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Late Infantile Childhood GM1 Gangliosidosis
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In type 2 or so-called juvenile GM1 gangliosidosis, the onset is between 12 and 24 months, with survival for 3 to 10 years The rst sign is usually dif culty in walking, with frequent falls, followed by awkwardness of arm movements, loss of speech, severe mental regression, gradual development of spastic quadriparesis and pseudobulbar palsy (dysarthria, dysphagia, drooling), and seizures Retinal changes are variable usually they are absent, but macular red spots may be seen at the age of 10 to 12 years; vision is usually retained, but squints (comitant) are common There is a facial dysmorphism resembling that of the Hurler syndrome, and the liver and spleen are enlarged Important laboratory ndings are hypoplasia of the thoracolumbar vertebral bodies, mild hypoplasia of the acetabula, and the presence in the bone marrow of histiocytes with clear vacuoles or wrinkled cytoplasm As noted on page 807, leukocytes and cultured skin broblasts show a de ciency or absence of -galactosidase activity GM1 ganglioside accumulates in the cerebral neurons
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Late Infantile and Early Childhood Gaucher Disease
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As stated earlier, Gaucher disease usually develops in early infancy, but some cases, so-called Gaucher disease type III, may begin in childhood, between 3 and 8 years of age The clinical picture is variable and combines features of infantile Gaucher disease such as abducens palsies, dysphagia, trismus, rigidity of the limbs, and dementia with features of the late childhood early adult form,
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The Neuronal Ceroid Lipofuscinoses (Batten Disease)
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As a group, the lipofuscinoses have been the most frequent of the neurodegenerative diseases of infancy and childhood diagnosed at
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MAJOR CATEGORIES OF NEUROLOGIC DISEASE
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the Lysosomal Enzyme Laboratory of the E K Shriver Center Four types have been identi ed: Santavuori-Haltia Finnish infantile type, Jansky-Bielschowsky early-childhood type, Vogt-Spielmeyer juvenile type, and Kufs adult type All except a few adult cases are autosomal recessive The storage material in neuronal cytoplasm consists of two pigmented lipids, presumably ceroid and lipofuscin, which are cross-linked polymers of polyunsaturated fatty acids and have the property of auto uorescence Mole has published a useful review of the genetics of these diseases and points out that at least eight gene loci are implicated, for six of which the mutation has been identi ed All the infantile forms and one juvenile form of the disease are due to mutations affecting the lysosomal enzyme palmitoyl-protein thioesterase Other lysosomal enzymes are abnormal in the remaining juvenile and in the adult forms In the Finnish form of the disease, infants from 3 to 18 months of age, after a normal period of development, undergo psychomotor regression with ataxia, hypotonia, and widespread myoclonus There are retinal changes with extinction of the electroretinogram, slowing of the EEG with spike and slow-wave discharges, and eventually an isoelectric record Within a few years these patients become blind, develop spastic quadriplegia and microcephaly, and succumb In the Jansky-Bielschowsky type, the onset of symptoms is between 2 and 4 years, after normal or slightly retarded earlier development, with survival to 4 to 8 years of age Usually the rst neurologic manifestations are seizures (petit mal or grand mal) and myoclonic jerks evoked by proprioceptive and other sensory stimuli, including voluntary movement and emotional excitement Incoordination, tremor, ataxia, and spastic weakness with lively tendon re exes and Babinski signs, deterioration of mental faculties, and dysarthria proceed to dementia and eventually to mutism In patients with relatively late onset, a progressive dementia is the carTable 37-7 Classi cation of the mucopolysaccharidoses
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NUMBER EPONYM CLINICAL MANIFESTATIONS
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dinal manifestation Visual failure may occur early in some cases because of retinal degeneration (of rods and cones) with pigmentary deposits, but in others vision is normal The electroretinogram becomes isoelectric if vision is affected Abnormal inclusions (translucent vacuoles) are seen in 10 to 30 percent of circulating lymphocytes, and azurophilic granules in neutrophils High-voltage EEG spikes are induced by photic stimuli Only in early-onset cases is there microcephaly Pathologic examination shows neuronal loss in the cerebral and cerebellar cortices (granule and Purkinje cells), and curvilinear storage particles and osmophilic granules are visible in the remaining neurons Inclusions are also observed in cutaneous nerve twigs and endothelial cells of blood vessels, ndings which permit diagnosis during life by electron microscopy of skin, conjunctival, or rectal mucosal biopsies In many patients with lipofuscinoses, diagnosis can be con rmed by demonstrating the presence of one of several recently identi ed gene mutations There are no de nite markers for the group in blood or urine, but in some patients a structural component of mitochondria is excreted in excess (the socalled C-fragment) In the differential diagnosis, one must consider late infantile GM1 gangliosidosis, idiopathic epilepsy, Alpers disease, and other forms of neuronal ceroid-lipofuscinosis The lipofuscinoses of later onset the Vogt-Spielmeyer (juvenile) type and the Kufs (adult) type are discussed further on There is no treatment for the basic disease process, but approaches involving gene therapy are being explored
Mucopolysaccharidoses (Table 37-7)
This is a group of diseases in which the storage of lipid in neurons is combined with that of polysaccharides in connective tissues As a consequence there is a conjunction of neurologic and skeletal
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