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• W2040301614 abstract "Background We present clinical and molecular findings of a patient with ceroid-lipofuscinosis CLN7, with a compound heterozygous mutation of the MFSD8 gene, with Rett syndrome clinical signs onset and a later development of full picture of vLINCL. Case presentation A 7 years-old female patient with normal development until the age 12 months, developed Rett like clinical picture (psychomotor regression, microcephaly, stereotypic hands movements in the midline, hyperventilation episodes) present at the onset of her condition (age 18 months), features still present at the initial evaluation in our clinic at age 5 years. Results MECP2 (methyl CpG binding protein 2) gene mutation was negative. At age 6 years she was readmitted for severe ataxia and blindness, seizures, and severe developmental regression leading to NCL (neuronal ceroid lipofuscinosis) suspicion. EEG showed slow background with IRDA (intermittent rhythmic delta activity). A conjunctive biopsy showed abnormal curvilinear and fingerprint lysosomal deposits, and genetic analysis revealed two heterozygous mutations of MFSD8 gene (c.881C > A p.Thr294Lys and c.754 + 2T > A) each inherited from carrier parents and a heterozygous variant (c.470A>C p.Asp157Ala) of CLN5 gene. Conclusion NCL should be suspected and MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 mutation. Such cases should be carefully and frequently re-evaluated in order to avoid delayed diagnosis and offer proper genetic advice to the family. In our knowledge, this might be the first case of CLN7 disease with Rett like onset described in the literature, which developed typical vLINCL clinical phenotype after age 5.5 years. A short review of the literature showing NCL onset modalities is presented." @default.
• W2040301614 created "2016-06-24" @default.
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• W2040301614 date "2015-01-01" @default.
• W2040301614 modified "2023-09-30" @default.
• W2040301614 title "Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs" @default.
• W2040301614 cites W1521912365 @default.
• W2040301614 cites W1555972529 @default.
• W2040301614 cites W1563940013 @default.
• W2040301614 cites W1595648005 @default.
• W2040301614 cites W1889762023 @default.
• W2040301614 cites W1964864637 @default.
• W2040301614 cites W1968547461 @default.
• W2040301614 cites W1972703191 @default.
• W2040301614 cites W1973183828 @default.
• W2040301614 cites W1975606544 @default.
• W2040301614 cites W1982366478 @default.
• W2040301614 cites W1983641273 @default.
• W2040301614 cites W1986176147 @default.
• W2040301614 cites W1989307108 @default.
• W2040301614 cites W1993128366 @default.
• W2040301614 cites W1994263020 @default.
• W2040301614 cites W1995724931 @default.
• W2040301614 cites W1995936608 @default.
• W2040301614 cites W1998735382 @default.
• W2040301614 cites W1999643045 @default.
• W2040301614 cites W1999721389 @default.
• W2040301614 cites W2001289527 @default.
• W2040301614 cites W2002489309 @default.
• W2040301614 cites W2009421637 @default.
• W2040301614 cites W2009725600 @default.
• W2040301614 cites W2011933633 @default.
• W2040301614 cites W2015848870 @default.
• W2040301614 cites W2019091774 @default.
• W2040301614 cites W2026713745 @default.
• W2040301614 cites W2034654615 @default.
• W2040301614 cites W2036772112 @default.
• W2040301614 cites W2039756269 @default.
• W2040301614 cites W2043802584 @default.
• W2040301614 cites W2052060433 @default.
• W2040301614 cites W2057290352 @default.
• W2040301614 cites W2058885609 @default.
• W2040301614 cites W2059092093 @default.
• W2040301614 cites W2062333228 @default.
• W2040301614 cites W2063075178 @default.
• W2040301614 cites W2064114351 @default.
• W2040301614 cites W2064262373 @default.
• W2040301614 cites W2065518232 @default.
• W2040301614 cites W2071638862 @default.
• W2040301614 cites W2073796655 @default.
• W2040301614 cites W2073924233 @default.
• W2040301614 cites W2074228637 @default.
• W2040301614 cites W2076357933 @default.
• W2040301614 cites W2077099945 @default.
• W2040301614 cites W2077753472 @default.
• W2040301614 cites W2077809468 @default.
• W2040301614 cites W2078557934 @default.
• W2040301614 cites W2082187487 @default.
• W2040301614 cites W2082306524 @default.
• W2040301614 cites W2090071972 @default.
• W2040301614 cites W2092891303 @default.
• W2040301614 cites W2098111392 @default.
• W2040301614 cites W2108601769 @default.
• W2040301614 cites W2108686581 @default.
• W2040301614 cites W2110574733 @default.
• W2040301614 cites W2111964251 @default.
• W2040301614 cites W2113195124 @default.
• W2040301614 cites W2116371437 @default.
• W2040301614 cites W2118022730 @default.
• W2040301614 cites W2125030425 @default.
• W2040301614 cites W2128886688 @default.
• W2040301614 cites W2132752562 @default.
• W2040301614 cites W2134178648 @default.
• W2040301614 cites W2137604984 @default.
• W2040301614 cites W2139680553 @default.
• W2040301614 cites W2141313109 @default.
• W2040301614 cites W2143238378 @default.
• W2040301614 cites W2145396101 @default.
• W2040301614 cites W2145405617 @default.
• W2040301614 cites W2147439920 @default.
• W2040301614 cites W2149253732 @default.
• W2040301614 cites W2153764927 @default.
• W2040301614 cites W2159900821 @default.
• W2040301614 cites W2164373312 @default.
• W2040301614 cites W2328476098 @default.
• W2040301614 cites W2616833305 @default.
• W2040301614 doi "https://doi.org/10.1016/j.ejpn.2014.07.008" @default.
• W2040301614 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25439737" @default.

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