Biomaterial Database

[Generalized ceroid-lipofuscinosis]. 1979

V López Martín, and A Martínez Bermejo, and I Pascual Castroviejo

A histological verified case of late infantil type of generalized ceroid-lipofuscinosis of Jansky-Bielchowsky syndrome is reported. Paroxismal activity provoked by a low frequency fotostimulation or Pampiglione phenomenon is registrated at the E.E.G. An analysis about the clincial findings and a review of the Pampiglione phenomenon in the medical literature is made, being stimated this phenomenon of a high value for the diagnosis fo the type II or late infantil type of generalized ceroid-lipofuscinosis.

UI	MeSH Term	Description	Entries
D008064	Lipidoses	Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.	Lipidosis,Lipoidosis
D008297	Male		Males
D009896	Optic Atrophy	Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.	Atrophy, Optic
D012162	Retinal Degeneration	A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)	Degeneration, Retinal,Degenerations, Retinal,Retinal Degenerations
D002524	Cerebellar Ataxia	Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)	Adiadochokinesis,Ataxia, Cerebellar,Cerebellar Dysmetria,Dysmetria,Cerebellar Hemiataxia,Cerebellar Incoordination,Hypermetria,Adiadochokineses,Ataxias, Cerebellar,Cerebellar Ataxias,Cerebellar Dysmetrias,Cerebellar Hemiataxias,Cerebellar Incoordinations,Dysmetria, Cerebellar,Dysmetrias,Dysmetrias, Cerebellar,Hemiataxia, Cerebellar,Hemiataxias, Cerebellar,Hypermetrias,Incoordination, Cerebellar,Incoordinations, Cerebellar
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D004569	Electroencephalography	Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.	EEG,Electroencephalogram,Electroencephalograms
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes