Bobble-head doll syndrome

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Bobble-head doll syndrome
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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.

Contents

Symptoms of bobble-head doll syndrome are diverse, including both physical and neurological symptoms. [1] The most common form of treatment is surgical implanting of a shunt to relieve the swelling of the brain. [2]

Signs and symptoms

Bobble-head doll syndrome is first reported as a movement disorder in patients. Patients often undergo imaging to investigate potential neurological causes.

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 arithmetic 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. [3]

Neurological

A typical symptom in patients diagnosed with bobble-head doll syndrome is an enlargement of the head due to accumulation of cerebrospinal fluid in the third ventricle. This dilatation impairs communication between ventricles as well as the function of other surrounding structures. [4]

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. [5] 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. [6]

Pathophysiology

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. [4] 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. [4]

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. [3] 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. [7]

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. [8]

Diagnosis

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. [9]

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. [8] Presently, doctors will utilize magnetic resonance imaging to get an image of the affected 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. [7]

Treatment

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. [5]

Ventriculoperitoneal shunt

Often, doctors will implant a shunt 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. [2] 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 discernible reasoning for the switch found. A hypothesis emerged from this case that cerebellar malformations themselves can cause bobble-head doll syndrome. [1]

Endoscopic ventriculocystocisternostomy

For those with suprasellar arachnoid cysts, it has been discovered that endoscopic 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. [6]

Prognosis

Although surgery is agreed upon as the primary treatment option for patients with bobble-head doll syndrome, surgical treatment has been reported to completely remove all symptoms in only half of the cases. Reason for this stems from late diagnoses which can significantly decrease the hope for a full recovery and lead to permanent profound obstructive hydrocephalus. [10] Thus, prognosis depends upon the time elapsed between the first signs of the disorder and the time of surgical treatment. Early diagnosis and treatment is highly important in successful treatment of bobble-head doll syndrome. [2]

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. [11]

See also

Related Research Articles

<span class="mw-page-title-main">Cerebrospinal fluid</span> Clear, colorless bodily fluid found in the brain and spinal cord

Cerebrospinal fluid (CSF) is a clear, colorless body fluid found within the tissue that surrounds the brain and spinal cord of all vertebrates.

<span class="mw-page-title-main">Syringomyelia</span> Disorder in which a cyst forms in the spinal cord

Syringomyelia is a generic term referring to a disorder in which a cyst or cavity forms within the spinal cord. Often, syringomyelia is used as a generic term before an etiology is determined. This cyst, called a syrinx, can expand and elongate over time, destroying the spinal cord. The damage may result in loss of feeling, paralysis, weakness, and stiffness in the back, shoulders, and extremities. Syringomyelia may also cause a loss of the ability to feel extremes of hot or cold, especially in the hands. It may also lead to a cape-like bilateral loss of pain and temperature sensation along the upper chest and arms. The combination of symptoms varies from one patient to another depending on the location of the syrinx within the spinal cord, as well as its extent.

<span class="mw-page-title-main">Hydrocephalus</span> Abnormal increase in cerebrospinal fluid in the ventricles of the brain

Hydrocephalus is a condition in which an accumulation of cerebrospinal fluid (CSF) occurs within the brain. This typically causes increased pressure inside the skull. Older people may have headaches, double vision, poor balance, urinary incontinence, personality changes, or mental impairment. In babies, it may be seen as a rapid increase in head size. Other symptoms may include vomiting, sleepiness, seizures, and downward pointing of the eyes.

<span class="mw-page-title-main">Chiari malformation</span> Structural defect in the cerebellum of the brain

In neurology, the Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum.

<span class="mw-page-title-main">Hydranencephaly</span> Medical condition

Hydranencephaly is a condition in which the brain's cerebral hemispheres are absent to a great degree and the remaining cranial cavity is filled with cerebrospinal fluid. "Cephalic" is the scientific term for "head" or "head end of body".

