A 19q13 microdeletion syndrome presenting with punding, frangophilia, hypermetamorphosis, frontal lobe and vermal hypoplasia, with depression misdiagnosed as schizophrenia, treated with mirtazapine.

Abstract

Chromosome 19q13 microdeletion syndrome is a rare genetic disorder characterized by prenatal and postnatal growth retardation, intellectual disability, expressive language impairment, ectodermal dysplasia, and slender habitus. We present a 20-year-old female with hypermetamorphosis, punding, and frangophilia, initially misdiagnosed as schizophrenia. A neuropsychiatric clinical reevaluation of the case led to a diagnosis of melancholic depression and severe intellectual developmental delay. Cerebral MRI revealed hypoplasia of the frontal lobes and cerebellar vermis. Genetic testing at the age of 6 years revealed a 46 XX karyotype with an interstitial deletion of the long arm of chromosome 19 - del(19)(q13.11q13.13). The specific genetic defect, together with the cerebral abnormalities, was considered to be the cause of the unusual psychopathology. Every case of psychosis requires a comprehensive medical workup, as schizophrenia is one of the most commonly mimicked syndromes in medicine.