Presentation
Neonates present with microcephaly, central apnea requiring respiratory support, dysmorphism (sloping forehead, midface hypoplasia, micrognathia), contractures (50%) ”arthrogryposis”, severe clonus,and hypertonia. [tellmegen.cl]
Neurologic
- Seizure
They have seizures plus motor involvement. \r\n \r\n The types of pontocerebellar hypoplasia related to the TSEN54 gene are 2, 4 and 5. [tellmegen.cl]
Treatment
\r\n \r\n The treatment for all types of pontocerebellar hypoplasia is only symptomatic and the prognosis is bad, since most patients die during infancy or childhood. \r\n [tellmegen.cl]
Prognosis
\r\n \r\n The treatment for all types of pontocerebellar hypoplasia is only symptomatic and the prognosis is bad, since most patients die during infancy or childhood. \r\n [tellmegen.cl]