Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

Ruggieri, Martino; Mastrangelo, Mario; Spalice, Alberto; Mariani, Rosanna; Torrente, Isabella; Polizzi, Agata; Bottillo, Irene; Biase, Claudio Di; Iannetti, Paola

doi:10.1002/ajmg.a.33318

Cited by 17 publications

(17 citation statements)

References 22 publications

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“…Differently from other neurocutaneous disorders, [18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35] MCAP is a rare syndrome, with no more than 200 patients so far reported. [1][2][3][4][5][6][7][8][9][36][37][38][39][40][41] There is a slight preponderance of males but this has not been proven to be statistically significant.…”

Section: Incidence and Prevalencementioning

confidence: 99%

Megalencephaly Capillary Malformation Syndrome

Praticò

Polizzi²,

Salafia³

et al. 2018

J Pediatr Neurol

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Megalencephaly capillary malformation polymicrogyria (MCAP) syndrome is characterized by the sporadic occurrence of congenital and progressive megalencephaly, brain malformations including polymicrogyria, pre- and postnatal overgrowth with body asymmetry, cutaneous vascular malformations (including capillary malformation and cutis marmorata), digital anomalies connective tissue dysplasia (including skin and joint laxity), and developmental delay. In the past 10 years, the specific cause of the disease has been found in gain-of-function mutations of PIK3CA gene, mostly somatic/postzygotic but in rare cases also de novo germline. Such gene encodes for PI3K, a critical member of the PI3K-AKT-mTOR pathway: genetic changes lead to an over-activation of this signaling system, with increased vascular, limb, and brain cell development, progression, and survival. Interestingly, mutations in the same gene can cause other clinically heterogeneous syndromes, including CLOVE syndrome, macrodactyly, focal adipose overgrowth, epidermal nevi, facial infiltrating lipomatosis: all these syndromes (even if heterogeneous) are now considered a unique spectrum, known as PIK3CA-related overgrowth syndrome. On the contrary, a disease strictly similar to MCAP, characterized by megalencephaly, polymicrogyria, polydactyly, and hydrocephalus has been found to be caused by mutations in two other PI3K-AKT-mTOR-releted genes, AKT3 and PIK3R2, and for this reason is not included in the upper mentioned group of syndromes. With the exception of neurosurgery strategies for hydrocephalus and posterior fossa overcrowding, therapeutic options are nowadays limited, even if gene-targeted treatment protocols have been proposed and protocols with such agents (i.e., Arq092) are currently ongoing in small groups of patients with promising results.

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Section: Incidence and Prevalencementioning

confidence: 99%

Megalencephaly Capillary Malformation Syndrome

Praticò

Polizzi²,

Salafia³

et al. 2018

J Pediatr Neurol

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“…26 Spinal tumors have been never reported in hypomelanosis of Ito; however, this last disease may share with ECCL a high figure of epileptic complications. [117][118][119][120] Finally, spinal lipomatosis may be also observed in severe obesity, chronic corticosteroid medication, Bannayan-Riley-Ruvalcaba syndrome, and Cushing syndrome. 121,122…”

Section: Differential Diagnosismentioning

confidence: 99%

Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome)

et al. 2018

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Encephalocraniocutaneous lipomatosis is a sporadic, congenital neurocutaneous disorder characterized by the involvement of skin, central nervous system, and eye. A non-hereditary, autosomal mutation that may survive only in a mosaic state may be the cause of the clinical picture of the syndrome. Less than 80 patients have been so far reported and their clinical manifestations consisted of unilateral lipomatous hamartoma of the scalp or eyelid, epibulbar choristomas, and ipsilateral brain malformations. There is no clinical correlation between the severity of brain malformations and the clinical manifestations, and many patients with extremely extensive cerebral abnormalities are only minimal symptomatic. Seizures and mental retardation may also occur. The natural history is often favorable, without drug-resistant seizures and normal intelligence in most of the cases.

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“…1). 18 Some lesions follow the lines of Blaschko, similarly to what happens in the Hypomelanosis of Ito, [38][39][40][41][42][43][44][45] or have a sharp demarcation in the midline; an extensive amount of body surface area may be involved. 4 The affected area can be as small as a quadrant of the body or more widespread to involve an entire hemibody.…”

Section: Clinical Manifestations Skin Abnormalitiesmentioning

confidence: 99%

Speckled Lentiginous Nevus Syndrome

et al. 2018

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Speckled lentiginous nevus syndrome is a rare neurocutaneous phenotype, characterized by a specked lentiginous nevus, appearing as a light brown macule superimposed by multiple melanocytic nevi in the form of macules or papules with uneven distribution, associated with ipsilateral neurological and musculoskeletal abnormalities (i.e., dysesthesia, hyperhidrosis, and musculoskeletal abnormalities) occur. It represents a mosaic phenotype disorder resulting from postzygotic loss of heterozygosity, due to a localized defect in neural crest melanoblasts that originate certain areas of the skin and some ipsilateral neurological and musculoskeletal cells. Environmental and genetic factors may also play a role, but it has not been clarified how these factors behave in this syndrome.

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Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

Cited by 17 publications

References 22 publications

Megalencephaly Capillary Malformation Syndrome

Megalencephaly Capillary Malformation Syndrome

Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome)

Speckled Lentiginous Nevus Syndrome

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