Bobble-Head Doll Syndrome
Encyclopedia
Bobble-head doll syndrome is a rare neurological movement disorder in which patients, usually children around age 3, begin to bob their head and shoulders forward and back, or sometimes side-to-side, involuntarily, in a manner reminiscent of a bobblehead doll. The syndrome is related to cystic lesions and swelling of the third ventricle
in the brain. Symptoms of bobble-head doll syndrome are diverse but can be grouped into two categories: physical and neurological. The most common form of treatment is surgical implanting of a shunt
to relieve the swelling of the brain.
in patients. However, after performing several tests and scans of the brain, the characteristic movement is found to be neurological in origin.
or spelling words. However, once the task is completed by the patient, the bobbing tends to resume after about a minute. Thus, the bobbing is described by doctors as volitional, or able to be stopped by making a conscious decision. The bobbing also disappears while the patient is asleep, a common feature of most movement disorders.
A supplemental symptom of the head bobbing is a presence of ataxia
. Several patients were reported as having difficulty walking, running, and climbing steps because of the bobbing. It is likely that the constant bobbing has interrupted the patient’s ability to balance which requires input from several sources including the vestibular
, ocular, somatosensory
, and motor system
s. Although the nature of these movements is physical, their source is neurological, generally stemming from a dysfunction of parts of the nervous system which control motor function.
in the third ventricle. This dilatation
impairs communication between ventricles as well as the function of other surrounding structures.
Quite often, the swelling is present along with cystic lesions in the third ventricle or surrounding periventricular structures. In reference to bobble-head doll syndrome, a third ventricular cystic lesion
causes an obstruction in the foramina of Monro, which communicates with the lateral ventricles, and the proximal, cerebral aqueduct of Sylvius, which communicates with the fourth ventricle. It has also been reported to be caused by a cystic choroid plexus papilloma
of the third ventricle and obstructive hydrocephalus. It is this blockage that is thought to produce the characteristic bobble-head movements. Other patients have seen the onset of bobble-head doll syndrome from the presence of a suprasellar cyst in the arachnoid mater
of the meninges
. It, too, obstructs the foramen of Monro.
International Classification of Diseases (ICD) as G93.0, under ICD-10
, and 348, under ICD-9.
.
Although the exact pathogenesis
of bobble-head doll syndrome is still unknown, there are many theories as to how and why it does what it does. Most of these theories acknowledge the striking similarity of symptoms between bobble-head doll syndrome and other movement disorders.
The presence of cystic lesions, causing swelling in the third ventricle, is a common feature in all patients. It is this dilatation that causes pressure to be applied to the surrounding structures of the third ventricle, such as the diencephalon
. It is possible that the back and forth movement of fluid within the cyst causes rhythmic pressure on the diencephalic motor pathways. One of the key periventricular structures in that pathway is the thalamus
which is responsible for relaying motor signals to the cerebral cortex as well as regulating consciousness, sleep, and alertness. The disappearance of the head movements while asleep implies that their origin may lie within the extrapyramidal system
which is a part of the motor system that controls coordination of movement. The tracts associated with the extrapyramidal system are controlled by various structures of the central nervous system
, such as the cerebellum
and basal ganglia
. The basal ganglia plays a large part in controlling motor function and thus, abnormalities to this system can result in movement disorders such as Parkinson’s Disease and dyskinesia
, both of which share commonalities with bobble-head doll syndrome.
The tic-like movements and swelling of the third ventricle associated with bobble-head doll syndrome are similar to that of other movement disorders caused by diseases of the corpus callosum
and aforementioned basal ganglia. Because of the swelling, added pressure is applied to these formations causing their basic functions to be disturbed. Through pneumoencephalographic studies of patients with Parkinson’s, Huntington’s, and dystonia musculorum deformans
, it was discovered that, along with patients with bobble-head doll syndrome, a statistically significant swelling of the third ventricle existed. Thus, researchers believe that the connection between bobble-head doll syndrome and other movement disorders is that, in both, the movements are not caused by a particular lesion, but rather a hindrance of multiple neuronal structures or pathways. In the case of bobble-head doll syndrome, the disturbance is related to those structures proximal to the third ventricle. More research is being conducted in order to find the neurophysiologic basis for bobble-head doll syndrome and its connection with other movement disorders, but with the rare occurrence of the disorder, progress is slow.
