| Autor: |
Felczak, Paulina, Kuźniar-Pałka, Aleksandra, Mierzewska, Hanna, Tarka, Sylwia, Ługowska, Agnieszka, Stawicka, Elżbieta |
| Zdroj: |
Folia Neuropathologica; 2023, Vol. 61 Issue 4, p456-456, 1/2p |
| Abstrakt: |
Neuronal ceroid lipofuscinoses type 2 (CLN2 disease) is an autosomal recessive neurodegenerative disorder generally with onset at 2-4 years of age, characterized by seizures, loss of vision, progressive motor and mental decline, and premature death. CLN2 disease is caused by loss-of-function mutations in the tripep-tidyl peptidase 1 (TPP1) gene leading to deficiency in TPP1 enzyme activity. Approximately 60% of patients have one of two pathogenic variants (c.509-1G > C or c.622C > T). CLN2 disease belongs to the group of the neuronal ceroid lipofuscinoses (NCLs) characterized by massive accumulation of autofluorescent lipopigments in storage bodies in neurons, and in extraneuronal cells. Ultrastructurally, lysosomal inclusions are seen as granular osmiophilic deposits (GRODs), curvilinear (CVPs), fingerprint (FPPs), or rectilinear profiles (RLPs). We present the case of an almost four-year-old girl with clinical suspicion of NCL. The development of the patient was disharmonious. EEG revealed focal temporal sharp and slow waves bilaterally with tendency to generalization. The MRI showed no abnormalities. Quick dry blood spot detection CLN2 test revealed decreased TPP1 activity of 0.9 umol/l/h (cut-off value > 4.5). The whole exome sequencing isolated from the blood revealed a mutation c.622C > T/c.509-1G > C in the TPP1 gene mostly detected in the CLN2 disease. Additionally a biopsy of the rectal mucosa was performed, where the muscularis mucosa, connective tissue, nerve fibers and small blood vessels were examined. Numerous deposits of CVPs were found in the analyzed cells and few deposits of mixed CVPs in association with FPPs. Rectal biopsy is a useful method of obtaining cells with high morphological and functional diversity, and can be used to detect pathological ultrastructural lipopigment deposits occurring in CLN2 disease. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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