Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy : Review of 47 cases

• Published in: Brain (London, England : 1878) England : 1878), 2000-10, Vol.123 (10), p.2160-2170
• Main Authors: CLARK, Maria, CARR, Lucinda, REILLY, Sheena, NEVILLE, Brian G. R
• Format: Article
• Language: English
• Subjects: Adolescent; Apnea - diagnosis; Apnea - etiology; Apraxias - diagnosis; Apraxias - etiology; Biological and medical sciences; Bulbar Palsy, Progressive - classification; Bulbar Palsy, Progressive - diagnosis; Bulbar Palsy, Progressive - etiology; Cerebral Cortex; Child; Child, Preschool; Cognition; Epilepsy - diagnosis; Epilepsy - etiology; Facies; Feeding Behavior; Female; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Infant; Infant, Newborn; Male; Medical sciences; Mental Disorders - diagnosis; Mental Disorders - etiology; Nervous system (semeiology, syndromes); Neurology; Quadriplegia - classification; Quadriplegia - diagnosis; Quadriplegia - etiology; Retrospective Studies; Speech Disorders - diagnosis; Speech Disorders - etiology
• ISSN: 0006-8950; 1460-2156; 1460-2156
• DOI: 10.1093/brain/123.10.2160

A retrospective case-note analysis was undertaken of 47 children with a congenital upper motor neurone bulbar palsy (excluding pure speech dyspraxia) to clarify the phenotype of Worster-Drought syndrome (WDS) and to record its associated features and complications. The results revealed that the study children had significant bulbar problems (with 80% still needing a modified diet and a similar number using augmentative communication methods at last review). There were also high rates of predictable bulbar complications (86% had dribbling, 60% had glue ear, gastro-oesophageal reflux in 40%, history of poor nutrition in 40% and aspiration in 40%). Most of the children had additional complex impairments (91% had mild pyramidal tetraplegia, 81% learning difficulties, 60% congenital defects, 41% neuropsychiatric problems and 28% epilepsy). Over half of the children had significant medical problems in the first year, but mean age at diagnosis was 6 years. There were no obvious causes in pregnancy or birth. Six children had a family history of WDS and 32% (12/37) had abnormal neuroimaging including five with bilateral perisylvian polymicrogyria. In our experience, WDS is not uncommon, is relatively easily diagnosed and is crucial not to miss as the management of these children's multiple impairments is complex and requires a careful team approach. WDS falls clearly within the cerebral palsies as a syndrome that includes motor impairment arising from static damage to the brain in early life. The common presence of cognitive, behavioural and seizure impairments strongly supports the cerebral cortical (presumably perisylvian) localization. Its core elements are a suprabulbar paresis, a mild spastic tetraplegia and a significant excess of cognitive and behavioural impairments and epilepsy. The complete overlap in phenotype between WDS and the bilateral perisylvian syndrome leads us to propose that they are the same condition. WDS is startlingly absent from epidemiological studies of the cerebral palsies and rarely diagnosed, presumably because of lack of clinical awareness of the condition and lack of major gross motor impairments.