Phenotype #0000171217

Individual ID	00226110
Associated disease	-
Phenotype details	neuronal ceroid lipofuscinosis, progressive tetraparesis, cognitive and motor decline; until 2.5y normal developmental milestones; 2.5y-language; 3.5y-motor regression, frequent falls, loss of manual skills and language abilities;10y-moderate intellectual disability, severe hypopostural spastic-dystonic tetraparesis associated with ballistic-choreic movements, severe dysarthria, drooling, reduced visual acuity both eyes, optic disks normal, electroretinogram normal; no epileptic seizures, awake EEG examination normal background activity with multifocal spike-and-wave complexes on posterior regions bilaterally and marked photoparoxysmal response, during sleep irregular pseudoperiodic polyspike-and-wave complexes; occasional myoclonic jerks limbs; MRI brain 8y/10-unremarkable; electron microscopy skin biopsy enlarged lysosomes containing storage material, including curved tubular aggregates
Diagnosis/Initial	neuronal ceroid lipofuscinosis
Inheritance	Isolated (sporadic)
Diagnosis/Definite	NEDAMSS
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Enza Maria Valente
Database submission license	No license selected
Created by	Enza Maria Valente
Date created	2019-02-26 17:46:21 +01:00 (CET)
Date last edited	2020-07-06 13:30:05 +02:00 (CEST)

Global Variome shared LOVD