abducens palsy

Hypotonia, Infantile, with Psychomotor Retardation

Clinical Characteristics
Ocular Features: 

Abducens nerve palsy with characteristic strabismus (esotropia) can be present.

Systemic Features: 

Mothers may note decreased fetal movements.  Severe generalized hypotonia can be evident at birth, requiring tube feeding and respiratory assistance.  Death may occur before 6 months of age but with intense supportive care children can live for several years.  Brain imaging may show enlarged lateral ventricles and thinning of the corpus callosum in some individuals but no abnormalities in others.  Muscle biopsies can show severe myopathic changes with increased fibrosis, variation in fiber size, and small atrophic fibers.  Cardiac septal defects have been reported.  Delayed psychomotor development is a common feature.

Genetics

Homozygous mutations in the CCDC174 gene (3p25.1) are responsible for this condition so far reported in only two families with 6 children affected.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment is known for this condition.

References
Article Title: 

CDC174, a novel

Volodarsky M, Lichtig H, Leibson T, Sadaka Y, Kadir R, Perez Y, Liani-Leibson
K, Gradstein L, Shaco-Levy R, Shorer Z, Frank D, Birk OS. CDC174, a novel
component of the exon junction complex whose mutation underlies a syndrome of
hypotonia and psychomotor developmental delay. Hum Mol Genet. 2015 Nov
15;24(22):6485-91.

PubMed ID: 
26358778

Wildervanck Syndrome

Clinical Characteristics
Ocular Features: 

The ocular manifestations of this disorder are limited to Duane syndrome and abducens palsy.

Systemic Features: 

Congenital perceptive deafness is due to a bony malformation of the inner ear.   A Klippel-Feil cervical malformation consisting of a low hairline, limited neck mobility, and short neck secondary to cervical fusion (usually involving the atlas and axis) is present as well. The presence of neck webbing (pterygium colli) can exaggerates the short neck appearance.  Diastematomyelia of the lower medulla and cervical cord has been reported in a child who also had tonsillar herniation and hydrocephalus of all three ventricles.

A variety of inconsistent anomalies including spine deformities, cardiac malformations, anomalies of the genitourinary system and somatic growth retardation have also been reported.

The KFS malformation can occur alone or in association with other syndromes.

Genetics

This is a heritable syndrome that affects primarily females.  The inheritance pattern, however, is not clear.   Sex-linked dominance with lethality in the male has been proposed but others have suggested multifactorial inheritance.  Most cases occur sporadically and no responsible genes have been identified.

Treatment
Treatment Options: 

Patients might benefit from cochlear implants as well as strabismus surgery to correct a head turn.

References
Article Title: 
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