Summary Objective The true prevalence of epileptic seizures and epilepsy in 22q11.2 deletion syndrome (22q11.2DS) is unknown, because previous studies have relied on historical medical record review. Associations of epilepsy with other neurodevelopmental manifestations (eg, specific psychiatric diagnoses) remain unexplored. Methods The primary caregivers of 108 deletion carriers (mean age 13.6 years) and 60 control siblings (mean age 13.1 years) completed a validated epilepsy screening questionnaire. A subsample (n = 44) underwent a second assessment with interview, prolonged electroencephalography (EEG), and medical record and epileptologist review. Intelligence quotient (IQ), psychopathology, and other neurodevelopmental problems were examined using neurocognitive assessment and questionnaire/interview. Results Eleven percent (12/108) of deletion carriers had an epilepsy diagnosis (controls 0%, P = 0.004). Fifty‐seven of the remaining 96 deletion carriers (59.4%) had seizures or seizurelike symptoms (controls 13.3%, 8/60, P < 0.001). A febrile seizure was reported for 24.1% (26/107) of cases (controls 0%, P < 0.001). One deletion carrier with a clinical history of epilepsy was diagnosed with an additional type of unprovoked seizure during the second assessment. One deletion carrier was newly diagnosed with epilepsy, and two more with possible nonmotor absence seizures. A positive screen on the epilepsy questionnaire was more likely in deletion carriers with lower performance IQ (odds ratio [OR] 0.96, P = 0.018), attention‐deficit/hyperactivity disorder (ADHD) (OR 3.28, P = 0.021), autism symptoms (OR 3.86, P = 0.004), and indicative motor coordination disorder (OR 4.56, P = 0.021). Significance Even when accounting for deletion carriers diagnosed with epilepsy, reports of seizures and seizurelike symptoms are common. These may be “true” epileptic seizures in some cases, which are not recognized during routine clinical care. Febrile seizures were far more common in deletion carriers compared to known population risk. A propensity for seizures in 22q11.2DS was associated with cognitive impairment, psychopathology, and motor coordination problems. Future research is required to determine whether this reflects common neurobiologic risk pathways or is a consequence of recurrent seizures.

We report a high prevalence of dystonia in adult patients with HD, with worsening dystonia severity with increasing HD disease stage and motor disease duration. The recognition and management of dystonic symptoms in routine clinical practice will aid overall symptomatic treatment and functional improvement.

We write to report a rare case of unilateral cancer-associated retinopathy previously undocumented in the literature. Cancer-associated retinopathy is an uncommon paraneoplastic syndrome. It is characterised by retinal antigen autoantibodies causing rod and cone dysfunction and abnormal electroretinography findings with consequent progressive visual loss.Our patient, known to have a primary cervical intraepithelial neoplasia, presented with unilateral blurred vision as well as a disturbance in colour and night vision. Electroretinography findings of reduced a and b waves in the right eye, together with a fundoscopic appearance of a mottled retinal pigment epithelium, attenuated blood vessels and optic disc pallor were consistent with unilateral cancer-associated retinopathy. Posterior subtenon injections of triamcinolone were administered to control active disease. With periocular steroid injections, at 4 years, our patient's visual acuity remained relatively stable and her condition persisted strictly unilaterally. Cancer-associated retinopathy may be the first presenting sign of an underlying malignancy or may indicate its recurrence. Moreover, in patients with a diagnosed gynaecological malignancy, visual symptoms could reflect cancer-associated retinopathy. In our patient visual symptoms came secondary to the diagnosis of cancer.

This case of chronic inflammatory demyelinating polyneuropathy (CIDP) shows that a patient’s condition can evolve from the point of admission, gradually manifesting its underlying cause. Our patient’s initial presentation of backpain and lower limb weakness prompted investigations which ruled out compressive myelopathy and neuropathy. As upper limb weakness developed later, along with a more proximal and symmetrical pattern of lower limb weakness, the clinical picture suggested polyneuropathy. The diagnosis of CIDP became apparent only after numerous negative tests and nerve conduction studies which identified demyelination. Diagnosing CIDP enabled the commencement of definitive treatment which led to a good recovery.