合計: 3 |
|
PMID (PMCID) | ||
---|---|---|
27543776 |
MALE | Adult |
Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter. | ||
Rusiecki D, Lach B. Folia Neuropathol. 2016;54(2):190-6. |
||
Many cases are associated with a mutation in the phosphatase and tensin homolog or PTEN gene which is also involved in numerous otherwise unrelated central nervous system abnormalities, namely Cowden syndrome [1,6,11], autism spectrum disorder [18], cerebral cortical dysplasia [11,30] and Bannayan-Riley-Ruvalcaba syndrome [30]. | ||
23382303 |
MALE | Infant |
Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy. | ||
Granados A, Eng C, Diaz A. J Pediatr Endocrinol Metab. 2013;26(1-2):137-41. |
||
Mutations in PTEN have been identified in different clinical disorders such as Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Proteus syndrome, Proteus-like syndrome, and autism spectrum disorders with macrocephaly (Hobert). | ||
15805158 |
MIXED_SAMPLE | Child |
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. | ||
Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C. J Med Genet. 2005;42(4):318-21. |
||
Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may have neurobehavioural features resembling autism as well as overgrowth and macrocephaly. |