Subject(s)
Cyanosis/etiology , Intraoperative Complications/physiopathology , Respiratory Mechanics/physiology , Anesthesia, General , Bulbar Palsy, Progressive/complications , Bulbar Palsy, Progressive/congenital , Bulbar Palsy, Progressive/physiopathology , Child, Preschool , Dysarthria/complications , Dysarthria/physiopathology , Humans , Intellectual Disability/complications , Intellectual Disability/physiopathology , Male , Sturge-Weber Syndrome/complications , Sturge-Weber Syndrome/physiopathology , Sublingual Gland/surgery , Submandibular Gland/surgeryABSTRACT
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.
Subject(s)
Bulbar Palsy, Progressive/pathology , Bulbar Palsy, Progressive/physiopathology , Adolescent , Adult , Apraxias/etiology , Bulbar Palsy, Progressive/congenital , Child , Child, Preschool , Deglutition Disorders/etiology , Developmental Disabilities/etiology , Dysarthria/etiology , Epilepsy/etiology , Female , Humans , Learning Disabilities/etiology , Male , SyndromeABSTRACT
A 5-year-old female was evaluated because of severe speech and expressive language delay. On examination, she could hardly speak and communicated through gestures. She manifested severe dysarthria and difficulty in protruding and moving her tongue laterally. She lacked coordination of the swallowing process, with drooling and an increased mental reflex. Her cognitive development was normal, and no associated neurologic dysfunction of the limbs was noted. On follow-up, the child experienced two episodes of seizures at 6 years of age. Magnetic resonance imaging of the brain demonstrated perisylvian and frontal polymicrogyria. Clinical and radiologic findings demonstrated a similarity and continuum between congenital suprabulbar paresis (Worster-Drought syndrome) and perisylvian syndrome.
Subject(s)
Bulbar Palsy, Progressive/congenital , Bulbar Palsy, Progressive/diagnosis , Frontal Lobe/pathology , Periaqueductal Gray/pathology , Speech Disorders/etiology , Bulbar Palsy, Progressive/classification , Child, Preschool , Diagnosis, Differential , Epilepsy/etiology , Female , Humans , Language Development Disorders/etiology , Magnetic Resonance Imaging , Speech Disorders/pathology , SyndromeABSTRACT
The congenital bilateral perisylvian syndrome is characterized by pseudobulbar palsy, moderate delay in mental and motor development and epilepsy. Three characteristic case stories are presented. Epileptic seizures are most frequently generalized: tonic, astatic, atypical absences and tonic-clonic seizures. Partial seizures are less frequent. Seizure control is often unsatisfactory. Neuroimaging demonstrates thickening of the cerebral cortex in the perisylvian area bilaterally; these changes together with the clinical picture establish the diagnosis. The etiology is unknown.
Subject(s)
Bulbar Palsy, Progressive , Cerebral Cortex/abnormalities , Epilepsy , Intellectual Disability , Psychomotor Disorders , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/physiopathology , Adolescent , Bulbar Palsy, Progressive/congenital , Bulbar Palsy, Progressive/diagnosis , Bulbar Palsy, Progressive/physiopathology , Cerebral Cortex/pathology , Child , Epilepsy/diagnosis , Epilepsy/physiopathology , Female , Humans , Intellectual Disability/diagnosis , Intellectual Disability/physiopathology , Male , Psychomotor Disorders/diagnosis , Psychomotor Disorders/physiopathology , Retrospective Studies , SyndromeABSTRACT
This report of a case study of an unusual child aims to set the use of electropalatography (EPG) within the wider context of general communication therapy. It concerns a child of 12 years, diagnosed as having congenital suprabulbar paresis (Worster-Drought syndrome) who presents with severe developmental dysarthria; his speech is unintelligible, with hypernasality and glottalised articulation. His baseline EPG assessment patterns show minimal tongue-to-palate contact for all lingual obstruents, although he can demonstrate some tongue movement for non-speech skills, and has a slow but near normal swallow pattern. EPG therapy was used for tongue movements, but was adversely affected by his velopharyngeal insufficiency.
Subject(s)
Biofeedback, Psychology , Bulbar Palsy, Progressive/congenital , Dysarthria/therapy , Speech Production Measurement , Child , Humans , Male , Palate/physiopathology , Syndrome , Tongue/physiopathologyABSTRACT
A girl developed progressive weakness of bulbar and ocular muscles starting before the age of two years. Electromyography revealed a widespread subclinical myopathy. An intercostal muscle biopsy showed complex abnormalities including occasional neurofilamentous accumulations and honeycomb-like membranous material in terminal axons. Endplates were small and some secondary synaptic clefts were abnormally deep. Acetylcholine receptors extended unusually deeply into the clefts of the junctional folds. Muscle fibres showed subsarcolemmal vacuolation at some places. This form of congenital oculo-bulbar palsy does not appear to have been described previously.
Subject(s)
Bulbar Palsy, Progressive/congenital , Ophthalmoplegia/congenital , Axons/ultrastructure , Biopsy , Blepharoptosis/congenital , Blepharoptosis/pathology , Bulbar Palsy, Progressive/pathology , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Immunoenzyme Techniques , Intercostal Muscles/innervation , Intercostal Muscles/pathology , Intermediate Filaments/ultrastructure , Microscopy, Electron , Neurologic Examination , Ophthalmoplegia/pathology , Receptors, Cholinergic/ultrastructureABSTRACT
A three generation family is described in which four members were found to have congenital suprabulbar paresis (Worster-Drought syndrome). It is suggested that some cases of congenital suprabulbar paresis are inherited as an autosomal dominant trait with variable expression and penetrance.
Subject(s)
Bulbar Palsy, Progressive/congenital , Bulbar Palsy, Progressive/genetics , Bulbar Palsy, Progressive/physiopathology , Child , Dysarthria/genetics , Facial Muscles/physiopathology , Humans , Intellectual Disability/genetics , Male , Mouth , Palate , Pedigree , Syndrome , TongueABSTRACT
A case of congenital suprabulbar paresis is reported. The associated severe dysphagia which presented soon after birth was shown by radiographic and cineradiographic studies to be due to cricopharyngeal achalasia. During four years of follow-up a clear tendency to spontaneous improvement was seen. It is therefore suggested that the condition may have a favorable outcome without resorting to surgical intervention.
