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PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. Keppler-Noreuil KM, et al. Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31. Am J Med Genet A. 2015. PMID: 25557259 Free PMC article.
Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal …
Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO) …
Macrocephaly in the Primary Care Provider's Office.
Bryant JP, Hernandez NE, Niazi TN. Bryant JP, et al. Pediatr Clin North Am. 2021 Aug;68(4):759-773. doi: 10.1016/j.pcl.2021.04.004. Pediatr Clin North Am. 2021. PMID: 34247707 Review.
Macrocephaly is commonly encountered in the primary care provider's office. It is defined as an occipitofrontal circumference that is greater than 2 standard deviations above the mean for the child's given age. ...
Macrocephaly is commonly encountered in the primary care provider's office. It is defined as an occipitofrontal circumference that is …
Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab.
Almgren M, Schalling M, Lavebratt C. Almgren M, et al. Eur J Paediatr Neurol. 2008 Nov;12(6):438-45. doi: 10.1016/j.ejpn.2007.11.008. Epub 2008 Jan 31. Eur J Paediatr Neurol. 2008. PMID: 18242108 Review.
Megalencephaly means an increased size or weight of a generally well-formed brain. ...Idiopathic megalencephalies with neurological deficits as well as unilateral megalencephaly are hypothesized to be caused by disturbances of proliferation, survival or migration of …
Megalencephaly means an increased size or weight of a generally well-formed brain. ...Idiopathic megalencephalies with neurological d …
Megalencephaly: types, clinical syndromes, and management.
DeMyer W. DeMyer W. Pediatr Neurol. 1986 Nov-Dec;2(6):321-8. doi: 10.1016/0887-8994(86)90072-x. Pediatr Neurol. 1986. PMID: 3334205 Review.
The differential diagnosis of megalencephaly poses a challenge to the clinician. The two major categories, metabolic and anatomic, include a number of conditions, many of them rare. This article provides a systematic approach to the patient with megalencephaly....
The differential diagnosis of megalencephaly poses a challenge to the clinician. The two major categories, metabolic and anatomic, in …
Prenatal ultrasonographic diagnosis of fetal intracranial tumors: a review.
Sherer DM, Onyeije CI. Sherer DM, et al. Am J Perinatol. 1998 May;15(5):319-28. doi: 10.1055/s-2007-993951. Am J Perinatol. 1998. PMID: 9643639 Review.
Non-neoplastic fetal intracranial tumors are even less frequent and include: unilateral megalencephaly, heterotopia, and lipoma of the corpus callosum. Cardinal ultrasonographic findings associated with fetal intracranial tumors include: echogenic and semicystic space occu …
Non-neoplastic fetal intracranial tumors are even less frequent and include: unilateral megalencephaly, heterotopia, and lipoma of th …
Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management.
LoPresti MA, Du RY, Lee JE, Iacobas I, Bergstrom K, McClugage SG, Lam SK. LoPresti MA, et al. J Neurosurg Pediatr. 2022 Dec 23;31(3):212-220. doi: 10.3171/2022.11.PEDS22392. Print 2023 Mar 1. J Neurosurg Pediatr. 2022. PMID: 36681951
Their identification allows for advanced screening and targeted therapeutic approaches. The authors aimed to describe the role of a collaborative approach to care and genetic testing in pediatric patients with neurovascular anomalies, with the objectives of identify …
Their identification allows for advanced screening and targeted therapeutic approaches. The authors aimed to describe the role of a c …
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
Park HJ, Shin CH, Yoo WJ, Cho TJ, Kim MJ, Seong MW, Park SS, Lee JH, Sim NS, Ko JM. Park HJ, et al. Orphanet J Rare Dis. 2020 Aug 10;15(1):205. doi: 10.1186/s13023-020-01480-y. Orphanet J Rare Dis. 2020. PMID: 32778138 Free PMC article.
BACKGROUND: Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS). ...Cutaneous vascular malformation was found in 10/12 patients (83%). Megalencephaly or hemimegale …
BACKGROUND: Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of conditions called the PIK3CA-r …
11 results