Syringobulbia - Clinicals, Diagnosis, and Management

Neurology

Clinicals - History

Fact Explanation
Introduction Syringobulbia is a rare disease entity which is intimately related with syringomyelia. Syringobulbia is the formation of fluid filled cavity or so called syrinx in the medulla. whereas the syringomyelia is the similar occurrence in the spinal cord. The occurrence of syringobulbia can be due to the extension of syringomyelia, but it also occurs as an isolated illness. There would be a slit like gap in lower brain stem causing compression and related cranial nerve palsies. This syringobulbia cleft is found in investigations and in autopsy. The entire atiology for the illness is yet to be found and current evidence suggest it is closely related to the obstruction of the CSF circulation. These obstruction could be due to a congenital malformation such as Arnold-chiari malformation, inflammatory conditions such as basal arachnoiditis (post infectious, post irradiation, inflammatory), other masses at the base of skull such as arachnoid cysts, rheumatoid arthritis pannus, occipital encephalocele and tumors. Other causes would be related to the trauma or can be idiopathic. The disease syringobulbia can affect both gender with slight male predominance. It is usually present since birth and manifests before age of 30 years. Introduction
Syringobulbia is a rare disease entity which is intimately related with syringomyelia. Syringobulbia is the formation of fluid filled cavity or so called syrinx in the medulla. whereas the syringomyelia is the similar occurrence in the spinal cord. The occurrence of syringobulbia can be due to the extension of syringomyelia, but it also occurs as an isolated illness. There would be a slit like gap in lower brain stem causing compression and related cranial nerve palsies. This syringobulbia cleft is found in investigations and in autopsy. The entire atiology for the illness is yet to be found and current evidence suggest it is closely related to the obstruction of the CSF circulation. These obstruction could be due to a congenital malformation such as Arnold-chiari malformation, inflammatory conditions such as basal arachnoiditis (post infectious, post irradiation, inflammatory), other masses at the base of skull such as arachnoid cysts, rheumatoid arthritis pannus, occipital encephalocele and tumors. Other causes would be related to the trauma or can be idiopathic. The disease syringobulbia can affect both gender with slight male predominance. It is usually present since birth and manifests before age of 30 years.
Headache Headache is the commonest symptom and it is typically pounding posteriolateral (occipital) episodic pain. This headache is associated with sinister features such as aggravation with straining and vomiting. Headache
Headache is the commonest symptom and it is typically pounding posteriolateral (occipital) episodic pain. This headache is associated with sinister features such as aggravation with straining and vomiting.
Dizziness or vertigo . Significant number of patients may complain the vertigo which is again episodic. This symptom is due to the involvement of vestibular nuclei and vestibular compartment of the 8th cranial nerve. This symptom could persists post operatively as well. Dizziness or vertigo .
Significant number of patients may complain the vertigo which is again episodic. This symptom is due to the involvement of vestibular nuclei and vestibular compartment of the 8th cranial nerve. This symptom could persists post operatively as well.
Hearing impairment and tinnitus These symptoms could be either unilateral or bilateral. These are mainly due to the involvement of cochlear compartment of the 8th cranial nerves and related nuclei. when these are associated with vertigo diagnosis could mistakenly directed towards a pathology of ear. Hearing impairment and tinnitus
These symptoms could be either unilateral or bilateral. These are mainly due to the involvement of cochlear compartment of the 8th cranial nerves and related nuclei. when these are associated with vertigo diagnosis could mistakenly directed towards a pathology of ear.
Voice disturbance The voice disturbances could be hoarseness, dysphonia or slurred speech. This could be due to the palatal palsy, cord palsy or involvement of tonque which are secondary to involvement of 9th, 10th, 11th and 12th cranial nerves. Children may rarely present with stridor even. Voice disturbance
The voice disturbances could be hoarseness, dysphonia or slurred speech. This could be due to the palatal palsy, cord palsy or involvement of tonque which are secondary to involvement of 9th, 10th, 11th and 12th cranial nerves. Children may rarely present with stridor even.
Paraesthasia of the face Due to the involvement of trigeminal nerve there could be bilateral or unilateral sensory impairment for pain and temperature on face. Paraesthasia of the face
Due to the involvement of trigeminal nerve there could be bilateral or unilateral sensory impairment for pain and temperature on face.
Dysphagia Due to the palatal and pharyngeal wall paralysis patients may have neurological type of dysphagia and reflux. Dysphagia
Due to the palatal and pharyngeal wall paralysis patients may have neurological type of dysphagia and reflux.
Ptosis This is drooping of eye lid which could be unilateral or rarely bilateral. This is usually partial and due to the involvement of ascending sympathetic bundle causing Horner's syndrome. Ptosis
