Items tagged “syndrome”

259 results found
Article

Millard-Gubler syndrome

Millard-Gubler syndrome, also known as ventral pontine syndrome, is one of the crossed paralysis syndromes, which are characterized by cranial nerves VI and VII palsies with contralateral body motor or sensory disturbances 1-3. Clinical presentation ipsilateral facial and contralateral body he...
Case

Mayer-Rokitansky-Küster-Hauser syndrome

  Diagnosis almost certain
Mauricio Macagnan
Published 21 Dec 2016
80% complete
MRI Diagram
Case

Dorsal brainstem syndrome

  Diagnosis almost certain
Manoj K V
Published 25 Jan 2017
77% complete
MRI
Article

Raymond syndrome

Raymond syndrome is a posterior circulatory stroke syndrome due to a lesion in the ventral medial mid-pons. It is an extremely rare condition, with only a handful of cases described in the literature. Clinical presentation Clinically, 2 subtypes have been reported 1: classic type abducens ne...
Case

Herlyn-Werner-Wunderlich syndrome

  Diagnosis certain
Hamdy Mohammed Ibrahim
Published 20 May 2017
95% complete
MRI
Article

Babinski-Nageotte syndrome

Babinski-Nageotte syndrome is thought to be a brainstem stroke syndrome in between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome), but distinct to that of Cestan-Chenais syndrome 1,2.  Terminology In many texts this eponymous syn...
Article

Adie pupil

Adie pupil (also known as tonic pupil) is caused by idiopathic degeneration of the ciliary ganglion, which sometimes occurs following a viral or bacterial illness. It is usually unilateral and typically affects young females 1. Adie pupil represents a large dilated "tonic pupil", which does not...
Case

Klippel-Trénaunay-Weber syndrome

  Diagnosis certain
Michael P Hartung
Published 07 Jan 2019
92% complete
CT
Article

Neurofibromatosis type 1 (mnemonic)

Clinical diagnosis requires the presence of at least two criteria to confirm the presence of neurofibromatosis type 1 (NF1) 1. These diagnostic criteria can be remembered with the mnemonic: CAFE SPOT Mnemonic C: café-au-lait spots (greater than six seen during one year) A: axillary or ingui...
Case

Yunis-Varón syndrome

  Diagnosis certain
Fabien Ho
Published 09 Mar 2019
89% complete
X-ray CT Ultrasound MRI
Case

Multiple cerebral cavernous malformations

  Diagnosis certain
James Harvey
Published 09 Sep 2019
98% complete
MRI CT
Article

DICER1 syndrome

DICER1 syndrome is a rare autosomal dominant disorder predisposing individuals to the development of multiple tumor types. Epidemiology DICER1 syndrome most commonly manifests in children, adolescents and young adults 8. Clinical presentation The clinical presentation will depend on the pa...
Case

Van Wyk–Grumbach syndrome

  Diagnosis almost certain
Ammar Haouimi
Published 05 Dec 2020
77% complete
Ultrasound X-ray MRI
Case

Multiple osteochondromas

  Diagnosis certain
Tito Alfredo Atencia Rincón
Published 14 Jun 2022
93% complete
CT Pathology
Article

Cestan-Chenais syndrome

Cestan-Chenais syndrome is a rare brainstem stroke syndrome with features between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome), but distinct to that of Babinski-Nageotte syndrome 1,2.  Clinical presentation Cestan-Chenais syndr...
Case

Zollinger-Ellison syndrome

  Diagnosis almost certain
Kareem Mohamed
Published 03 Jul 2023
80% complete
CT
Article

12q14 microdeletion syndrome

12q14 microdeletion syndrome or osteopoikilosis-short stature-intellectual disability syndrome is caused by heterozygous deletion at the region of 12q14. The microdeletion affects the LEMD3 gene which has already been implicated in osteopoikilosis. Epidemiology Prevalence is <1 in 1 million li...
Case

Right-sided aortic arch in Goldenhar syndrome

  Diagnosis certain
Brenda Gabriela Medina
Published 17 Dec 2023
97% complete
CT
Case

Mayer-Rokitansky-Küster-Hauser syndrome

  Diagnosis certain
Mohammad Taghi Niknejad
Published 09 Feb 2024
92% complete
CT