Phenotype #0000302271
| Individual ID |
00410165 |
| Associated disease |
- |
| Phenotype details |
9y: peripheral visual field impairment, rapidly progressed toward complete bilateral blindness in two years; 28y: two generalized tonic-clonic seizures; evident cognitive decline with prominent language impairment, behavior disorders and mood depression; first evaluation (31y): neurological evaluation: slight disorientation for time and space, impairment of long-term memory, dysphasia, mild cerebellar signs and fundus: bilateral diffuse sub-atrophy. Interictal electroencephalograms: generalized background slowing and epileptic discharges over the fronto-temporal regions with a left sided emphasis, enhanced during drowsiness; no muscle potentials on surface electromyography; . Somatosensory evoked potentials after stimulation of median nerve: cortical responses with markedly increased amplitude; electroretinogram and visual-evoked potentials: absent; magnetic resonance imaging: slight cortical atrophy, neuropsychological evaluation: severe cognitive decline (Mini Mental State Examination, correct score: 10.75, cut-off <27; Brief Battery for Mental Deterioration assessment: unscorable); CPK and LDH levels: normal, electromyography; no myopathic features; electrocardiogram and echocardiogram: normal. 33y: further cognitive and motor deterioration, with seizure relapse, behavioral abnormalities and impaired ambulation; multifocal asynchronous muscle jerks, extrapyramidal signs and dysphagia; electroencephalography-electromyography polygraphic: frequent multifocal myoclonias sometimes occurring in long-lasting and pseudo-rhythmic sequences with clear-cut cortical correlates; increased CPK levels (655 U/L; cut-off <170), echocardiogram remained normal. 31y: electron microscopy of skin biopsy: cytoplasmic vacuoles containing parallel osmiophilic lamellar inclusion sometimes arranged in honeycomb-like structures recognizable as finger prints, associated with occasional granular inclusions or rectilinear profiles in at least two cellular types; muscle biopsy: autophagic vacuoles strongly reactive for the lysosomal enzyme acid phosphatase in the cytoplasm of many fibers; multiple basophilic, autofluorescent cytoplasmic inclusions also present; vacuoles showed sarcolemmal features having immunoreactivity for the sarcolemmal protein dystrophin and the human leukocyte antigen class 1 (HLA1); activity of the lysosome-associated membrane protein-2 (LAMP-2) was overexpressed and present also in the vacuoles; ultrastructural level: accumulation of amorphous-granular material with free glycogen and diffuse vacuoles containing curvilinear bodies |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
lipofuscinosis, ceroid, neuronal, type 3 (CLN3) |
| Age/Examination |
35y (35 years) |
| Age/Diagnosis |
- |
| Age/Onset |
9y |
| Phenotype/Onset |
peripheral visual field impairment |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Mohamed |
| Date created |
2022-05-19 13:16:10 +02:00 (CEST) |
| Date last edited |
N/A |
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