<span class="mw-page-title-main">Ventricular system</span> Structures containing cerebrospinal fluid

In neuroanatomy, the ventricular system is a set of four interconnected cavities known as cerebral ventricles in the brain. Within each ventricle is a region of choroid plexus which produces the circulating cerebrospinal fluid (CSF). The ventricular system is continuous with the central canal of the spinal cord from the fourth ventricle, allowing for the flow of CSF to circulate.

<span class="mw-page-title-main">Intracranial pressure</span> Pressure exerted by fluids inside the skull and on the brain

Intracranial pressure (ICP) is the pressure exerted by fluids such as cerebrospinal fluid (CSF) inside the skull and on the brain tissue. ICP is measured in millimeters of mercury (mmHg) and at rest, is normally 7–15 mmHg for a supine adult. This equals to 9–20 cmH2O, which is a common scale used in lumbar punctures. The body has various mechanisms by which it keeps the ICP stable, with CSF pressures varying by about 1 mmHg in normal adults through shifts in production and absorption of CSF.

<span class="mw-page-title-main">Choroid plexus</span> Structure in the ventricles of the brain

The choroid plexus, or plica choroidea, is a plexus of cells that arises from the tela choroidea in each of the ventricles of the brain. Regions of the choroid plexus produce and secrete most of the cerebrospinal fluid (CSF) of the central nervous system. The choroid plexus consists of modified ependymal cells surrounding a core of capillaries and loose connective tissue. Multiple cilia on the ependymal cells move to circulate the cerebrospinal fluid.

Normal pressure hydrocephalus (NPH), also called malresorptive hydrocephalus, is a form of communicating hydrocephalus in which excess cerebrospinal fluid (CSF) builds up in the ventricles, leading to normal or slightly elevated cerebrospinal fluid pressure. The fluid build-up causes the ventricles to enlarge and the pressure inside the head to increase, compressing surrounding brain tissue and leading to neurological complications. Although the cause of idiopathicNPH remains unclear, it has been associated with various co-morbidities including hypertension, diabetes mellitus, Alzheimer's disease, and hyperlipidemia. Causes of secondary NPH include trauma, hemorrhage, or infection. The disease presents in a classic triad of symptoms, which are memory impairment, urinary frequency, and balance problems/gait deviations. The disease was first described by Salomón Hakim and Raymond Adams in 1965.

<span class="mw-page-title-main">Interventricular foramina (neuroanatomy)</span> It is part of diencephalon that makes connection between lateral and third ventricular

In the brain, the interventricular foramina are channels that connect the paired lateral ventricles with the third ventricle at the midline of the brain. As channels, they allow cerebrospinal fluid (CSF) produced in the lateral ventricles to reach the third ventricle and then the rest of the brain's ventricular system. The walls of the interventricular foramina also contain choroid plexus, a specialized CSF-producing structure, that is continuous with that of the lateral and third ventricles above and below it.

<span class="mw-page-title-main">Arachnoid cyst</span> Medical condition

Arachnoid cysts are cerebrospinal fluid covered by arachnoidal cells and collagen that may develop between the surface of the brain and the cranial base or on the arachnoid membrane, one of the three meningeal layers that cover the brain and the spinal cord. Primary arachnoid cysts are a congenital disorder whereas secondary arachnoid cysts are the result of head injury or trauma. Most cases of primary cysts begin during infancy; however, onset may be delayed until adolescence.

<span class="mw-page-title-main">Dandy–Walker malformation</span> Congenital malformation of the cerebellar vermis

Dandy–Walker malformation (DWM), also known as Dandy–Walker syndrome (DWS), is a rare congenital brain malformation in which the part joining the two hemispheres of the cerebellum does not fully form, and the fourth ventricle and space behind the cerebellum are enlarged with cerebrospinal fluid. Most of those affected develop hydrocephalus within the first year of life, which can present as increasing head size, vomiting, excessive sleepiness, irritability, downward deviation of the eyes and seizures. Other, less common symptoms are generally associated with comorbid genetic conditions and can include congenital heart defects, eye abnormalities, intellectual disability, congenital tumours, other brain defects such as agenesis of the corpus callosum, skeletal abnormalities, an occipital encephalocele or underdeveloped genitalia or kidneys. It is sometimes discovered in adolescents or adults due to mental health problems.

