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to be made from a biopsy of a peripheral nerve The stored material, sulfatide, stains brown-orange rather than purple with aniline dyes Sulfatides are also PAS-positive in frozen sections The diagnostic laboratory ndings, in addition to the MRI and histologic changes, are the elevated CSF protein (75 to 250 mg/ dL) and a marked increase in sulfatide in urine and an absence of arylsulfatase A in white blood cells, in serum, and in cultured broblasts Assays of arylsulfatase A activity in cultured broblasts and amniocytes permit the identi cation of carriers and prenatal diagnosis of the disease, but a pseudode ciency of the enzyme is known In this condition, measured enzyme activity is 10 percent of normal, but no clinical manifestations result Treatment with enzyme replacement or bone marrow transplantation is being tried Marrow transplant appears to be of less bene t once the patient becomes symptomatic, but it may be useful early in the disease and in the treatment of an asymptomatic sibling of an index case The differential diagnosis of this leukodystrophy is from neuroaxonal dystrophy (see below), cases of early-onset inherited polyneuropathy, late-onset Krabbe disease, and childhood forms of Gaucher disease and Niemann-Pick disease A variant of metachromatic leukoencephalopathy, due to a de ciency of the isoenzymes of arylsulfatase A, B, and C, was described by Austin in 1973 He called it multiple sulfatase de ciency The neurologic manifestations resemble those of metachromatic leukodystrophy, but, in addition, there are facial and skeletal changes similar to those of a mucopolysaccharidosis Deafness, hepatic enlargement, ichthyosis, and beaking of lumbar vertebrae are additional ndings

in some cases Metachromatic material is found in the urinary sediment Pathologically, in addition to metachromasia of degenerating white matter in cerebrum and peripheral nerve, there may be storage material (sulfated glycolipids), like that found in the gangliosidoses in neurons as well as in liver, gallbladder, and kidney Granules are demonstrable in neutrophilic leukocytes There has also been described a state of arylsulfatase pseudode ciency, which exists as a polymorphism in about 7 percent of Europeans and makes the point that low enzyme levels alone are insuf cient to be expressed as a phenotype of metachromatic leukodystrophy Forms of metachromatic leukodystrophy developing in adult years are discussed further on

FIGURE 1-16

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such as palsies of horizontal gaze, diffuse myoclonus, generalized seizures, and a chronic course (Winkelman et al) The diagnosis is established by the nding of splenomegaly, Gaucher cells, glucocerebroside storage, and de cient activity of glucocerebrosidase in leukocytes or cultured broblasts

A number of cases of subacute or chronic neurovisceral storage diseases with early signs of hepatosplenomegaly and later signs (2 to 4 years) of neurologic involvement have been described Crocker and Farber classi ed them as types III and IV Niemann-Pick disease Others have classi ed them as types C and D, although it is now generally agreed that they are best considered a single entity The neurologic disorder consists of progressive dementia, dysarthria, ataxia, rarely extrapyramidal signs (choreoathetosis), and paralysis of horizontal and vertical gaze, the latter being a distinguishing feature On attempting to look to the side, some of the patients make head-thrusting movements of the same type that one observes in ataxia-telangiectasia and the oculomotor apraxia of Cogan (page 873) Lateral eye movements are full on passive movement of the head (oculocephalic maneuver) Convergence is also de cient A special syndrome called juvenile dystonic lipidosis is characterized by extrapyramidal symptoms and paralysis of vertical eye movements The syndrome of the sea-blue histiocyte (liver, spleen, and bone marrow contain histiocytes with sea-blue granules) in which there is retardation in mental and motor development, grayish macular degeneration, and, in one of our cases, posterior column and pyramidal degeneration may be another variant The diagnosis is made by bone marrow biopsy, which discloses vacuolated macrophages and sea-blue histiocytes, and by measuring the defect in cholesterol esteri cation in cultured broblasts

This chapter has described the special software features that come with the Exadata Storage Server Most of these features just work and do not require extensive interaction from you There is also software included with the Exadata Storage Server that is used to control and monitor the operation of the previously described features You have seen a few mentions about this software earlier in this chapter, and will learn much more about the actual use of these programs and command interfaces in subsequent chapters, most notably 5 on management, as it relates to specific tasks But before leaving this chapter, you should get a general introduction to the management software that comes with Exadata, as well as a general overview of the command interface to this software

Neuroaxonal Dystrophy (Degeneration)

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IEEE-1394 connectors are slightly smaller than DB-15 monitor connectors and contain two sockets Each socket is round and contains 6 wires The connector is roughly rectangular, with one rounded side to ensure proper orientation in the port (see Figure 1-16)

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