This is drooping of eye lid which could be unilateral or rarely bilateral. This is usually partial and due to the involvement of ascending sympathetic bundle causing Horner's syndrome.
Diplopia This is double vision due to involvement of extraocular nervous system either the particular cranial nerve or the nerve nucleus. The commonest is abducent nerve palsy due to nuclear involvement. Diplopia
This is double vision due to involvement of extraocular nervous system either the particular cranial nerve or the nerve nucleus. The commonest is abducent nerve palsy due to nuclear involvement.
Facial asymmetry The facial asymmetry with mouth deviation, absent of nasolabial folds, inability to close eyes, inability to make wrinkles on fore head is due to facial nerve and nuclear involvement. This can be either upper or lower motor type. Facial asymmetry
The facial asymmetry with mouth deviation, absent of nasolabial folds, inability to close eyes, inability to make wrinkles on fore head is due to facial nerve and nuclear involvement. This can be either upper or lower motor type.
Features of syringomyelia Syringomyelia mainly involves the cervical spine. Therefore the initial symptoms in syringomyelia involves the upper limb. Initial phases the pain and temperature sensation is impaired due to the compression on decussating spinothalamic tracts. The distribution ill be upper limbs with the trunk in a shawl like pattern. Later on patient may develop impairment of light touch, vibration and proprioception. Syrinx may extend to the anterior horns and may complain the motor weakness of limbs. Autonomic dysfunction also can be associated. Therefore when the features of syringobulbia is associated with these symptoms the extension of syringomyelia has to be considered. Features of syringomyelia
Syringomyelia mainly involves the cervical spine. Therefore the initial symptoms in syringomyelia involves the upper limb. Initial phases the pain and temperature sensation is impaired due to the compression on decussating spinothalamic tracts. The distribution ill be upper limbs with the trunk in a shawl like pattern. Later on patient may develop impairment of light touch, vibration and proprioception. Syrinx may extend to the anterior horns and may complain the motor weakness of limbs. Autonomic dysfunction also can be associated. Therefore when the features of syringobulbia is associated with these symptoms the extension of syringomyelia has to be considered.
History of fall This is due to the associated verigo and visual disturbances. So with the progression of the disease they may have history of falls. History of fall
This is due to the associated verigo and visual disturbances. So with the progression of the disease they may have history of falls.
History of thermal and other injuries to the face This is due to the paraesthasia of the face due to involvement of the trigeminal nerve. History of thermal and other injuries to the face
This is due to the paraesthasia of the face due to involvement of the trigeminal nerve.
History of reflux, regurgitation and aspiration Due to the palatal and pharyngeal wall malfunctioning patients may get aspirated and aspiration pneumonia. History of reflux, regurgitation and aspiration
Due to the palatal and pharyngeal wall malfunctioning patients may get aspirated and aspiration pneumonia.
History of road traffic accidents These could be due to the associated visual and hearing disturbances as mentioned above. History of road traffic accidents
These could be due to the associated visual and hearing disturbances as mentioned above.
Other complications related to the features of syringomyelia These are thermal and other injuries to the limbs and the trunk due to sensory loss, motor weakness and autonomic involvement. Decubitas ulcers, contractures, orthostatic pneumonia, deep vein thrombosis can occur in extensive diseases due to bed bound status. Urinary incontinence, urinary tract infection and autonomic instability can be due to the autonomic involvement. Other complications related to the features of syringomyelia
These are thermal and other injuries to the limbs and the trunk due to sensory loss, motor weakness and autonomic involvement. Decubitas ulcers, contractures, orthostatic pneumonia, deep vein thrombosis can occur in extensive diseases due to bed bound status. Urinary incontinence, urinary tract infection and autonomic instability can be due to the autonomic involvement.
History of congenital malformation Arnold-chiari malformation is associated with syringomyelia and syringobulbia. Therefore the history of congenital malformations should be asked. History of congenital malformation
Arnold-chiari malformation is associated with syringomyelia and syringobulbia. Therefore the history of congenital malformations should be asked.
History of meningitis, spinal tuberculosis, cerebral tumors These pathologies could lead to CSF flow obstruction and secondary syrinx formation. History of meningitis, spinal tuberculosis, cerebral tumors
These pathologies could lead to CSF flow obstruction and secondary syrinx formation.
History of spinal trauma Trauma to the spine can be associated with syrinx formation. There fore such history has to be elicited. History of spinal trauma
Trauma to the spine can be associated with syrinx formation. There fore such history has to be elicited.

