoparathyroidism was excluded. Other laboratory investigations such as thyroid, liver, and renal tests were normal. Infectious causes such as tuberculosis and human immunodeficiency virus infection were also excluded. Therefore, the primary cause of basal ganglia calcification could not be established. His blood workups are depicted in Table 1.
We traced the reports of his younger brother and found that he also had bilateral symmetrical calcifications of globus pallidus, bilateral dentate nuclei, and cerebellar folia with no known cause, and that he was being managed as schizophrenia. He has been on maintenance antipsychotics with risperidone 2 mg in the night and olanzapine 5 mg in the night. He lives with his parents and engages in household works under his parent's supervision.
Figure 2(a) and (b) shows the bilateral symmetrical calcifications of basal ganglia and cerebellum folia, respectively, of the index person's younger brother.
A diagnosis of Bipolar Affective Disorder Type I with current episode of severe depression secondary to FD was made. He improved with mood stabilizers (sodium valproate 200 mg in the morning and 400 mg in the night) and second-generation antipsychotics (risperidone 2 mg three times a day). He is in the monastic school at his village and continuing his monastic schooling and is being followed up at the local hospital of his village.
However, genetic testing of both the index and his brother was not carried out due to unavailability of the facility.