Bobble-head doll syndrome
Bobble-head doll syndrome is a rare movement disorder that is usually associated with lesions involving the third ventricle. It is characterised by stereotypical rhythmic up-and-down or side-to-side head movements. The pathophysiology and anatomical basis for this unusual manifestation is still a subject of intense scrutiny.
a 1.5-year-old Asian-Syrian girl who presented with a history of excessive head nodding for 3 months that increased with walking, emotions, and stress; decreased during periods of concentration; and was absent during sleep. On physical examination, she was alert and normal, with no medical history. Laboratory assessment and ophthalmological examination were normal. Cranial magnetic resonance imaging demonstrated a well-defined thin-walled suprasellar arachnoid cyst measuring 3 × 5 × 7 cm that obstructed the foramina of Monro, with resulting hydrocephalus ventriculomegaly. The patient underwent endoscopic cystoventriculostomy and cystocisternostomy for the suprasellar arachnoid cyst. During the 6 months of follow-up, the head bobbing disappeared completely, and her growth was normal.
Despite the rareness of bobble-head doll syndrome, it is considered an important condition that must be investigated early to detect the cause and treated promptly to avoid potential complications 1).
The syndrome has never been described in a patient with both hydranencephaly and Chiari type 3 malformation.
We describe a 2-year-old female patient who presented with congenital hydrocephalus, an occipital encephalocele and rhythmic bobbling of the head. Imaging investigation revealed a Chiari type 3 malformation and hydranencephaly. The patient was taken to theatre for a ventriculoperitoneal shunt insertion, and at day 3 post operatively, the patient had a markedly decreased head circumference and a decrease in the frequency of the bobbling of the head. A further review at 2 weeks showed that the bobbling of the head had ceased. Although the pathophysiology of bobble-head doll syndrome is yet to be fully understood, there has been postulation of either a third ventricular enlargement or a cerebellar dysfunction to explain bobble-head doll syndrome. Our case illustrates that the pathophysiology is most likely multifactorial as illustrated by the fact that by just addressing the high intracranial pressure with a shunt was sufficient to treat the condition 2).