Congenital suprabulbar palsy: a distinct clinical syndrome of heterogeneous aetiology

Abstract

Congenital suprabulbar palsy is clinically characterized by problems of feeding, swallowing, drooling, and dysarthria. Epilepsy, delayed motor, cognitive, and language development, as well as learning disabilities* may co‐exist. Aetiology of the syndrome is diverse, yet studies often attribute it to specific entities. We report on nine patients (seven males, two females; age range 2 to 20 years), highlighting the heterogeneous causes of suprabulbar palsy using neuroimaging and emphasizing the need for systematic investigation for early detection and management. We identified patients with symmetrical infarcts involving the perisylvian region, apart from already‐recognized conditions, such as congenital bilateral perisylvian syndrome (CBPS; a neuronal migration disorder) and Worster‐Drought syndrome. CBPS simulates Foix‐Chavany‐Marie syndrome in adults because of staged stroke but differs in many respects. Anoxia or ischemia to the developing brain could be a common plausible aetiology. Studies with large groups of patients are required to differentiate the various subgroups and identify essential criteria for diagnosis.

Congenital multiple cranial neuropathies: Relevance of orofacial electromyography in infants

“…Electrodiagnostic examination of paired cranial nerves and orofacial muscles is a method for assessing congenital facial weakness, orofacial malformations, and dysphagia. Because underlying disorders have numerous causes and varying degrees of severity, the diagnoses and prognoses of bulbar dysfunction are not yet clearly defined . Orofacial sensorimotor function is not easy to assess clinically in newborn and young infants, who have small brainstem structures and cranial nerves that are challenging to study using MRI.…”

Worster‐Drought syndrome: poorly recognized despite severe and persistent difficulties with feeding and speech

“…The underlying abnormality is thought to be in the perisylvian cortex (congenital bilateral perisylvian polymicrogyria [CBPP] occurs in around 15/100 of affected individuals 5 ) and may be a continuum of bilateral perisylvian syndromes 6,7 . A genetic aetiology appears to be important in about 15/100 8 of cases and there is evidence of a vascular aetiology in some individuals 3,8 …”

“…WDS was originally defined as congenital suprabulbar paresis, 1 without specifying the level of lesion. However, the term has been used for acquired lesions, 2 functional epileptogenic variants, 2 and even isolated dysarthria 3 . There are only a few retrospective case series, if the term is confined to congenital spastic paresis (great difficulty using bulbar muscles with no wasting or fasciculation; exaggerated jaw jerk) causing permanent bulbar dysfunction, resulting in disorders of saliva control, swallowing, airway protection, feeding, and speech 1,4,5 .…”

Experience of using electromyography of the genioglossus in the investigation of paediatric dysphagia

“…In the remaining six, the gEMG study was non‐neurogenic and the surgical decision was based primarily on the clinical significance of bulbar dysfunction. The reason for this inconsistency is thought to be the presence ofsuprabulbar or bulbar disorder of the central coordination centre which would not present abnormalities on gEMG 13 …”