Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disease characterized by paralysis of certain facial muscles and epileptic seizures.

Signs and symptoms

Signs and symptoms of CBPS typically appear in infancy or at birth, but can appear later in childhood. These include facial

diplegia Diplegia, when used singularly, refers to paralysis affecting symmetrical parts of the body. This is different from hemiplegia which refers to spasticity restricted to one side of the body, paraplegia which refers to paralysis restricted to the ...

(paralysis on both sides), facial muscle spasms,

pseudobulbar palsy Pseudobulbar palsy is a medical condition characterized by the inability to control facial movements (such as chewing and speaking) and caused by a variety of neurological disorders. Patients experience difficulty chewing and swallowing, have in ...

, dysarthria (difficulty speaking), difficulty chewing, dysphagia (difficulty swallowing), epilepsy, and intellectual disability. Epileptic seizures in individuals with CBPS are different between individuals and can vary between episodes.

Pathophysiology

Though the underlying cause of CBPS is unknown, it is thought to arise from improper migration of

neuroblasts In vertebrates, a neuroblast or primitive nerve cell is a postmitotic cell that does not divide further, and which will develop into a neuron after a migration phase. In invertebrates such as ''Drosophila,'' neuroblasts are neural progenitor cells ...

(neuronal stem cells) to the cerebral cortex in the embryonic brain. This causes the layers of the cerebral cortex to not form properly, and too many small folds (

gyri In neuroanatomy, a gyrus (pl. gyri) is a ridge on the cerebral cortex. It is generally surrounded by one or more sulci (depressions or furrows; sg. ''sulcus''). Gyri and sulci create the folded appearance of the brain in humans and other ma ...

) to form on the surface of the brain. This condition is called bilateral perisylvian polymicrogyria. The sulci, deep grooves on the brain, may also not form correctly. Cranial nerves are affected and cause muscle paralysis and spasms in the face and throat.

Diagnosis

Several disorders may appear similar to CBPS and need to be distinguished in the process of diagnosing CBPS. These include

pachygyria Pachygyria (from the Greek "pachy" meaning "thick" or "fat" gyri) is a congenital malformation of the cerebral hemisphere. It results in unusually thick convolutions of the cerebral cortex. Typically, children have developmental delay and seizures, ...

, double cortex syndrome, and lissencephaly, all of which are classified along with CBPS as neuronal migration disorders. Diagnostic tests for CBPS include

electroencephalograms Electroencephalography (EEG) is a method to record an electrogram of the spontaneous electrical activity of the brain. The biosignals detected by EEG have been shown to represent the postsynaptic potentials of pyramidal neurons in the neocortex ...

CT scanning A computed tomography scan (CT scan; formerly called computed axial tomography scan or CAT scan) is a medical imaging technique used to obtain detailed internal images of the body. The personnel that perform CT scans are called radiographers ...

, and

magnetic resonance imaging Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio wave ...

Treatment

CBPS is commonly treated with anticonvulsant therapy to reduce seizures. Therapies include anticonvulsant drugs, adrenocorticotropic hormone therapy, and surgical therapy, including focal corticectomy and

callosotomy Corpus callosotomy is a palliative surgical procedure for the treatment of medically refractory epilepsy. In this procedure the corpus callosum is cut through in an effort to limit the spread of epileptic activity between the two halves of the ...

. Special education,

speech therapy Speech is a human vocal communication using language. Each language uses phonetic combinations of vowel and consonant sounds that form the sound of its words (that is, all English words sound different from all French words, even if they are th ...

, and

physical therapy Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient ...

are also used to help children with intellectual disability due to CBPS.

Epidemiology

Males and females have an equal chance of having CBPS.

References

{{Reflist Neuronal migration disorders Neurological disorders in children Congenital disorders of nervous system Rare syndromes