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Topic: Megalencephaly

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	Megalencephaly
		Megalencephaly, also called macrencephaly, is a condition in which there is an abnormally large, heavy, and usually malfunctioning brain.
		Unilateral megalencephaly or hemimegalencephaly is a rare condition and is characterized by the enlargement of one-half of the brain.
		The prognosis for individuals with megalencephaly largely depends on the underlying cause and the associated neurological disorders.
	healthlink.mcw.edu /article/921440550.html (239 words)

	Megalencephaly - Wikipedia, the free encyclopedia
		Megalencephaly is thought to be related to a disturbance in the regulation of cell reproduction or proliferation.
		In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is formed in the proper place at the appropriate time.
		Symptoms of megalencephaly may include delayed development, convulsive disorders, corticospinal (brain cortex and spinal cord) dysfunction, and seizures.
	en.wikipedia.org /wiki/Megalencephaly (234 words)

	Megalencephaly Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
		Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain.
		Unilateral megalencephaly or hemimegalencephaly is a rare condition that is characterized by the enlargement of one side of the brain.
		Megalencephaly is different from macrocephaly (also called megacephaly or megalocephaly), which describes a big head, and which doesn’t necessarily indicate abnormality.
	www.ninds.nih.gov /health_and_medical/disorders/megalencephaly.htm (492 words)

	Megalencephaly (Site not responding. Last check: 2007-10-31)
		In normaldevelopment, neuron proliferation - the process in which nerve cells divide to form newgenerations of cells - is regulated so that the correct number of cells is formed in the proper place at the appropriatetime.
		The prognosis for individuals with megalencephaly largely depends on the underlying cause and the associated neurologicaldisorders.
		Unilateral megalencephaly or hemimegalencephaly is a rare condition characterized by the enlargement of one-half of thebrain.
	www.therfcc.org /megalencephaly-109669.html (3308 words)

	ASTROCYTES
		Alexanders sygdom (Alexander disease, Alexander syndrome, demyelinogenic leukodystrophy, dysmyelinogenic leukodystrophy, fibrinoid degeneration of astrocytes, fibrinoid leukodystrophy, megalencephaly with hyaline panneuropathy).
		Alexanderin tauti (Alexander disease, Alexander syndrome, demyelinogenic leukodystrophy, dysmyelinogenic leukodystrophy, fibrinoid degeneration of astrocytes, fibrinoid leukodystrophy, megalencephaly with hyaline panneuropathy).
		malattia d'Alexander (Alexander disease, Alexander syndrome, demyelinogenic leukodystrophy, dysmyelinogenic leukodystrophy, fibrinoid degeneration of astrocytes, fibrinoid leukodystrophy, megalencephaly with hyaline panneuropathy).
	www.websters-online-dictionary.org /definition/english/As/Astrocytes.html (571 words)

	Baylor Neurology Case of the Month (Site not responding. Last check: 2007-10-31)
		Megalencephaly denotes a large brain as a result of an expanding parenchyma.
		The differential for megalencephaly includes familial megalencephaly, Tay Sachs disease, glutaric aciduria, galactosemia, neurocutaneous syndromes such as neurofibromatosis and tuberous sclerosis, and leukodystrophies (Canavan's and Alexander's diseases);.
		In summary, leukodystrophy with megalencephaly and hypomyelination may be ascribed to Canavan's, Alexander's, or a milder form of leukodystrophy, but laboratory differences and clinical course distinguish each.
	www.bcm.edu /neurol/challeng/pat12/summary.html (2036 words)

	Congenital Brain Defects \| AHealthyMe.com
		Hydranencephaly is distinct from hydrocephalus, in which CSF accumulates within a normally-formed brain, putting pressure on it and possibly causing skull expansion.
		Megalencephaly is defined as any brain size above the 98th percentile within the population.
		megalencephaly due to neurological or metabolic disease: mental retardation, seizures.
	www.ahealthyme.com /topic/topic100586649 (1410 words)

	Reproductive Biology and Endocrinology \| Full text \| Assessment of fetal intracranial pathologies first demonstrated ...
		In a study of Swedish boys it was found in 0.5% of the population and was associated with lower intelligence [29].
		The most common form of megalencephaly is autosomal dominant and familial, and usually not associated with mental retardation.
		The flow chart for the investigation of fetuses with megalencephaly is presented in Figure 4.
	www.rbej.com /content/1/1/110 (3778 words)

	Dissertations from Karolinska Institutet - Published by Karolinska Institutet Karolinska Institutet - ki.se
		Enlarged brain is termed megencephaly or megalencephaly, and is defined as a brain volume above the 98th percentile.
		The objectives of this thesis were to evaluate inheritance and effects of primary megalencephaly in humans and to identify the genetic cause of megencephaly and associated molecular aberrations in the mceph/mceph mouse.
		In paper I, the association between primary megalencephaly (PMG) at birth and later psycho- sensory conditions as well as the maternal inheritance of PMG at birth were studied, using population based data sets.
	diss.kib.ki.se /2002/91-7349-210-8 (730 words)

