Bobble-head doll syndrome associated with Dandy–Walker syndrome

Abstract

Bobble-head doll syndrome (BHDS) presents in childhood and is usually associated with lesions of the third ventricle. This disorder is characterized by stereotypical head movements of the type "yes-yes" (up and down) at a frequency of 2 to 3 Hz. Rarely, movements of the type "no-no" (side-to-side) are described. There are a few hypotheses to explain the mechanism responsible for BHDS, but its real pathophysiological characteristics are still unknown. The authors describe the case of a child born with hydrocephalus and Dandy-Walker syndrome. A ventriculoperitoneal shunt was implanted in the child because of progressive head enlargement. One year after shunt placement, she began making frequent horizontal head movements of the type "no-no". There were no other signs or symptoms. Imaging studies demonstrated small ventricles and a posterior fossa cyst with no signs of hypertension. The child's growth, development, and head circumference (within the 5th percentile) remained satisfactory. Three aspects of this case were of interest: the association of BHDS with Dandy-Walker syndrome, the rare occurrence of BHDS of the "no-no" type, and the absence of third ventricle dilation. The authors' findings support the hypothesis that cerebellar malformations themselves can

Persistent figure‐eight and side‐to‐side head shaking is a marker for rhombencephalosynapsis

“…In addition to a few reports that note head shaking in conjunction with RES, side‐to‐side and figure‐8 movements have been described in association with aqueductal stenosis, Dandy‐Walker malformation, Joubert syndrome, occipital encephalocele with near‐absent cerebellum (D.D., personal observation), and in 2 children with cerebellar lesions presumably acquired early in development (H.M.T., personal observation) . In contrast to patients with RES, the majority of patients with these other disorders do not exhibit head shaking.…”

Figure of Eight Stereotypies in a Young Girl With a Prenatal Cerebellar Injury

“…The cerebellum sends excitatory projections directly to the thalamus, amygdala, ventral tegmental area, and dorsal raphe nuclei and indirectly to the basal ganglia through the thalamus and amygdala . Furthermore, there are multiple reports, including this case, of stereotypies associated with cerebellar malformation . Cerebellar strokes in adults have also been reported to cause stereotypic movements, including rubbing thumbs against the index finger and unilateral movements of the hand and extremity .…”

“…Whereas the precise underlying pathophysiological mechanism for these stereotypic head movements remains unknown, several reports have suggested an association with abnormalities of the cerebellum and posterior fossa. Either an up‐and‐down (“yes”), side‐side (“no”), or shoulder‐to‐shoulder movement has been reported in children with lesions of the third ventricle (bobble‐headed doll syndrome) and in those with Dandy Walker syndrome . A persistent “figure of eight” head‐nodding stereotypy is well described in association with rhombencephalosynapsis (RES), a brain malformation with partial or complete absence of the cerebellar vermis with fusion of the cerebellar hemispheres across the midline .…”

Bobble‐Head Doll Syndrome in a Child with Suprasellar Arachnoid Cyst

“…The syndrome is usually seen with lesions causing third ventricle dilatation such as suprasellar or third ventricular cysts and aqueductal stenosis . Other rare pathological abnormalities described in association with this include shunt dysfunctions, trapped fourth ventricle, congenital aqueductal web, Dandy‐Walker syndrome, and cerebellar malformations . Endocrinopathies such as precocious puberty, obesity, and growth delay are reported in BHDS.…”

“…1,[5][6][7] Other rare pathological abnormalities described in association with this include shunt dysfunctions, trapped fourth ventricle, congenital aqueductal web, Dandy-Walker syndrome, and cerebellar malformations. 1,4,6,8 Endocrinopathies such as precocious puberty, obesity, and growth delay are reported in BHDS.…”