An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation.

07:00 EST 6th February 2019 | BioPortfolio

Summary of "An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation."

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. 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.


Journal Details

This article was published in the following journal.

Name: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
ISSN: 1433-0350


DeepDyve research library

PubMed Articles [16999 Associated PubMed Articles listed on BioPortfolio]


The objective is to review a case of pneumoparotitis and to discuss how knowledge of this unique presentation is important when making differential diagnoses in emergency medicine. A patient with recu...

Unusual Clinical Presentation and Association of Cranial Dermoid Tumor and Tethered Cord Syndrome.

Tethered cord syndrome (TCS), a neurological disorder characterized by the lower settlement of the conus medullaris, is a congenital spinal disease which is caused by split cord syndrome, meningomyelo...

An unusual presentation of papillary thyroid carcinoma in a pediatric patient: A case report.

Cystic neck masses in the pediatric population are common but rarely concerning for malignancy. Given this typically benign nature, they are frequently managed conservatively. Here we present an unusu...

Isolated tricuspid valve Staphylococcus lugdunensis endocarditis in patient with a KBG syndrome.

Both KBG syndrome (approximately 50 patients worldwide) and isolated tricuspid valve Staphylococcus lugdunensis endocarditis are very rare entities. The KBG syndrome is a multiple congenital anomaly c...

Bobblehead-Doll Syndrome.

Clinical Trials [9618 Associated Clinical Trials listed on BioPortfolio]

Clinical Presentation of Melioidosis in Head and Neck Region

Melioidosis in head and neck was observed including clinical presentation, diagnosis with titer, and result of treatment.

Effects of Bedside Compared to Outside the Room Case Presentation

Patient case presentations during ward rounds can take place at the bedside or outside the room. The best approach to patient case presentation is yet unclear. Thus, the overall aim of thi...

Presentation of Lumbar Disc and Reduction of Symptoms

The trial aims to assess the hypothesis that presentation of the disc material to the patient following a lumbar microdiscectomy would positively influence the improvement in their leg and...

Reversible Cerebral Vasoconstriction Syndrome With Concomitant Transient Global Amnesia

Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by severe, unusual headaches associated with multifocal segmental vasoconstriction of the intracerebral arteries. In a...

DOAC in Unusual Site Venous Thrombosis

Unusual site venous thromboembolism (VTE) refers to thrombosis occurring in venous districts outside the veins of the lower extremities and the pulmonary arteries, and includes splanchnic ...

Medical and Biotech [MESH] Definitions

A factitious disorder characterized by habitual presentation for hospital treatment of an apparent acute illness, the patient giving a plausible and dramatic history, all of which is false.

An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms.

Presentation devices used for patient education and technique training in dentistry.

The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging.

A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.

Quick Search


DeepDyve research library

Relevant Topic

Congenital Diseases
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...

Searches Linking to this Article