Neuropareidolia: diagnostic clues apropos of visual illusions

Diagnosis in neuroimaging involves the recognition of specific patterns indicative of particular diseases. Pareidolia, the misperception of vague or obscure stimuli being perceived as something clear and distinct, is somewhat beneficial for the physician in the pursuit of diagnostic strategies. Animals may be pareidolically recognized in neuroimages according to the presence of specific diseases. By associating a given radiological aspect with an animal, doctors improve their diagnostic skills and reinforce mnemonic strategies in radiology practice. The most important pareidolical perceptions of animals in neuroimaging are the hummingbird sign in progressive supranuclear palsy, the panda sign in Wilson's disease, the panda sign in sarcoidosis, the butterfly sign in glioblastomas, the butterfly sign in progressive scoliosis and horizontal gaze palsy, the elephant sign in Alzheimer's disease and the eye-of-the-tiger sign in pantothenate kinase-associated neurodegenerative disease.

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Horizontal Gaze Palsy and Rapidly Progressive Scoliosis: Typical Findings in ROBO3 Mutations

Neuropediatrics ◽

10.1055/s-0034-1390618 ◽

2014 ◽

Vol 45 (S 01) ◽

Author(s):

J. Koch ◽

F. Landauer ◽

T. Keindl ◽

M. Sloman

Keyword(s):

Progressive Scoliosis ◽

Horizontal Gaze ◽

Gaze Palsy

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MRI- and neurophysiological findings in a case of Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS)

Neuropediatrics ◽

10.1055/s-2006-974115 ◽

2006 ◽

Vol 37 (06) ◽

Author(s):

O Hußmann ◽

BA Neubauer ◽

A Hahn

Keyword(s):

Progressive Scoliosis ◽

Horizontal Gaze ◽

Gaze Palsy

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Synergistic convergence and split pons in horizontal gaze palsy and progressive scoliosis in two sisters

Indian Journal of Ophthalmology ◽

10.4103/0301-4738.77012 ◽

2011 ◽

Vol 59 (2) ◽

pp. 162 ◽

Cited By ~ 7

Author(s):

NitinR Jain ◽

Jitendra Jethani ◽

Kalpana Narendran ◽

L Kanth

Keyword(s):

Progressive Scoliosis ◽

Horizontal Gaze ◽

Gaze Palsy

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Horizontal Gaze Palsy, Familial (with progressive scoliosis, 11q23-q25)

Encyclopedia of Genetics, Genomics, Proteomics and Informatics ◽

10.1007/978-1-4020-6754-9_7827 ◽

2008 ◽

pp. 906-906

Keyword(s):

Progressive Scoliosis ◽

Horizontal Gaze ◽

Gaze Palsy

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Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph17124467 ◽

2020 ◽

Vol 17 (12) ◽

pp. 4467

Author(s):

Elena Pinero-Pinto ◽

Verónica Pérez-Cabezas ◽

Cristina Tous-Rivera ◽

José-María Sánchez-González ◽

Carmen Ruiz-Molinero ◽

...

Keyword(s):

Systematic Review ◽

Rapid Progression ◽

Childhood And Adolescence ◽

Progressive Scoliosis ◽

Chromosome 11Q23 ◽

Horizontal Gaze ◽

Meta Analyses ◽

Gaze Palsy ◽

Made In

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, inherited disorder characterized by a congenital absence of conjugate horizontal eye movements with progressive scoliosis developing in childhood and adolescence. Mutations in the Roundabout (ROBO3) gene located on chromosome 11q23–25 are responsible for the development of horizontal gaze palsy and progressive scoliosis. However, some studies redefined the locus responsible for this pathology to a 9-cM region. This study carried out a systematic review in which 25 documents were analyzed, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards. The search was made in the following electronic databases from January 1995 to October 2019: PubMed, Scopus, Web of Science, PEDRO, SPORT Discus, and CINAHL. HGPPS requires a multidisciplinary diagnostic approach, in which magnetic resonance imaging might be the first technique to suggest the diagnosis, which should be verified by an analysis of the ROBO3 gene. This is important to allow for adequate ocular follow up, apply supportive therapies to prevent the rapid progression of scoliosis, and lead to appropriate genetic counseling.

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