Paroxysmal kinesigenic dyskinesia: a diagnostic challenge.

A 10-year-old girl presented with a month long history of episodic limb movements. She had a normal neurological examination and after thorough investigation, she was thought to have possible tics. Anxiety was reported as being a trigger. Unusually, these 'tics' were not directly witnessed during hospital visits. Eighteen months after the initial presentation, the clinician observed dystonic posturing after the child stood up from having been seated during a consultation. Paroxysmal kinesigenic dyskinesia (PKD) was then suspected and confirmed on genetic testing. She was successfully treated with carbamazepine. In hindsight, it became apparent that her anxiety was related to a fear of uncontrolled movements, rather than it being a trigger. The abnormal involuntary movements in PKD are precipitated by sudden voluntary movement. Lack of recognition of this typical feature, normal examination and/or features such as coexisting anxiety can lead to misdiagnosis or delayed diagnosis of this easily treatable condition.

Disability and visual outcomes following suspected abusive head trauma in children under 2 years.

AIM: To report disability and visual outcomes following suspected abusive head trauma (AHT) in children under 2 years. METHODS: We present a retrospective case series (1995-2017) of children with suspected AHT aged ≤24 months. King's Outcome Score of Childhood Head Injury (KOSCHI) was used to assess disability outcomes at hospital discharge and at follow-up. The study used a retinal haemorrhage score (RHS) to record findings at presentation and a visual outcome score at follow-up. RESULTS: We included 44 children (median age 16 weeks). At presentation, 98% had a subdural haemorrhage and 93% had a retinal haemorrhage. At discharge, 61% had moderate-to-severe disability, and 34% a good recovery. A higher RHS was observed in those with more disability (r=-0.54, p=0.0002). At follow-up, 14% had a worse KOSCHI score (p=0.055). 35% children had visual impairment, including 9% with no functional vision. Those with poorer visual function had a higher RHS (r=0.53, p=0.003). 28% attended mainstream school without support; 50% were in foster care or had been adopted, 32% lived with birth mother and 18% with extended family. CONCLUSION: It is known that injuries from suspected AHT result in high levels of morbidity; our cohort showed significant rates of disability and visual impairment. Those with higher disability at discharge and poorer visual function showed more significant retinal changes. The extent of disability was not always apparent at hospital discharge, impacting on provision of prognostic information and targeted follow-up.