<span class="mw-page-title-main">Choroid plexus papilloma</span> Medical condition

Choroid plexus papilloma, also known as papilloma of the choroid plexus, is a rare benign neuroepithelial intraventricular WHO grade I lesion found in the choroid plexus. It leads to increased cerebrospinal fluid production, thus causing increased intracranial pressure and hydrocephalus.

<span class="mw-page-title-main">Colloid cyst</span> Medical condition

A colloid cyst is a non-malignant tumor in the brain. It consists of a gelatinous material contained within a membrane of epithelial tissue. It is almost always found just posterior to the foramen of Monro in the anterior aspect of the third ventricle, originating from the roof of the ventricle. Because of its location, it can cause obstructive hydrocephalus and increased intracranial pressure. Colloid cysts represent 0.5–1.0% of intracranial tumors.

<span class="mw-page-title-main">Cerebral shunt</span> Surgical implant to treat hydrocephalus

A cerebral shunt is a device permanently implanted inside the head and body to drain excess fluid away from the brain. They are commonly used to treat hydrocephalus, the swelling of the brain due to excess buildup of cerebrospinal fluid (CSF). If left unchecked, the excess CSF can lead to an increase in intracranial pressure (ICP), which can cause intracranial hematoma, cerebral edema, crushed brain tissue or herniation. The drainage provided by a shunt can alleviate or prevent these problems in patients with hydrocephalus or related diseases.

<span class="mw-page-title-main">Intraventricular hemorrhage</span> Bleeding into the brains ventricular system

Intraventricular hemorrhage (IVH), also known as intraventricular bleeding, is a bleeding into the brain's ventricular system, where the cerebrospinal fluid is produced and circulates through towards the subarachnoid space. It can result from physical trauma or from hemorrhagic stroke.

Choroid plexus tumors are a rare type of cancer that occur from the brain tissue called choroid plexus of the brain. Choroid plexus tumors are uncommon tumors of the central nervous system that account for 0.5–0.6% of intracranial neoplasms in people of all ages. Choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma are the three World Health Organization types for these neoplasms. Children under the age of five account for 10% of cases of choroid plexus tumors. In children and adults, respectively, the lateral ventricle and the fourth ventricle are common locations, About 5% of all choroid plexus tumors are located in the third ventricle. Along with other unusual places such the cerebellopontine angle, the Luschka foramen, or brain parenchyma, the third ventricle is a rare location for choroid plexus tumors. Together, atypical choroid plexus papilloma, and choroid plexus carcinoma make up around 25% of all choroid plexus tumors. Although there have been reports of third ventricle choroid plexus papillomas in people in their fifth decade of life, only 14% of choroid plexus tumors are reported to arise in infants. Most findings indicate that choroid plexus tumors have no sex predilection.

<span class="mw-page-title-main">Choroid plexus carcinoma</span> Medical condition

A choroid plexus carcinoma is a type of choroid plexus tumor that affects the choroid plexus of the brain. It is considered the worst of the three grades of chord plexus tumors, having a much poorer prognosis than choroid atypical plexus papilloma and choroid plexus papilloma. The disease creates lesions in the brain and increases cerebrospinal fluid volume, resulting in hydrocephalus.

<span class="mw-page-title-main">Cerebrospinal fluid leak</span> Medical condition

A cerebrospinal fluid leak is a medical condition where the cerebrospinal fluid (CSF) that surrounds the brain and spinal cord leaks out of one or more holes or tears in the dura mater. A CSF leak is classed as either spontaneous (primary), having no known cause, or nonspontaneous (secondary) where it is attributed to an underlying condition. Causes of a primary CSF leak are those of trauma including from an accident or intentional injury, or arising from a medical intervention known as iatrogenic. A basilar skull fracture as a cause can give the sign of CSF leakage from the ear, nose or mouth. A lumbar puncture can give the symptom of a post-dural-puncture headache.

