Congenital Cranial Dysinnervation Disorder: An Unusual Phenotype With Multiple Cranial Neuropathies and Novel Neuroimaging Findings.

J Neuroophthalmol

Section of Pediatric Neurology (MSS, SEM), Children's Hospital; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada; Section of Pediatric Ophthalmology (CM), Children's Hospital; Department of Ophthalmology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada; Section of Pediatric Radiology (JW), Children's Hospital; Department of Radiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada.

Published: September 2019

Congenital cranial dysinnervation disorders result from a maldevelopment of brainstem nuclei and/or cranial nerves. In some cases, specific genetic abnormalities have been identified. We expand the clinical phenotype of these disorders with the report of a 28-month-old girl who was initially evaluated for seizures and was found to have right sixth nerve palsy, small optic discs with reduced vision in her right eye. Her development was delayed. Brain MRI showed multiple abnormalities involving other cranial nerves, the optic chiasm and brainstem. Her developmental delay and seizure disorder suggest additional cortical involvement.

Download full-text PDF

Source
http://dx.doi.org/10.1097/WNO.0000000000000762DOI Listing

Publication Analysis

Top Keywords

congenital cranial
8
cranial dysinnervation
8
cranial nerves
8
dysinnervation disorder
4
disorder unusual
4
unusual phenotype
4
phenotype multiple
4
cranial
4
multiple cranial
4
cranial neuropathies
4

Similar Publications

BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.

View Article and Find Full Text PDF

Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder.

Diagnostics (Basel)

January 2025

Department of Dentistry, Faculty of Dentistry, "Vasile Goldiș" Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania.

This is a fatal case of multiple complicated congenital anomalies displaying several symptoms consistent with hydrolethalus syndrome. The newborn's phenotype is characterized by a combination of serious anatomical abnormalities such as open-book cerebral hemispheres, defective lobulation of the lungs (one lobe on the left, two on the right), a smaller right kidney, a smooth cerebral surface, and a specific keyhole-shaped defect in the skull base, primarily associated with hydrocephalus.

View Article and Find Full Text PDF

Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.

View Article and Find Full Text PDF

[Diagnostic and therapeutic approach to unilateral posterior vertical insufficiency].

Orthod Fr

January 2025

Nantes Université, Université Angers, CHU Nantes, INSERM, CNRS, CRCI2NA, 44000 Nantes, France

Introduction: The aim of this article is to present the diagnostic and therapeutic approach to unilateral posterior vertical insufficiency.

Material And Methods: The authors describe the management protocol.

Results: Posterior vertical insufficiency (PVI) manifests clinically as obliquity of the maxillo-mandibular occlusal plane and bicommissural line, and deviation of the chin.

View Article and Find Full Text PDF

Clinical study on deciduous fused teeth and inherited permanent teeth.

Hua Xi Kou Qiang Yi Xue Za Zhi

February 2025

Dept. of Preventive Oral Health, Suzhou Stomatological Hospital, Suzhou 215000, China.

Objectives: This study aimed to investigate the clinical characteristics of deciduous fused teeth and their inherited permanent-tooth performance type by using panoramic radiographs.

Methods: A total of 14 404 panoramic radiographs of 3- to 6-year-old children with deciduous dentition were collected from January 2023 to July 2024. The incidence of deciduous fused teeth was observed, and the abnormality of permanent teeth was recorded.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!