Case ReportChildhood-Onset Schizophrenia Associated With Parkinsonism in a Patient With a Microdeletion of Chromosome 22
Section snippets
Report of Case
A 30-year-old man with a history of paranoid schizophrenia, which was diagnosed when he was 15 years old, was referred to our institution for an outpatient evaluation of psychiatric medications. The patient had severe developmental problems. His mother, during the second trimester of pregnancy, was exposed to an infection thought to be rubella. Delivery was uncomplicated, but during the first months of life, the patient refused to eat, was hypersomnolent, and failed to thrive. When the patient
Discussion
Our patient has chronic psychotic symptoms that are most consistent with schizophrenia. The prodromal symptoms of schizophrenia developed before puberty, whereas the specific symptoms of delusional thinking and hallucinations evolved during his early teenage years. Both his physical and his psychiatric symptoms seem to be related to his underlying genetic disorder, VCFS, associated with a microdeletion on chromosome 22.
Our patient's features are atypical of those in most patients with VCFS.
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Parkinson's disease associated with 22q11.2 deletion: Clinical characteristics and response to treatment
2017, Revue NeurologiqueCitation Excerpt :The 22q11.2DS, usually diagnosed in children, is rarely diagnosed in adults, in whom it usually manifests as a long history of psychiatric disorders such as schizophrenia [4,5]. Some of the first authors to report co-occurrences of early-onset Parkinson's disease (EOPD) and 22q11.2DS [4,6–8] searched for molecular links [6,9]. A few reports suggested an increased risk of EOPD with 22q11.2DS [10], which was confirmed in a recent article [11], where the authors reported that the risk of EOPD conferred by such deletions was increased by about 20 times.
Practical guidelines for managing adults with 22q11.2 deletion syndrome
2015, Genetics in MedicineCitation Excerpt :Spouses, siblings, and other relatives may also play an important role.6,15,64 There is accumulating evidence that 22q11.2DS is associated with an increased risk for early-onset (age <50 years) Parkinson disease.65,66,67 In one study the occurrence of Parkinson disease was significantly elevated over population expectations: 5.9% of 68 patients aged 36 to 64 years were diagnosed with Parkinson disease.67
Chromosome 22q11.2 deletion may contain a locus for recessive early-onset Parkinson's disease
2014, Parkinsonism and Related DisordersCitation Excerpt :A further screening of 225 EOPD patients (age at onset ≤50 years) identified one additional carrier [2], thus Butcher and colleagues stressed the necessity of screening for chromosome 22q11.2 deletions in patients with EOPD to validate their findings. Interestingly, over the last 15 years three patients with the chromosome 22q11.2 deletion have been independently identified who also present with early-onset parkinsonism (ages at onset were <27, 42 and <42 years respectively) [3–5]. Given these findings further screening of EOPD patients is suggested for the chromosome 22q11.2 deletion, under the assumption it increases disease risk in the hemizygous state.
The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan
2014, Biological PsychiatryCitation Excerpt :Finally, one notable and understudied aspect of the 22q11DS phenotype in older adults is that of early-onset Parkinson’s disease. This phenotype has now been described in multiple case reports (24,25), suggesting that dopaminergic disruption in 22q11DS may be relevant to the expression of both psychosis and Parkinson’s disease over the life span. Collectively, these findings illustrate the substantial heterogeneity in the 22q11DS neuropsychiatric phenotype, which may be linked, at least in part, to underlying sources of genetic variability.
Clozapine Use in 22q11.2 Deletion Syndrome: A Systematic Review of the Literature
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