	UCSF - Neuroradiology Interesting Case: May, 2002
		Generalized megalencephaly is usually the result of an inborn error of metabolism (Tay-Sachs disease, Canavan's disease) rather than a malformation of cortical development.
		Hemimegalencephaly, also known as unilateral megalencephaly, is a disorder of neuronal and glial proliferation that results in enlargement of all or part of a cerebral hemisphere.
		Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics.
	www.neurorad.ucsf.edu /previouscases/05012002.html (656 words)

	Case Based Pediatrics Chapter
		Additionally, the term hydrocephaly should be distinguished from the terms macrocephaly and megalencephaly.
		Megalencephaly refers to an increase in brain parenchymal volume.
		Megalencephaly refers to increased volume of the brain parenchyma.
	www.hawaii.edu /medicine/pediatrics/pedtext/s18c09.html (3633 words)

	megalencephaly question
		Dear Janet, Megalencephaly results from an excessive amount of normal brain components, from an increase in individual cell types (most commonly the support cells also known as glial cells, or from an increase storage of metabolites.
		In a number of children with Megalencephaly they are of normal intelligence, otherwise of normal development, predominately male and with at least 39% of a family history of enlarged head, most commonly in the child's father family (in one study).
		In such families, transmission of the condition is most likely to be as an autosomal dominant trait (that is a child of a father with an enlarged head has a 50% chance of also having an enlarged head).
	www.medhelp.org /forums/neuro/archive/1964.html (375 words)

	Cephalic Disorders - Types - neurologychannel
		A rare variation on this condition, unilateral megalencephaly (also called hemimegalencephaly), involves enlargement of half of the brain.
		Megalencephaly may be caused by a disturbance in the process that controls the way nerve cells divide to form new cells (called nerve cell proliferation).
		In microcephaly, the circumference of the head is markedly smaller than normal for the infant's age and sex.
	www.neurologychannel.com /cephalicdisorders/megalencephaly.shtml (450 words)

	Signs of Megalencephaly - WrongDiagnosis.com
		The phrase "signs of Megalencephaly" should, strictly speaking, refer only to those signs and symptoms of Megalencephaly that are not readily apparent to the patient.
		The word "symptoms of Megalencephaly" is the more general meaning; see symptoms of Megalencephaly.
		This medical information about signs and symptoms for Megalencephaly has been gathered from various sources, may not be fully accurate, and may not be the full list of Megalencephaly signs or Megalencephaly symptoms.
	www.wrongdiagnosis.com /m/megalencephaly/signs.htm (315 words)

	Basic Summary for Megalencephaly - CureResearch.com
		Profile for Megalencephaly: Head enlargement may be evident at birth or the head may become abnormally large in the early years of life.
		Prognosis of Megalencephaly: The prognosis for individuals with megalencephaly largely depends on the underlying cause and the associated neurological disorders.
		Causes of Megalencephaly: Megalencephaly is thought to be related to a disturbance in the regulation of cell reproduction or proliferation.
	www.cureresearch.com /m/megalencephaly/basics.htm (274 words)

	Alexander disease
		The infantile form (birth to 2 years), the most common, is characterized by its early onset and severe evolution.
		Its symptomatology associates progressive megalencephaly (sometimes hydrocephaly), retarded psychomotor development or mental deterioration, pyramidal signs, ataxia and convulsive seizures.
		Computed tomography scan and magnetic resonance imaging suggest the diagnosis by revealing white matter anomalies, predominantly in the frontal lobes.
	www.orpha.net /static/GB/alexander_disease.html (201 words)

	Leukodystrophies: Indian Scenario Singhal BS - Indian J Pediatr
		Of late, the mother's lineage is often forgotten, resulting in marriages in a closed group with greater chances of autosomal recessive disorders in their offspring.
		MLC will need to be distinguished from other conditions with megalencephaly, cognitive decline and motor disability such as infantile form of Alexander's disease, Canavan-van Bogaert-Bertrand disease and glutaric aciduria type I. These can be distinguished by the differences in the clinical picture, changes on MRI imaging and biochemical changes.
		Topcu M, Saatci I, Topcuoglu MA, Kose G, Kunak B. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.
	www.ijppediatricsindia.org /article.asp?issn=0019-5456;year=2005;volume=72;issue=4;spage=315;epage=318;aulast=Singhal (2220 words)