Clinicals - Examination

Fact Explanation
Voice disturbances Patient may have a hoarse voice or slurred speech due to the involvement palate, tongue and vocal cords. Voice disturbances
Patient may have a hoarse voice or slurred speech due to the involvement palate, tongue and vocal cords.
Nystagmus Nystagmus will be obvious in majority in rotatory pattern. This is greatly due to the involvement of vestibular nuclei and the 8th cranial nerve. Nystagmus
Nystagmus will be obvious in majority in rotatory pattern. This is greatly due to the involvement of vestibular nuclei and the 8th cranial nerve.
Horner's syndrome Due to the compression on ascending sympathetic trunk Horner's syndrome can occur. This includes partial ptosis, meiosis and hemifacial loss of seating. Horner's syndrome
Due to the compression on ascending sympathetic trunk Horner's syndrome can occur. This includes partial ptosis, meiosis and hemifacial loss of seating.
Parasthaesia Due to the involvement of trigeminal nerve and the related nuclei pain and temperature sensation of the face can be affected. Parasthaesia
Due to the involvement of trigeminal nerve and the related nuclei pain and temperature sensation of the face can be affected.
Facial nerve palsy Due to the involvement of either the facial nerve or the nucleus patients may have upper motor or lower motor type facial nerve palsy. Facial nerve palsy
Due to the involvement of either the facial nerve or the nucleus patients may have upper motor or lower motor type facial nerve palsy.
Opthalmoplegia Involvement of abducent nerve nucleus can cause impaired abduction of the eye and opthalmoplegia. Opthalmoplegia
Involvement of abducent nerve nucleus can cause impaired abduction of the eye and opthalmoplegia.
Palatal palsy Due to the involvement of 9th, 10th nerves palatal palsy can occur. On examination palsy of the uvula, absent gag reflex and palatal analgesia can be elicited. Palatal palsy
Due to the involvement of 9th, 10th nerves palatal palsy can occur. On examination palsy of the uvula, absent gag reflex and palatal analgesia can be elicited.
Accessory nerve palsy Not commonly few patients may have weakness accessory nerve causing weak sternocleidomastoid and traphizius. Accessory nerve palsy
Not commonly few patients may have weakness accessory nerve causing weak sternocleidomastoid and traphizius.
Hypoglossal nerve palsy Hypoglossal nerve palsy causes tongue fasciculation and tongue palsy. Hypoglossal nerve palsy
Hypoglossal nerve palsy causes tongue fasciculation and tongue palsy.
Features of syringomyelia Dissociated sensory impairement involving cervical level and below is obvious. Initially the pain and temperature is impaired due to affected decussating spinothalamic tracts. Later in the disease cause other sensory modalities are also involved including light touch, vibration and proprioception. Sensory signs are obvious bilaterally though it can be asymmetrical. Motor weakness can be elicited in latter part of the disease with hyporelexia of arms and spastic paraplegia of lower limbs. Hyporeflexia in upper limb is due to anterior horn involvement due to expanding syrinx. Bladder bowel incontinence can be seen with involvement of anal sphincter tone. Features of syringomyelia