Another theory exists behind the cause of bobble-head doll syndrome. It states that the constant head movements create a temporary relief in intraventricular obstruction by both shifting the cyst to the posterior—away from the foramina of Monro—and a reduction in cyst size. This points to the fact that the bobbing may be a “learned behavior” and a way to relieve the symptoms of hydrocephalus.
In order to try to investigate the flow dynamics of the cerebrospinal fluid, doctors utilize cisternography, which injects a radiolabeled substance into the CSF via lumbar puncture. The CSF flow is then tracked by taking pictures at incremental times. However, cisternography is declining in use with physicians who are opting to use MRI instead, to assess CSF flow.
Cerebrospinal fluid flow is important in diagnosing bobble-head doll syndrome because disturbances in CSF dynamics can be contributed to blockages in the connections between ventricles such as foramen and aqueducts. Such blockages are tell-tale signs that a cyst is present. Also, if CSF cannot flow freely, it will begin to accumulate leading to hydrocephalus. CSF is secreted by choroid plexuses located on the roofs of the ventricles. After travelling through each ventricle, the CSF leaves the fourth ventricle and flows around the brain stem, cerebellum, hemispheres, and finally, down into the subarachnoid space
. To complete the cycle, the CSF then moves back up to the basal cisternae to start over. In patients with bobble-head doll syndrome, an impairment exists in the ability to reabsorb CSF by the arachnoid granulations leading to an accumulation. Presently, doctors will utilize magnetic resonance imaging to get an image of the afflicted area. If swelling exists in the third ventricle along with cystic lesions, both of which are accompanied by the characteristic head bobbing, a diagnosis of bobble-head doll syndrome is likely. From here, the doctor will propose the available treatment options listed below.
to reduce the intracranial pressure caused by the accumulation of CSF in the third ventricle. Typically, this will succeed in restricting the swelling and allowing proper flow of CSF. With this relief, the head bobbing will disappear and bobble-head doll syndrome will no longer be present. However, in one case, after a year of shunt placement, the patient switched from forward-back bobbing to side-to-side swaying. There was no discernable reasoning for the switch found. A hypothesis emerged from this case that cerebellar malformations themselves can cause bobble-head doll syndrome.
ventriculocystocisternostomy is the optimal treatment option. By fenestrating, or opening, the cystic membrane and removing the fluid, all obstructions of the aqueduct were resolved. In patients receiving this treatment, a full recovery is the most common result.
Third ventricle
The third ventricle is one of four connected fluid-filled cavities comprising the ventricular system within the human brain. It is a median cleft between the two thalami, and is filled with cerebrospinal fluid ....
in the brain. Symptoms of bobble-head doll syndrome are diverse but can be grouped into two categories: physical and neurological. The most common form of treatment is surgical implanting of a shunt
Shunt (medical)
In medicine, a shunt is a hole or a small passage which moves, or allows movement of fluid from one part of the body to another. The term may describe either congenital or acquired shunts; and acquired shunts may be either biological or mechanical.* Cardiac shunts may be described as...
to relieve the swelling of the brain.
Signs and symptoms
Bobble-head doll syndrome is first reported as a movement disorderMovement disorder
Movement disorders include:* Akathisia * Akinesia * Associated Movements * Athetosis...
in patients. However, after performing several tests and scans of the brain, the characteristic movement is found to be neurological in origin.
Physical
The main physical symptom of bobble-head doll syndrome is the most obvious to diagnose and involves two to three bobs per second of the head, which can sometimes also include the shoulders and upper torso. The patient is unaware of the movements and unable to control them unless directed to stop or given simple mental tasks such as basic arithmeticArithmetic
Arithmetic or arithmetics is the oldest and most elementary branch of mathematics, used by almost everyone, for tasks ranging from simple day-to-day counting to advanced science and business calculations. It involves the study of quantity, especially as the result of combining numbers...
or spelling words. However, once the task is completed by the patient, the bobbing tends to resume after about a minute. Thus, the bobbing is described by doctors as volitional, or able to be stopped by making a conscious decision. The bobbing also disappears while the patient is asleep, a common feature of most movement disorders.
