Is leukodystrophy really a feature of PIGT-CDG?
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2020
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Abstract
We have read with great interest the description of neuropathological findings in a deceased 11-month-old child with PIGT-CDG (compound heterozygote, c.1472T>A; c.1484+2T>A), described by Dr KB Larsen et al. (1). This ultra-rare disease, a defect in glycosylphosphatidylinositol (GPI) biosynthesis, is also known under the acronym MCAHS3, multiple congenital anomalies-hypotonia-seizures syndrome-3 (OMIM 615398). Accordingly, hypotonia, markedly delayed development and epilepsy are among the core manifestations.
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mierzewska2020isneuropathology
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| Authors | Mierzewska, Hanna;Jezela-Stanek, Aleksandra; |
| Journal | neuropathology and applied neurobiology |
| Year | 2020 |
| DOI |
10.1111/nan.12609
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