Dissociated sensory impairement involving cervical level and below is obvious. Initially the pain and temperature is impaired due to affected decussating spinothalamic tracts. Later in the disease cause other sensory modalities are also involved including light touch, vibration and proprioception. Sensory signs are obvious bilaterally though it can be asymmetrical. Motor weakness can be elicited in latter part of the disease with hyporelexia of arms and spastic paraplegia of lower limbs. Hyporeflexia in upper limb is due to anterior horn involvement due to expanding syrinx. Bladder bowel incontinence can be seen with involvement of anal sphincter tone.
Ear examination Ear examination should be carried out to exclude ear pathologies causing similar symptoms. Ear examination
Ear examination should be carried out to exclude ear pathologies causing similar symptoms.
Cerebellar examination Complete cerebellar examination ill reveal associated cerebellar involvement as well. Cerebellar examination
Complete cerebellar examination ill reveal associated cerebellar involvement as well.
Evidence of thermal and other injuries to the face These injuries can happen due to unawareness about the injurious stimuli due to parasthaesia of the face with trigeminal nerve involvement. Evidence of thermal and other injuries to the face
These injuries can happen due to unawareness about the injurious stimuli due to parasthaesia of the face with trigeminal nerve involvement.
Corneal ulcerations The facial nerve palsy will impair the closure of eye and causes corneal ulceration due to persistent exposure of the eye to exterior. Corneal ulcerations
The facial nerve palsy will impair the closure of eye and causes corneal ulceration due to persistent exposure of the eye to exterior.
Evidence of aspiration Due to the palatal and pharyngeal wall palsy the swallowing doesn't take place properly and causes aspiration. Coarse capitations will be audible during auscultation. Evidence of aspiration
Due to the palatal and pharyngeal wall palsy the swallowing doesn't take place properly and causes aspiration. Coarse capitations will be audible during auscultation.
Other complications of syringomyelia Progressive weakness causes inability to mobilize and patients may become either wheelchair or bed bound. In mobility causes and there can be features of bed sores, hypopstatic pneumonia, deep vein thrombosis. Contractures may also develop in prolonged illness. Other complications of syringomyelia
Progressive weakness causes inability to mobilize and patients may become either wheelchair or bed bound. In mobility causes and there can be features of bed sores, hypopstatic pneumonia, deep vein thrombosis. Contractures may also develop in prolonged illness.
Generalized cachexia Cachexia may cause due to chronic ill health and dysphagia and associated complications. Generalized cachexia
Cachexia may cause due to chronic ill health and dysphagia and associated complications.
Respiratory distress This may be an emergency and life threatening. This occurs due to the intercostal muscle weakness and phrenic nerve weakness. Respiratory distress
This may be an emergency and life threatening. This occurs due to the intercostal muscle weakness and phrenic nerve weakness.