	The Official Parent's Sourcebook On Megalencephaly: A Revised And Updated Directory For The Internet Age: Current ... (Site not responding. Last check: 2007-10-31)
		It is here that we direct you to the latest scientific and applied research on megalencephaly.
		While this sourcebook covers megalencephaly, your doctor, research publications, and specialists may refer to your condition using a variety of terms.
		Therefore, you should understand that megalencephaly is often considered a synonym or a condition closely related to the following: 742.4 Other specified anomalies of brain.
	www.seo-toys.com /books-plain/0597841144.html (1055 words)

	Re: megalencephaly & endocrine disorders
		In Reply to: megalencephaly & endocrine disorders posted by Jennifer on January 24, 1998 at 21:33:14:
		I am not sure what you exactly mean by "non-familiar megalencephaly" however most MRI scans done on the brain should reveal problems if they are there.
		Now in the case of pituitary disorders that may not be the case as some pituitary tumors may not be visible on standard MRI testing.
	www.medhelp.org /forums/neuro/archive/3078.html (325 words)

	eMedicine - Achondroplasia : Article Excerpt by: Joo-Hee Grace Park, DO (Site not responding. Last check: 2007-10-31)
		The mutation rate is estimated to be 0.000014 per gamete per generation.
		Cardinal features include short stature, rhizomelic shortening of the arms and legs, a disproportionately long trunk, trident hands, midfacial hypoplasia, prominent forehead (frontal bossing), thoracolumbar gibbus, true megalencephaly, and caudal narrowing of the interpedicular spaces.
		Pathophysiology: Achondroplasia is caused by mutations in the gene for fibroblast growth factor receptor-3 (FGFR3).
	www.emedicine.com /ped/byname/achondroplasia.htm (587 words)

	[No title]
		Alexander disease is the first disease that is known to be associated with GFAP mutations [Brenner M, et al., 2001].
		Clinical features: Canavan disease, Alexander disease and Aicardi-Goutières syndrome are the three leukodystrophy that typically present with megalencephaly.
		Infantile form: present between aged 6 months to 2 years with megalencephaly and/or hydrocephalus, seizures, developmental delay, and spastic paresis.
	moon.ouhsc.edu /kfung/JTY1/NeuroHelp/ZNE2IE01.htm (441 words)

	Symptoms of Megalencephaly - CureResearch.com
		This symptom information has been gathered from various sources, may not be fully accurate, and may not be the full list of symptoms of Megalencephaly.
		Furthermore, symptoms of Megalencephaly may vary on an individual basis for each patient.
		Symptoms of Megalencephaly: Symptoms of megalencephaly may include delayed development, convulsive disorders, corticospinal (brain cortex and spinal cord) dysfunction, and seizures.
	www.cureresearch.com /m/megalencephaly/symptoms.htm (345 words)

	TheFetus.net - Thanatophoric dysplasia, type I -Luc Gourand, MD, Bettina Bessières, MD
		Skeletal anomalies, consisting of short limbs, a small thorax, short ribs, thick cortical vertebral body substance and sternum substance, and hypoplastic lungs, were compatible with typical phenotypic features of TD.
		The brain weighed 370 g, showing a cloverleaf megalencephaly.
		A computerized 3-D reconstruction technique visualized clearly abnormal deep sulci arranged perpendicular to the neuraxis on the inferior surface of the temporal lobe, and peculiar configurational changes of the lateral ventricle.
	www.thefetus.net /page.php?id=376 (302 words)

	NINDS Megalencephaly Information Page: NINDS - WrongDiagnosis.com - WrongDiagnosis.com
		NINDS Megalencephaly Information Page: NINDS - WrongDiagnosis.com - WrongDiagnosis.com
		The NINDS supports and conducts neurogenetic research which focuses on identifying and studying the genes involved in normal brain development.
		DeMyer, W. Megalencephaly: Types, Clinical Syndromes, and Management.
	www.wrongdiagnosis.com /artic/ninds_megalencephaly_information_page_ninds_printer.htm (374 words)

	Causes of Megalencephaly - WrongDiagnosis.com
		Introduction: Megalencephaly: Megalencephaly is thought to be related to a disturbance in the regulation of cell reproduction or proliferation.
		As with all medical conditions, there may be many causal factors.
		Further relevant information on causes of Megalencephaly may be found in the risk factors for Megalencephaly, medications that may cause Megalencephaly, contagiousness for Megalencephaly, genetics of Megalencephaly, and underlying causes of Megalencephaly.
	www.wrongdiagnosis.com /m/megalencephaly/causes.htm (204 words)

	Alexander disease - Genetics Home Reference
		Signs and symptoms of the infantile form typically include an enlarged brain and head (megalencephaly), seizures, stiffness in the arms and/or legs (spasticity), mental retardation, and delayed physical development.
		Less frequently, onset occurs later in childhood (the juvenile form) or adulthood.
		You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
	ghr.nlm.nih.gov /condition=alexanderdisease (741 words)

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