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

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Tác giả: Josef Finsterer, João Gama Marques

Ngôn ngữ: eng

Ký hiệu phân loại: 575.48 +Growing points and layers

Thông tin xuất bản: England : Psychiatric genetics , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 749568

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.
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