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DS,dermatan sulfate HS, heparan sulfate KS, keratan sulfate C-4-S,chondroitin-4-sulfate C-6-S,chondroitin-6-sulfate. DS,dermatan sulfate HS, heparan sulfate KS, keratan sulfate C-4-S,chondroitin-4-sulfate C-6-S,chondroitin-6-sulfate. cephalus caused by dysfunction of arachnoid villi, and some patients have overt signs of increased intracranial pressure. Signs of spinal cord compression may occur but are infrequent. Not all mentioned signs and symptoms are obligatory and there is considerable...

Mitochondria and Mitochondrial Disorders

Fatty Acid Oxidation Disorder

23.1 Mitochondrial Structure and Function Mitochondria are membranous organelles that provide the energy necessary for the different cell functions. They are called mitochondria because of their threadlike appearance Greek mitos thread on light microscopy. On electron microscopy they appear as vesicles bounded by two membranes. The inner membrane is thrown into folds that project like shelves into the mitochondria. These projections are called cristae. Mitochondria consist of four compartments...

And Laboratory Investigations

Peroxisome biogenesis disorders are genetically heterogeneous diseases with an autosomal recessive mode of inheritance. They include Zellweger syndrome ZS, also called cerebrohepatorenal syndrome , neonatal adrenoleuko dystrophy NALD , and infantile Refsum disease IRD . The clinical pictures of these disorders show similarities, but an important difference is a difference in severity, the clinical course being most severe in ZS and mildest in IRD. Exceptional patients present with a still...

Myelination

Myelin The Brain

It was Flechsig 1920 who originally put forward the view that the degree of myelination of the CNS might be correlated with functional capacity. In his theory he stated that myelination started in projection pathways before association pathways, in peripheral nerves before central pathways, and in sensory areas before motor ones. Although he modified his theory slightly in response to his critics, he continued to maintain that fibers always myelinated in the same order first the afferent...

Severe Encephalopathy

Mri Encephalopathy

A 1-year-old girl with complex I deficiency related to a mutant NDUFV1 subunit of mitochondrial complex I Schuelke et al. 1999 . Clinically she has a severe encephalopathy and macrocephaly. The MRI reveals a diffuse leuko-encephalopathy with macrocystic degeneration. Courtesy of Dr. J.A.M. Smeitink, Department of Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Hospital Nijmegen, Nijmegen,The Netherlands Fig. 28.4. A 1-year-old girl with complex I...

Mitochondrial Encephalopathy with Lactic Acidosis and Strokelike Episodes

Melas Mri Brain Adc

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes constitute the MELAS acronym. The disease shows maternal inheritance with considerable intrafamilial variation in expression of the disease. The age at onset varies between 3 months and 40 years, but in most cases first signs and symptoms occur before adulthood. Early development is normal in the majority of patients. The first manifestations of disease usually belong to the group of general features of...

Classification of Myelin Disorders

The history of classifications of myelin disorders shows how each classification reflects the state of scientific development of its time. A revised classification based on the most recent scientific insights is proposed at the end of this chapter. Interest in CNS myelin dates back to the nineteenth century. In 1854, Virchow was the first to suggest the name 'myelin' when he described the sheaths around axons in the CNS. It is not certain when Schwann 1810-1882 first described the cells since...

Lysosomes and Lysosomal Disorders

Lysosomes are hydrolase-rich organelles surrounded by membranes and with an acidic interior milieu. They are present in almost all types of body cells. Their number varies greatly, depending on cell type and function. They display considerable structural heterogeneity and appear in all shapes, sizes, and densities. They have been given their name because they are small bodies soma body containing various enzymes that are hydrolytic lysis dissolution . These hydrolases catalyze reactions in...

Metachromatic Leukodystrophy

Metachromatic Leukodystrophy Mri

Metachromatic leukodystrophy MLD is an autosomal recessive progressive disorder. Its incidence is estimated to be 1 40,000. The disease can be divided into three subtypes the late infantile 40 of the patients with MLD , juvenile 40 , and adult 20 variants. This subdivision is based on the age at onset, the duration, and the clinical picture of the disease. As a rule, only one variant of MLD occurs within one family, although exceptions have been reported. The age of onset in the late infantile...

Status Marmoratus

Basis Pontis

Patterns of sulcus configuration for gyral development score 2 A or B , score 3 C , and score 4 D . From Van der Knaap et al. 1996 , with permission ent brain areas using a five-point scoring system Fig. 4.5 1 The surface is smooth without gyri and sulci or there is, at most, some undulation of the cortical surface area. 2 Width of the gyri is greater than the depth of the sulci. 3 Width of the gyri is equal to the depth of the sulci. 4 Width of the gyri is less than the depth of...

