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De novo KCNMA1 mutations in children with early‐onset paroxysmal dyskinesia and developmental delay

rect achalasia at age 2, frequent upper respiratory infections during childhood, type 1 diabetes (T1D) diagnosed at age 11, and surgical correction of scoliosis at age 12. His maternal grandfather was reported to have PD later in life. No other family members were reported to have PD. His general physical examination was notable for mild dysmorphic facial features without palatal abnormalities or cleft lip and right club foot with overfolded toes (Supporting Fig. 1). His neurological exam was significant for severe parkinsonism in the off state and mild-to-moderate dyskinesias in the on state (see Videos 1 and 2). A brain MRI was normal. Chromosomal microarray analysis (CMA) revealed a copy number change consistent with 22q11.2DS (Fig. 1). The most common manifestations of 22q11.2DS are congenital heart defects (77%), immune deficiency (77%), palatal defects (71%), facial dysmorphic features (most individuals), learning difficulties (82%), and hypocalcemia (49%). Other manifestations are skeletal malformations (44%), esophageal dysmotility (36%), renal anomaly (36%), psychosis (30%), and seizures. Our patient’s frequent upper respiratory infections, achalasia, scoliosis, facial features, and club foot are all consistent with 22q11.2DS, whereas he lacked the more severe features, including cardiac defect, palatal defect, and hypocalcemia, characteristic of the syndrome. His T1D may be a manifestation of 22q11.2DS, as has been previously reported. Of the 7 previously reported cases, 5 received antipsychotic medications before PD onset (Supporting Table 1). Our patient’s presentation at age 30 is the secondyoungest patient, and his parkinsonism did not begin while he was taking an antipsychotic medication, unlike the patient with the youngest onset at age 27. This case illustrates that individuals with 22q11.2DS without major congenital heart defects or cleft lip or palate may not be diagnosed until much later in life and early-onset PD may be part of their presentation. Recognizing 22q11.2DS, even in adults, is important because it may prompt further cardiac, immunological, and genetic screening evaluations. CMA should be considered as part of the evaluation for patients with early-onset PD and other features associated with 22q11.2DS.