Investigations - Diagnosis

Fact Explanation
CT scan After detailed clinical history and examination imaging is the investigation is syringomyelia or syringobulbia is suspected. CT scan shows the skeletal structure better than the MRI and can be carried out to detect bone deformities such as atlantoaxial dislocation, vertebral fractures or lesions. CT scan
After detailed clinical history and examination imaging is the investigation is syringomyelia or syringobulbia is suspected. CT scan shows the skeletal structure better than the MRI and can be carried out to detect bone deformities such as atlantoaxial dislocation, vertebral fractures or lesions.
MRI scan MRI scan is the investigation of choice for the diagnosis. It has to be done in both T1 and T2 weighted images and have to look at on both axial and transverse views. when a tumor or post traumatic syrinx is suspected scanning should be contrasted with Gadolinium. MRI shows the extent of cyst or cysts with associated deformities and tumors. Magnetic resonance angiography is helpful in detecting vascular malformations. MRI scan
MRI scan is the investigation of choice for the diagnosis. It has to be done in both T1 and T2 weighted images and have to look at on both axial and transverse views. when a tumor or post traumatic syrinx is suspected scanning should be contrasted with Gadolinium. MRI shows the extent of cyst or cysts with associated deformities and tumors. Magnetic resonance angiography is helpful in detecting vascular malformations.
Myelography Myelography can be carried out combined with CT when MRI can not be performed. Myelography
Myelography can be carried out combined with CT when MRI can not be performed.
Nerve conduction studies This is greatly important in excluding other diagnosis such as Guillen Barre syndrome, Motor neuron disease, anterior horn cell disease. Nerve conduction studies
This is greatly important in excluding other diagnosis such as Guillen Barre syndrome, Motor neuron disease, anterior horn cell disease.
Pure tone audiogram and tympanometry These tests can be performed to assess the status of ear and the degree of deafness Pure tone audiogram and tympanometry
These tests can be performed to assess the status of ear and the degree of deafness

Investigations - Management

Fact Explanation
To assess the fitness for surgery The management is essentially surgical. So for the preparation of surgery which involve the brain stem thorough investigations should be done. Those are as follow. To assess the fitness for surgery
The management is essentially surgical. So for the preparation of surgery which involve the brain stem thorough investigations should be done. Those are as follow.
FBC To see the haemoglobin and the platelet level pre-operatively. FBC
To see the haemoglobin and the platelet level pre-operatively.
Serum creatine and electrolytes Pre-operative renal function and electrolyte level should be known. Renal functions has to be monitored and electrolytes has to be optimized. Serum creatine and electrolytes
Pre-operative renal function and electrolyte level should be known. Renal functions has to be monitored and electrolytes has to be optimized.
Thromboelastogram Platelet functions status can be assessed and optimized for minimum bleeding. This is really indicated if patient is on anti-platelets Thromboelastogram
Platelet functions status can be assessed and optimized for minimum bleeding. This is really indicated if patient is on anti-platelets
Clotting profile. PT/INR and APTT Clotting status shoul be assessed and optimized for minimum bleeding. Clotting profile. PT/INR and APTT
Clotting status shoul be assessed and optimized for minimum bleeding.
ECG and 2D Echocardiogram In patient with suggestive history of cardiac compromise or complications, Cardiac status has to be assessed and optimized pre-operatively. ECG and 2D Echocardiogram
In patient with suggestive history of cardiac compromise or complications, Cardiac status has to be assessed and optimized pre-operatively.
Chest xray and lung function tests In patients which suggestive history of lung diseases and suspected compromise,Respiratory status has to be assessed and optimized pre-operatively. Chest xray and lung function tests
In patients which suggestive history of lung diseases and suspected compromise,Respiratory status has to be assessed and optimized pre-operatively.
Serum protein levels In patients who are undernourished and has underlying conditions which are susceptible to affect their body regulation of protein Serum protein levels should be assessed and optimized prior to the surgery. Serum protein levels
In patients who are undernourished and has underlying conditions which are susceptible to affect their body regulation of protein Serum protein levels should be assessed and optimized prior to the surgery.