<span class="mw-page-title-main">Aqueductal stenosis</span> Narrowing of the aqueduct of Sylvius

Aqueductal stenosis is a narrowing of the aqueduct of Sylvius which blocks the flow of cerebrospinal fluid (CSF) in the ventricular system. Blockage of the aqueduct can lead to hydrocephalus, specifically as a common cause of congenital and/or obstructive hydrocephalus.

References

  1. 1 2 De Brito Henriques, José Gilberto; Henriques, Karina Santos Wandeck; Filho, Geraldo Pianetti; Fonseca, Luiz Fernando; Cardoso, Francisco; Silva, Márcia Cristina Da (2007). "Bobble-head doll syndrome associated with Dandy–Walker syndrome: Case report". Journal of Neurosurgery: Pediatrics. 107 (3): 248–250. doi:10.3171/PED-07/09/248.
  2. 1 2 3 Zamponi, Nelia; Rychlicki, Franco; Trignani, Roberto; Polonara, Gabriele; Ruggiero, Maria; Cesaroni, Elisabetta (2005). "Bobble head doll syndrome in a child with a third ventricular cyst and hydrocephalus". Child's Nervous System. 21 (5): 350–354. doi:10.1007/s00381-004-1030-3.
  3. 1 2 Nellhaus, Gerhard (1967). "The Bobble-head Doll Syndrome: a 'Tic' With a Neuropathologic Basis". Pediatrics. 40 (2): 250–253. doi:10.1542/peds.40.2.250.
  4. 1 2 3 Benton, J. W.; Nellhaus, G.; Huttenlocher, P. R.; Ojemann, R. G.; Dodge, P. R. (1966). "The bobble-head doll syndrome: Report of a unique truncal tremor associated with third ventricular cyst and hydrocephalus in children". Neurology. 16 (8): 725–725. doi:10.1212/WNL.16.8.725.
  5. 1 2 Pollack, Ian F.; Schor, Nina F.; Martinez, A. Julio; Towbin, Richard (1995). "Bobble-head doll syndrome and drop attacks in a child with a cystic choroid plexus papilloma of the third ventricle: Case report". Journal of Neurosurgery. 83 (4): 729–732. doi:10.3171/jns.1995.83.4.0729.
  6. 1 2 Hagebeuk, Eveline E. O.; Kloet, Alfred; Grotenhuis, Joachim A.; Peeters, Elsa A. J. (2005). "Bobble-head doll syndrome successfully treated with an endoscopic ventriculocystocisternostomy: Case report and review of the literature". Journal of Neurosurgery: Pediatrics. 103 (3): 253–259. doi:10.3171/ped.2005.103.3.0253.
  7. 1 2 De Brito Henriques, Jose Gilberto. Electronic Interview. 15 October 2009.
  8. 1 2 Wiese, James A.; Gentry, Lindell R.; Menezes, Arnold H. (1985). "Bobble-head doll syndrome: Review of the pathophysiology and CSF dynamics". Pediatric Neurology. 1 (6): 361–366. doi:10.1016/0887-8994(85)90073-6.
  9. ↑ Pollack, Ian F. (March 1996). "Bobble-Head Doll Syndrome". Journal of Neurosurgery. 84 (3): 538. doi:10.3171/jns.1996.84.3.0538.
  10. ↑ Goikhman, Igor; Zelnik, Nathanel; Peled, Nathan; Michowiz, Shalom (1998). "Bobble-head doll syndrome: A surgically treatable condition manifested as a rare movement disorder". Movement Disorders. 13 (1): 192–194. doi:10.1002/mds.870130144.
  11. ↑ Mussell, Holly G.; Dure, Leon S; Percy, Alan K.; Grabb, Paul S. (1997). "Bobble-head doll syndrome: Report of a case and review of the literature". Movement Disorders. 12 (5): 810–814. doi:10.1002/mds.870120534.
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