Magnetic Resonance Imaging

Mri White Matter Gliosis Child

CT scan findings include hypodensity of the cerebral white matter and globus pallidus. Mildly increased density of the thalami has been reported. The MR images obtained in a fucosidosis patient show symmetrical white matter abnormalities. In some patients, the white matter signal behavior on Tr and T2-weighted images is suggestive of moderate hypomyelination the white matter is mildly hyperin-tense on both Tr and T2-weighted images Fig. 12.1 . In other patients, however, the white matter has in...

GM2 Gangliosidosis

Gangliosidosis Mri

GM2 gangliosidoses are inherited disorders of GM2 ganglioside metabolism. Its inheritance is autosomal recessive. There are three major, biochemically distinct types B, O, and AB. Among the B and O types, infantile, juvenile, and adult forms can be distinguished the AB variant is known only as an infantile form. Infantile type B is the classic Tay-Sachs disease TSD , and infantile type O is the same as Sandhoff disease SD . TSD is common in Ashkenazi Jews of eastern European origin. In the...

Myelin Disorders Definitions

'Demyelination' means, literally loss of myelin and the literal interpretation of 'demyelinating disorders' is disorders characterized by loss of myelin. The term demyelination is commonly used to indicate the process of losing myelin, which is caused by primary involvement of oligodendroglia or myelin membranes. Myelin loss that is secondary to axonal loss and simultaneous loss of axons and myelin sheaths is not usually included under the heading of demyelina-tion. However,there is...

Kearns Sayre Syndrome

Kss Syndrome Deletion

Kearns-Sayre syndrome KSS is a rare, sporadic disorder that affects males and females equally. Disease onset is before the age of 20 years. The sequence of manifestations is not constant, but the signs and symptoms in themselves are consistent. Early development is normal. Ptosis and chronic progressive external ophthalmoplegia are usually the initial signs. Apart from progressive external ophthalmoplegia the typical clinical triad includes pigmentary degeneration of the retina and cardiac...

Linked Adrenoleukodystrophy

Adrenoleukodystrophy

X-linked adrenoleukodystrophy XALD is a genetically determined disorder that mainly involves the adrenal cortex and the CNS. Inheritance is X-linked recessive. The disease has a wide phenotypic variability. The rapidly progressive childhood cerebral form accounts for about one-third of the cases. Adreno-myeloneuropathy AMN has a later onset and slower progression and accounts for about 40-45 of the patients. The relative frequency of the Addison-only form varies with age and accounts for up to...

Globoid Cell Leukodystrophy Krabbe Disease

Krabbe Disease Symptoms

Globoid cell leukodystrophy GLD , also known as Krabbe disease,is a progressive white matter disorder with autosomal recessive inheritance. A number of clinical types can be distinguished,which differ in age of onset and in the rate of clinical deterioration. The early infantile or classic type is the most common. Its incidence is estimated at 1-2 in 100 000. The other types are congenital,late-infantile, juvenile, and adolescent-adult. As a rule only one variant of GLD occurs within one...

Multiple Sulfatase Deficiency

Chromosomal Perivascular Spaces

Multiple sulfatase deficiency MSD is a very rare disorder with an autosomal recessive mode of inheritance. It occurs with a prevalence of about 1 in 1.4 million births. The disease combines the features of metachromatic leukodystrophy and mucopolysac-charidosis. It is also called mucosulfatidosis, Austin variant or variant O. Three different types of MSD have been described a neonatal form, an early-childhood form and a very rare juvenile form. The early-childhood form is the usual, or classic,...

GM1 Gangliosidosis

Gm1 Gangliosidosis Type

GM1 gangliosidosis is an autosomal recessive disorder of GM1 metabolism, resulting in variable neural and visceral accumulations. Three forms can be distinguished infantile or type 1 GM1 gangliosidosis, juvenile or type 2 GM1 gangliosidosis, and adult, chronic or type 3 GM1 gangliosidosis. Type 1 infantile GM1 gangliosidosis presents at or soon after birth, signs being poor sucking and feeding. The child is hypotonic and hypoactive and soon develops facial and peripheral edema. At times...

And Mitochondrial Leukoencephalopathies

Pyruvate Dehydrogenase Deficiency Mri

Leigh syndrome, also called subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder mainly occurring in infancy and childhood. The disease often starts before 1 year of age and leads to death in months or years. Juvenile and adult-onset forms have also been described. In most cases the disease has an autosomal recessive inheritance in some cases inheritance is maternal or X-linked. Both sexes are affected, but among infants there is a 3 2 male predominance. The course can be...