Management - Supportive

Fact Explanation
Emergency management Respiratory paralysis could occur due to the intercostal muscle involvement and phrenic nerve involvement. So if presented with respiratory distress securing of airway, endotracheal intubation and ventilator support may be needed. Emergency management
Respiratory paralysis could occur due to the intercostal muscle involvement and phrenic nerve involvement. So if presented with respiratory distress securing of airway, endotracheal intubation and ventilator support may be needed.
Health education This should include the rarity of the disease and possible complications of the disease. Patient and the family members should be thoroughly emphasized about the complexity of the surgical procedure and possible sinister complications before the surgery. Health education
This should include the rarity of the disease and possible complications of the disease. Patient and the family members should be thoroughly emphasized about the complexity of the surgical procedure and possible sinister complications before the surgery.
Naso Gastric feeding and nutrition when the patients are having severe dysphagia they should be fed via NG tube. when necessary parenteral nutrition may also be needed for pre-operative optimization. Naso Gastric feeding and nutrition
when the patients are having severe dysphagia they should be fed via NG tube. when necessary parenteral nutrition may also be needed for pre-operative optimization.
Covering the eyes and arteficial tears when there is a facial nerve weakness there is a risk of corneal ulceration due to open eye lids. So the covering of affected eye and administration of artificial tears may prevent the corneal ulcers. In persistent cases tarsoraphy can be done. Covering the eyes and arteficial tears
when there is a facial nerve weakness there is a risk of corneal ulceration due to open eye lids. So the covering of affected eye and administration of artificial tears may prevent the corneal ulcers. In persistent cases tarsoraphy can be done.
Balance training, physiotherapy and rehabilitation, speech therapy Balancing should be trained because due to the vertigo there is a risk of fall. Physiotherapy has to be arranged in patients with facial nerve palsy (including for electrical nerve stimulation) and motor weakness with syringomyelia. Rehabilitation is essential in inoperable cases. Speech theraphy has to be arranged for patients with palatal and vocal cord involvement. Balance training, physiotherapy and rehabilitation, speech therapy
Balancing should be trained because due to the vertigo there is a risk of fall. Physiotherapy has to be arranged in patients with facial nerve palsy (including for electrical nerve stimulation) and motor weakness with syringomyelia. Rehabilitation is essential in inoperable cases. Speech theraphy has to be arranged for patients with palatal and vocal cord involvement.
Avoidance of injurious agents to the face and the regions with paraesthaesia. Patient should be aware about the parasthaesia of the affected region and have to take measures to prevent injuries. Such as avoiding exposure to sunlight. Avoidance of injurious agents to the face and the regions with paraesthaesia.
Patient should be aware about the parasthaesia of the affected region and have to take measures to prevent injuries. Such as avoiding exposure to sunlight.
Urinary cathterization and bladder bowel care and prevention of bed sores when the patient is having autonomic dysfunction due to syringomyelia, bladder and bowel care has to be arranged. Bed sore should be prevented by frequent turning, using and air or water mattress. Urinary cathterization and bladder bowel care and prevention of bed sores
when the patient is having autonomic dysfunction due to syringomyelia, bladder and bowel care has to be arranged. Bed sore should be prevented by frequent turning, using and air or water mattress.
Prevention of deep vein thrombosis This has to to be done in immobilizing patients. It can be achieved by physiotherapy, mobilization, good hydration, stocking and anticoagulation with lo molecular weight heparin. Prevention of deep vein thrombosis
This has to to be done in immobilizing patients. It can be achieved by physiotherapy, mobilization, good hydration, stocking and anticoagulation with lo molecular weight heparin.
Analgesics and muscle relaxants These can be used for symptomatic management Analgesics and muscle relaxants
These can be used for symptomatic management

Management - Specific

Fact Explanation
Surgical management Specific management is essentially surgical. Any secondary cause has to be detected if present. Surgery should not be delayed to prevent complications. Surgical options would be rerouting the CSF via shunts or tubes. Fluoroscopic guided aspiration also can be attempted. Measures have to be taken to eneucleate the underlying tumors and correct the malformations if practical. Surgical management
Specific management is essentially surgical. Any secondary cause has to be detected if present. Surgery should not be delayed to prevent complications. Surgical options would be rerouting the CSF via shunts or tubes. Fluoroscopic guided aspiration also can be attempted. Measures have to be taken to eneucleate the underlying tumors and correct the malformations if practical.

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