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encefalopathie door prosaposinedeficiëntie (aandoening)
encefalopathie door prosaposinedeficiëntie
gecombineerde prosaposinedeficiëntie
encefalopathie door deficiëntie van prosaposine
Encephalopathy due to prosaposin deficiency
Combined prosaposin deficiency
A lysosomal storage disease belonging to the group of sphingolipidoses. It is very rare with less than 10 cases reported in the literature so far. Clinically, it is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course. The neurological signs and symptoms include hypotonia, massive myoclonic bursts, abnormal ocular movements and dystonia. Grand mal seizures and seizures triggered by tactile stimuli have been described. Patients also develop hepatosplenomegaly. Death usually occurs from respiratory failure following repeated pulmonary infections. The disease is caused by mutations in the PSAP gene (10q21) leading to absence or non-functionality of the prosaposin protein. The mode of inheritance is autosomal recessive.
Id720864008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2
CorrelationSNOMED CT source code to target map code correlation not specified