SC-specific phosphatase and tensin homolog (Pten) inactivation and epidermal growth factor receptor (EGFR) overexpression (Dhh-Cre; Cnp-EGFR; Pten<sup>flox/flox</sup> or DET) mice were used and NMJ malformation was observed in these mice.
<b>Patients and Methods</b> A retrospective review of 41 patients treated with sirolimus between January 2011 and December 2015 was performed: 15% (<i>n</i> = 6) had vascular tumors (4 kaposiform hemangioendotheliomas, 1 PTEN) and 85% (<i>n</i> = 35) had malformations (13 generalized lymphatic anomalies/Gorham-Stout diseases [GSD], 1 kaposiform lymphangiomatosis [KLA], 11 large lymphatic malformations (LMs) in critical areas, 2 lymphedemas, 4 venous malformations, and 4 aggressive arteriovenous malformations [AVM]).
The authors report the case of a 17-year-old girl who had a severe cyanotic cardiac malformation for which surgery was not advised and a heterozygous missense mutation (c.406T>C) in exon 5 of PTEN resulting in the substitution of cysteine for arginine (p.Cysl36Arg) in the protein, which was also found in her mother and sister.