Laura Flores-Sarnat's Books

Pediatric Neurology Part I

Chapter 42. Neurocutaneous melanocytosis

By: Laura Flores-Sarnat

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Pediatric Neurology Part I

Chapter 42. Neurocutaneous melanocytosis

By: Laura Flores-Sarnat

Neurocutaneous melanosis or neurocutaneous melanocytosis is a rare sporadic congenital disorder characterized by the presence of giant and/or multiple satellite congenital melanocytic nevi in the skin and benign melanocytic pigmentation of the leptomeninges. These two defining features were recognized more than a century ago. A third characteristic feature is proliferative nodules arising from giant nevi. The etiology is unknown, but neurocutaneous melanosis is considered a developmental disorder of melanocyte precursors from neural crest. The distinctive unique distribution of the congenital giant nevi that gives a “garment” appearance is also an expression of the neural crest. The neurological manifestations often appear in infancy.The special association of neurocutaneous melanosis with Dandy-Walker malformation complex may be explained by a common pathogenesis. Mortality in infancy and childhood is high.

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Elsevier Inc. Chapters

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ISBN 10

0128077476

ISBN 13

9780128077474

Pediatric Neurology Part I

Chapter 44. Neuropathology of pediatric epilepsy

By: Harvey B. Sarnat,Laura Flores-Sarnat

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Pediatric Neurology Part I

Chapter 44. Neuropathology of pediatric epilepsy

By: Harvey B. Sarnat,Laura Flores-Sarnat

The preoperative study of patients who are candidates for epilepsy surgery often classifies their epileptic foci as “lesional” or “non-lesional” based upon evidence from neuroimaging. Many lesions not detected by MRI are found by microscopic examination of the resected tissue. Advances have been made in neuropathological techniques to study resected brain tissue and to specify the types of focal cortical dysgeneses and other lesions by extending microscopic findings by applying immunocytochemical markers that identify specific types and distributions of neurons and glial cells that denote tissue architecture. There may be etiological differences between focal and extensive cortical dysplasias involving many gyri or entire lobes of cerebral cortex. Of additional importance in pediatric brain resections is that these modern techniques also denote cellular maturation and can identify abnormal cells with mixed lineage. α-B-crystallin can serve as a metabolic tissue marker of epileptic activity, regardless of the presence or absence of a “structural” lesion by MRI or by conventional histopathology. Satellitosis may contribute to epileptogenic neurons and later to death of those neurons. The classification of malformations of the brain is a process requiring continuous updates that include genetics, neuroimaging, and neuropathology as new data emerge, but should not be exclusive to one region of the brain, such as cerebral cortex or cerebellum. Standardization in neuropathological terminology enhances scientific communication. The ILAE recently published a useful consensus classification of focal cortical dysplasias that is flexible to enable future revisions and changes as new data become available.

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ISBN 10

0128077492

ISBN 13

9780128077498

Pediatric Neurology Part I

Chapter 41. Epidermal nevus syndrome

By: Flores-Sarnat Laura

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Pediatric Neurology Part I

Chapter 41. Epidermal nevus syndrome

By: Flores-Sarnat Laura

Epidermal nevus syndrome (ENS) is an inclusive term for a heterogeneous group of congenital disorders characterized by the presence of epidermal nevi associated with systemic involvement. These disorders, as are all primary neurocutaneous syndromes, are neurocristopathies. The epidermal nevi that follow the lines of Blaschko and most systemic anomalies in skeletal, ocular, cardiovascular, endocrine, and orodental tissues, as well as lipomas, are due to defective neural crest. The most important and frequent anomaly in the brain in all forms of epidermal nevus syndromes (ENSs) is hemimegalencephaly (HME). This malformation often is not recognized, despite being the principal cause of neurological manifestations in ENSs. They consist mainly of epilepsy and developmental delay or intellectual disability. The onset of epilepsy in ENS usually is in early infancy, often as infantile spasms. Several syndromic forms have been delineated. I propose the term “Heide's syndrome” for those distinctive cases with the typical triad of hemifacial epidermal nevus, ipsilateral facial lipoma, and hemimegalencephaly. Most ENSs are sporadic. The mechanism is thought to be genetic mosaicism with a lethal autosomal dominant gene. Specific genetic mutations (PTEN, FGFR3, PIK3CA, and AKT1) have been documented in some patients. The large number of contributors for over more than a century and a half to the description of these disorders precludes the use of new author eponyms.

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0128077468

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9780128077467

Book's by Laura Flores-Sarnat

Pediatric Neurology Part I

Pediatric Neurology Part I

Pediatric Neurology Part I

Pediatric Neurology Part I

Pediatric Neurology Part I

Pediatric Neurology Part I

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