Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.
ABSTRACT The PTEN hamartoma tumor syndrome, manifestations of which include Cowden disease and Bannayan-Riley-Ruvalcaba syndrome, is caused by various mutations of the PTEN gene located at 10q23. Its major criteria are macrocephaly and a propensity to develop breast and thyroid cancers as well as endometrial carcinoma. Minor diagnostic criteria include hamartomatous intestinal polyps, lipomas, fibrocystic disease of the breasts, and fibromas. Mutations of PTEN can also be found in patients with Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum). 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. The patient presented in the pediatric emergency department with severe spastic paraparesis. A magnetic resonance imaging study of the spine showed vertebral hemangiomas at multiple levels, but stenosis and compression were maximal at level T5-6. An emergency T5-6 laminectomy was performed. The decompression was extremely hemorrhagic because the rapid onset of paraparesis necessitated prompt treatment, and there was no time to perform preoperative embolization. The patient's postoperative course was uneventful with gradual recovery. This represents the first report of an association of a PTEN mutation and multiple vertebral angiomas. The authors did not treat the remaining angiomas because surgical treatment was contraindicated without previous embolization, which in itself would present considerable risk in this patient with congenital cyanotic heart disease.
- Anesthesia and analgesia 07/2008; 106(6):1928-9. DOI:10.1213/ane.0b013e31816f277d · 3.42 Impact Factor
- [Show abstract] [Hide abstract]
ABSTRACT: To report the first case of choroidal schwannoma in a patient affected by PTEN hamartoma tumor syndrome (PHTS) and investigate the molecular involvement of the phosphatase and tensin homolog (PTEN) and neurofibromin 2 (NF2) genes in this rare intraocular tumor. Observational case report. A 10-year-old girl diagnosed with PHTS. The enucleated specimen underwent histologic, immunohistochemical, and transmission electronic microscopy. The expression of PTEN and NF2 and their protein products were evaluated by reverse transcription-polymerase chain reaction and immunohistochemistry. Somatic mutations of PTEN and NF2, as well as allelic loss, were investigated by direct sequencing of DNA extracted from the tumor. PTEN epigenetic silencing was investigated by pyrosequencing. Histopathologic and molecular characterization of a choroidal pigmented schwannoma. Histopathologic, immunohistochemical, and electron microscopic analysis demonstrated features consistent with a pigmented cellular schwannoma of the choroid. We found no loss of heterozygosity at the genomic level for the PTEN germline mutation and no promoter hypermethylation or other somatic intragenic mutations. However, we observed an approximate 40% reduction of PTEN expression at both the mRNA and the protein level, indicating that the tumor was nonetheless functionally deficient for PTEN. Although DNA sequencing of NF2 failed to identify any pathologic variants, its expression was abolished within the tumor. We report the first description of a pigmented choroidal schwannoma in the context of a PHTS. This rare tumor showed a unique combination of reduction of PTEN and absence of NF2 expression.Ophthalmology 01/2012; 119(4):857-64. DOI:10.1016/j.ophtha.2011.09.057 · 6.17 Impact Factor
- [Show abstract] [Hide abstract]
ABSTRACT: A male, born at term without complications, presented with infantile spasms at 6 weeks of age. Remission occurred with sodium valproate and nitrazepam. At 2 years, partial seizures emerged that responded to carbamazepine. Thereafter, seizures were infrequent. Migraine was diagnosed at 8 years. Neurodevelopment was delayed and a diagnosis of autistic spectrum disorder with moderate learning disability and motor dyspraxia was made. Head circumference at birth was 38.2 cm (98th centile) and at 8 years was 61 cm, 4 SD above the mean. There was dolichocephaly, three café au lait patches, and a few irregular naevi on the limbs and scalp. There was a lipoma in the right flank. The father had extreme macrocephaly (67 cm, >99th centile) and excessive skin tags in the axillae and neck. The proband and father did not have pigmented macules of the penis and both had normal tongue examination. The father had a history of sarcoidosis but was employed full-time and did not have any neurological findings.Clinical dysmorphology 04/2012; 21(2):91-2. DOI:10.1097/MCD.0b013e328351639d · 0.42 Impact Factor