Document Detail


Neurological manifestations of the oculodentodigital dysplasia syndrome.
MedLine Citation:
PMID:  12021949     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Oculodentodigital dysplasia (ODDD) (MIM 164200) is a rare autosomal dominant inherited disorder affecting the development of the face, eyes, limbs and dentition. Neurological complications are thought to be occasional manifestations of the disorder. This report illustrates the neurological manifestations by a pedigree of two ODDD patients with spastic paraparesis, cerebral white matter hyperintensity and basal ganglia hypointensity. A systematic review of the English, French, German and Italian literature on ODDD is also provided to summarize the neurological manifestations of the disorder. 243 previously described ODDD cases presented a spectrum of neurological manifestation including spasticity (25), subcortical white matter lesions (9) and basal ganglia changes (6) on MRI. Additional findings consisted of gaze palsy and squinting (28), bladder and bowel disturbances (21), visual loss (20) and blindness (4), hearing loss (15), ataxia (11), nystagmus (9), muscle weakness (5) and paresthesias (3). Neurological manifestations, including spasticity associated with MRI changes, are an underrecognized feature in the ODDD phenotype. A clinical guide to the neurological manifestations of ODDD may assist in the assessment of patients with this condition.
Authors:
Tobias Loddenkemper; Kerstin Grote; Stefan Evers; Michael Oelerich; Florian Stögbauer
Related Documents :
16197339 - Immunotherapy for paraneoplastic neurological disorders.
9553849 - Disorders of micturition in neurological patients. a clinical study of 786 patients.
571979 - Capgras syndrome: a reduplicative phenomenon.
15262239 - Positron emission tomography in clinical neurology.
7170019 - Potentiation of hexacarbon-neurotoxicity by methyl-ethyl-ketone (mek) and other substan...
6338589 - Alzheimer's disease: a disorder of cortical cholinergic innervation.
12444349 - Megadose intranasal methylphenidate (ritalin) abuse in adult attention deficit hyperact...
24453529 - Nutrient intakes of men and women collegiate athletes with disordered eating.
22343479 - Clinical utility of the vanderbilt adhd diagnostic parent rating scale comorbidity scre...
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of neurology     Volume:  249     ISSN:  0340-5354     ISO Abbreviation:  J. Neurol.     Publication Date:  2002 May 
Date Detail:
Created Date:  2002-05-21     Completed Date:  2002-08-09     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  584-95     Citation Subset:  IM    
Affiliation:
Department of Neurology, Westfälische Wilhelms-Universität, Münster, Germany.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
Brain / abnormalities*,  pathology,  physiopathology*
Chromosomes, Human, Pair 6 / genetics*
Cranial Nerve Diseases / etiology,  pathology,  physiopathology
Eye Abnormalities / complications*
Female
Hand Deformities, Congenital / complications*
Humans
Magnetic Resonance Imaging
Male
Mental Retardation / etiology,  pathology,  physiopathology
Middle Aged
Muscle Spasticity / etiology,  pathology,  physiopathology
Mutation / genetics
Nerve Fibers, Myelinated / pathology
Nervous System Malformations / pathology,  physiopathology*
Phenotype
Tooth Abnormalities / complications*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Differential intracellular expression of CCR5 and chemokines in multiple sclerosis subtypes.
Next Document:  Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive respon...