| CEROID LIPOFUSCINOSIS, NEURONAL, 1 (SANTAVUORI-HALTIA-DISEASE) | |
| CLN1; CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET | |
|
256730
OMIM = Online Mendelian Inheritance of Men | |
|
228329 | |
| Palmitoyl-protein thioesterase 1; PPT1 | |
| 3.1.2.2 | |
| rare autosomal recessive - classic infantile-onset - late Infantile- and juvenile-onset - adult-onset | |
| Laboratory findings | Lymphocytes, vacuoles (blood) Palmitoyl-protein thioesterase-1 dec (leucocytes) |
| Symptoms | abnormal movement cerebral atrophy developmental regression epilepsy microcephaly (<2 SD for age) muscle atrophy retinopathy seizures, myoclonic ataxia behavior, hyperactive, restless cerebellar atrophy or hypoplasia dystonia myoclonus optic atrophy seizures speech development, delayed, abnormal speech difficulties white matter changes, abnormalities blindness, visual loss, visual impairment chorea or athetosis conjunctival biopsy, abnormal contractures, joints CT, brain, abnormalities [-] dementia depression dysarthria early death EEG abnormalities [-] hypertonia, spasticity hypotonia irritability lethargy, drowsiness, apathy maculopathy mental retardation motor retardation MRI, brain, abnormalities [-] MRI, brain, white matter abnormalities [-] onset, adolescent onset, adulthood onset, childhood onset, fetus onset, infancy onset, neonatal onset, variable age psychomotor retardation psychosis pyramidal signs retinal or macular degeneration seizures, tonic clonic skin biopsy, abnormal tremor or twitching VEP (visual evoked potentials), abnormal |