A supplemental symptom of the head bobbing is a presence of ataxia
Ataxia
Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum...
. Several patients were reported as having difficulty walking, running, and climbing steps because of the bobbing. It is likely that the constant bobbing has interrupted the patient’s ability to balance which requires input from several sources including the vestibular
Vestibular system
The vestibular system, which contributes to balance in most mammals and to the sense of spatial orientation, is the sensory system that provides the leading contribution about movement and sense of balance. Together with the cochlea, a part of the auditory system, it constitutes the labyrinth of...
, ocular, somatosensory
Somatosensory system
The somatosensory system is a diverse sensory system composed of the receptors and processing centres to produce the sensory modalities such as touch, temperature, proprioception , and nociception . The sensory receptors cover the skin and epithelia, skeletal muscles, bones and joints, internal...
, and motor system
Motor system
The motor system is the part of the central nervous system that is involved with movement. It consists of the pyramidal and extrapyramidal system....
s. Although the nature of these movements is physical, their source is neurological, generally stemming from a dysfunction of parts of the nervous system which control motor function.
Neurological
A typical symptom in patients diagnosed with bobble-head doll syndrome is an enlargement of the head due to accumulation of cerebrospinal fluidCerebrospinal fluid
Cerebrospinal fluid , Liquor cerebrospinalis, is a clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord...
in the third ventricle. This dilatation
Vasodilation
Vasodilation refers to the widening of blood vessels resulting from relaxation of smooth muscle cells within the vessel walls, particularly in the large arteries, smaller arterioles and large veins. The process is essentially the opposite of vasoconstriction, or the narrowing of blood vessels. When...
impairs communication between ventricles as well as the function of other surrounding structures.
Quite often, the swelling is present along with cystic lesions in the third ventricle or surrounding periventricular structures. In reference to bobble-head doll syndrome, a third ventricular cystic lesion
Lesion
A lesion is any abnormality in the tissue of an organism , usually caused by disease or trauma. Lesion is derived from the Latin word laesio which means injury.- Types :...
causes an obstruction in the foramina of Monro, which communicates with the lateral ventricles, and the proximal, cerebral aqueduct of Sylvius, which communicates with the fourth ventricle. It has also been reported to be caused by a cystic choroid plexus papilloma
Choroid plexus papilloma
A Choroid plexus papilloma is a rare, slow-growing, histologically benign intracranial neoplasm or tumor that is commonly located in the ventricular system of the choroid plexus. It may obstruct the cerebrospinal fluid flow, causing increased intracranial pressure.-Pathophysiology:The tumor is...
of the third ventricle and obstructive hydrocephalus. It is this blockage that is thought to produce the characteristic bobble-head movements. Other patients have seen the onset of bobble-head doll syndrome from the presence of a suprasellar cyst in the arachnoid mater
Arachnoid mater
The arachnoid mater, literally from Latin "spider -like mother", is one of the three meninges, the membranes that cover the brain and spinal cord...
of the meninges
Meninges
The meninges is the system of membranes which envelopes the central nervous system. The meninges consist of three layers: the dura mater, the arachnoid mater, and the pia mater. The primary function of the meninges and of the cerebrospinal fluid is to protect the central nervous system.-Dura...
. It, too, obstructs the foramen of Monro.
Classification
Bobble-head doll syndrome does not have a precise classification in the major medical catalogs because of its rarity and complexity. Although it is a movement disorder, it is caused by neuronal obstruction of ventricle communication. Thus, it is grouped with hydrocephalus under the World Health Organization’sWorld Health Organization
The World Health Organization is a specialized agency of the United Nations that acts as a coordinating authority on international public health. Established on 7 April 1948, with headquarters in Geneva, Switzerland, the agency inherited the mandate and resources of its predecessor, the Health...
International Classification of Diseases (ICD) as G93.0, under ICD-10
ICD-10
The International Statistical Classification of Diseases and Related Health Problems, 10th Revision is a medical classification list for the coding of diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases, as maintained by the...
, and 348, under ICD-9.
