PCH3

Pontocerebellar Hypoplasia 3

Clinical Characteristics
Ocular Features: 

Optic atrophy is an inconsistent feature (sometimes even unilateral) of patients with PCH.  Cortical blindness has also been described.  There may be dysmorphic facial features such as wide palpebral fissures, epicanthal folds, and prominent eyes. 

Systemic Features: 

Infants are generally small and hypotonic at birth.  The skull is small and often brachycephalic.  The ears are large and low-set and  facial dysmorphism (full cheeks, long philtrum) is present.  Infants have poor head control and truncal ataxia.  Later, hyperreflexia and spasticity become evident.  Seizures are common.  Developmental delays, both somatic and mental, are nearly universal and large joint contractures are often seen. Many of these signs are progressive.  

Brain imaging generally reveals cerebral and cerebellar atrophy, a hypoplastic corpus callosum, a small cerebellar vermis, and a hypoplastic brainstem.  Short stature is a feature and early death often occurs.

Genetics

PCH3 is one of at least 10 syndromes belonging to a clinically and genetically heterogeneous group of conditions known as pontocerebellar hypoplasias.  Members of this group, while individually rare, nevertheless collectively account for a significant proportion of what was once labeled cerebral palsy.

PCH3 results from homozygous mutations in the PCLO gene (7q21). 

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment is available for the general disorder.

References
Article Title: 

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28;84(17):1745-50.

PubMed ID: 
25832664
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