Epidemiology
The rarity of the syndrome is such that, since 1966, only 34 cases have been reported. Of those cases, the average onset of head bobbing is 3 years and 3 months old while surgical intervention occurred on average, at age 6 years and 11 months.Pathophysiology
Those susceptible to acquiring bobble-head doll syndrome range from newborns to adults—with the oldest reported patient being 26 years old. However, the majority of cases involve children who have yet to reach pubertyPuberty
Puberty is the process of physical changes by which a child's body matures into an adult body capable of reproduction, as initiated by hormonal signals from the brain to the gonads; the ovaries in a girl, the testes in a boy...
.
Although the exact pathogenesis
Pathogenesis
The pathogenesis of a disease is the mechanism by which the disease is caused. The term can also be used to describe the origin and development of the disease and whether it is acute, chronic or recurrent...
of bobble-head doll syndrome is still unknown, there are many theories as to how and why it does what it does. Most of these theories acknowledge the striking similarity of symptoms between bobble-head doll syndrome and other movement disorders.
The presence of cystic lesions, causing swelling in the third ventricle, is a common feature in all patients. It is this dilatation that causes pressure to be applied to the surrounding structures of the third ventricle, such as the diencephalon
Diencephalon
The diencephalon is the region of the vertebrate neural tube which gives rise to posterior forebrain structures. In development, the forebrain develops from the prosencephalon, the most anterior vesicle of the neural tube which later forms both the diencephalon and the...
. It is possible that the back and forth movement of fluid within the cyst causes rhythmic pressure on the diencephalic motor pathways. One of the key periventricular structures in that pathway is the thalamus
Thalamus
The thalamus is a midline paired symmetrical structure within the brains of vertebrates, including humans. It is situated between the cerebral cortex and midbrain, both in terms of location and neurological connections...
which is responsible for relaying motor signals to the cerebral cortex as well as regulating consciousness, sleep, and alertness. The disappearance of the head movements while asleep implies that their origin may lie within the extrapyramidal system
Extrapyramidal system
In human anatomy, the extrapyramidal system is a neural network located in the brain that is part of the motor system involved in the coordination of movement. The system is called "extrapyramidal" to distinguish it from the tracts of the motor cortex that reach their targets by traveling through...
which is a part of the motor system that controls coordination of movement. The tracts associated with the extrapyramidal system are controlled by various structures of the central nervous system
Central nervous system
The central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish...
, such as the cerebellum
Cerebellum
The cerebellum is a region of the brain that plays an important role in motor control. It may also be involved in some cognitive functions such as attention and language, and in regulating fear and pleasure responses, but its movement-related functions are the most solidly established...
and basal ganglia
Basal ganglia
The basal ganglia are a group of nuclei of varied origin in the brains of vertebrates that act as a cohesive functional unit. They are situated at the base of the forebrain and are strongly connected with the cerebral cortex, thalamus and other brain areas...
. The basal ganglia plays a large part in controlling motor function and thus, abnormalities to this system can result in movement disorders such as Parkinson’s Disease and dyskinesia
Dyskinesia
Dyskinesia is a movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements, similar to tics or choreia. Dyskinesia can be anything from a slight tremor of the hands to uncontrollable movement of, most commonly, the upper body but...
, both of which share commonalities with bobble-head doll syndrome.
The tic-like movements and swelling of the third ventricle associated with bobble-head doll syndrome are similar to that of other movement disorders caused by diseases of the corpus callosum
Corpus callosum
The corpus callosum , also known as the colossal commissure, is a wide, flat bundle of neural fibers beneath the cortex in the eutherian brain at the longitudinal fissure. It connects the left and right cerebral hemispheres and facilitates interhemispheric communication...
and aforementioned basal ganglia. Because of the swelling, added pressure is applied to these formations causing their basic functions to be disturbed. Through pneumoencephalographic studies of patients with Parkinson’s, Huntington’s, and dystonia musculorum deformans
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
, it was discovered that, along with patients with bobble-head doll syndrome, a statistically significant swelling of the third ventricle existed. Thus, researchers believe that the connection between bobble-head doll syndrome and other movement disorders is that, in both, the movements are not caused by a particular lesion, but rather a hindrance of multiple neuronal structures or pathways. In the case of bobble-head doll syndrome, the disturbance is related to those structures proximal to the third ventricle. More research is being conducted in order to find the neurophysiologic basis for bobble-head doll syndrome and its connection with other movement disorders, but with the rare occurrence of the disorder, progress is slow.
Another theory exists behind the cause of bobble-head doll syndrome. It states that the constant head movements create a temporary relief in intraventricular obstruction by both shifting the cyst to the posterior—away from the foramina of Monro—and a reduction in cyst size. This points to the fact that the bobbing may be a “learned behavior” and a way to relieve the symptoms of hydrocephalus.
Diagnosis
Several methods exist for diagnosing a patient as having bobble-head doll syndrome. Most involve brain scans to look for swelling while some use cisternography to observe obstruction in cerebrospinal fluid (CSF) flow among ventricles.In order to try to investigate the flow dynamics of the cerebrospinal fluid, doctors utilize cisternography, which injects a radiolabeled substance into the CSF via lumbar puncture. The CSF flow is then tracked by taking pictures at incremental times. However, cisternography is declining in use with physicians who are opting to use MRI instead, to assess CSF flow.
Cerebrospinal fluid flow is important in diagnosing bobble-head doll syndrome because disturbances in CSF dynamics can be contributed to blockages in the connections between ventricles such as foramen and aqueducts. Such blockages are tell-tale signs that a cyst is present. Also, if CSF cannot flow freely, it will begin to accumulate leading to hydrocephalus. CSF is secreted by choroid plexuses located on the roofs of the ventricles. After travelling through each ventricle, the CSF leaves the fourth ventricle and flows around the brain stem, cerebellum, hemispheres, and finally, down into the subarachnoid space
Subarachnoid space
In the central nervous system, the subarachnoid cavity is the interval between the arachnoid membrane and pia mater....
. To complete the cycle, the CSF then moves back up to the basal cisternae to start over. In patients with bobble-head doll syndrome, an impairment exists in the ability to reabsorb CSF by the arachnoid granulations leading to an accumulation. Presently, doctors will utilize magnetic resonance imaging to get an image of the afflicted area. If swelling exists in the third ventricle along with cystic lesions, both of which are accompanied by the characteristic head bobbing, a diagnosis of bobble-head doll syndrome is likely. From here, the doctor will propose the available treatment options listed below.
Treatment
No one cure exists because bobble-head doll syndrome can be caused by several compounding disorders. However, most times surgery will fully resolve the movement disorder. Successful surgical procedures include surgical removal of the lesion, insertion of a ventriculoperitoneal shunt, and ventriculocisternostomy.Removal of lesion
In the case of choroid plexus papilloma, surgical removal of the cyst-containing lesion from within the third ventricle caused a full recovery. The mobile nature of the cystic lesion led to its intermittent obstruction of the foramen of Monro and proximal aqueduct, producing the bobble-head symptoms. Once removed, all symptoms disappeared.Ventriculoperitoneal shunt
Oftentimes, doctors will implant a shuntShunt (medical)
In medicine, a shunt is a hole or a small passage which moves, or allows movement of fluid from one part of the body to another. The term may describe either congenital or acquired shunts; and acquired shunts may be either biological or mechanical.* Cardiac shunts may be described as...
to reduce the intracranial pressure caused by the accumulation of CSF in the third ventricle. Typically, this will succeed in restricting the swelling and allowing proper flow of CSF. With this relief, the head bobbing will disappear and bobble-head doll syndrome will no longer be present. However, in one case, after a year of shunt placement, the patient switched from forward-back bobbing to side-to-side swaying. There was no discernable reasoning for the switch found. A hypothesis emerged from this case that cerebellar malformations themselves can cause bobble-head doll syndrome.
Endoscopic ventriculocystocisternostomy
For those with suprasellar arachnoid cysts, it has been discovered that endoscopicEndoscopy
Endoscopy means looking inside and typically refers to looking inside the body for medical reasons using an endoscope , an instrument used to examine the interior of a hollow organ or cavity of the body. Unlike most other medical imaging devices, endoscopes are inserted directly into the organ...
ventriculocystocisternostomy is the optimal treatment option. By fenestrating, or opening, the cystic membrane and removing the fluid, all obstructions of the aqueduct were resolved. In patients receiving this treatment, a full recovery is the most common result.