Neurology of hereditary metabolic diseases of children:
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
New York
McGraw-Hill Division
2006
|
| Ausgabe: | 3. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | 1. Aufl. u.d.T.: Adams, Raymond D.: Neurology of hereditary metabolic diseases oc children Includes bibliographical references and index |
| Beschreibung: | VII, 542 S. |
| ISBN: | 0071445080 |
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| 245 | 1 | 0 | |a Neurology of hereditary metabolic diseases of children |c Gilles Lyon, Edwin H. Kolodny, Gregory M. Pastores |
| 250 | |a 3. ed. | ||
| 264 | 1 | |a New York |b McGraw-Hill Division |c 2006 | |
| 300 | |a VII, 542 S. | ||
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| 500 | |a 1. Aufl. u.d.T.: Adams, Raymond D.: Neurology of hereditary metabolic diseases oc children | ||
| 500 | |a Includes bibliographical references and index | ||
| 650 | 4 | |a Maladies héréditaires métaboliques | |
| 650 | 4 | |a Métabolisme, Troubles du, chez l'enfant | |
| 650 | 4 | |a Neurologie pédiatrique | |
| 650 | 4 | |a Child | |
| 650 | 4 | |a Infant | |
| 650 | 4 | |a Metabolic disorders in children | |
| 650 | 4 | |a Metabolism, Inborn Errors | |
| 650 | 4 | |a Metabolism, Inborn errors of | |
| 650 | 4 | |a Nervous System Diseases | |
| 650 | 4 | |a Pediatric neurology | |
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Datensatz im Suchindex
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| adam_text | Contents
Preface xi
1. General Aspects of Hereditary Metabolic Diseases of the Nervous System 1
Etiology 2
Classification 5
Clinical Criteria of a Hereditary Metabolic Disease:
Questions of Developmental Arrest and Regression 5
Plan of This Book 8
2. The Neurology of Neonatal Hereditary Metabolic Diseases 9
Neonatal Hereditary Metabolic Diseases: General Symptomatology,
Characteristic Features, and Diagnostic Tests 9
Classification of Hereditary Metabolic Diseases in the Neonatal Period 17
Conclusions . 56
3 Early Infantile Progressive Metabolic Encephalopathies: Clinical Problems
and Diagnostic Considerations 65
Main Features and Diagnostic Guidelines 66
Early Infantile Neurometabolic Disorders with a Relentlessly
Progressive Course 78
Hereditary Metabolic Diseases with Acute and Remitting Neurologic Disorders 142
Inherited Disorders of Folate Transport and Metabolism 162
Differential Diagnosis of Early Infantile Hereditary Metabolic Diseases 163
Other Disorders with Clinical Expression in the Early Infantile Period 164
Conclusions 165
4. Late Infantile Progressive Genetic Encephalopathies: (Metabolic
Encephalopathies of the Second Year of Life) 179
General Considerations 179
Progressive Walking Difficulties Related to Lesions of the Central and/or
Peripheral Motor Neurons (Spastic Paraplegia and/or Peripheral Neuropathy) 180
Unsteady Gait and Incoordinate Movements Resulting from
Cerebellar Ataxia, Dystonia, Choreoathetosis, or Some Combination Thereof 198
Intention Myoclonus (Polymyoclonus) Variably Associated with
Epilepsy, Cerebellar Ataxia and Ophthalmologic Changes 205
Intermittent Episodes of Acute Neurologic Dysfunction and Coma 210
v
vi NEUROLOGY OF HEREDITARY METABOLIC DISEASES OF CHILDREN
Mental Retardation and Regression with Parallel Development of Skeletal I
and Other Somatic Abnormalities 211 ;
Psychomotor Retardation and Arrest of Psychic Function 236
5. Childhood and Adolescent Hereditary Metabolic Disorders 243
General Features 244
Common Clinical Syndromes 245
Progressive Spastic Paraplegias 245
Predominantly Progressive Cerebellar Ataxias 257
Hereditary Metabolic Disorders Presenting with Action Myoclonus,
Seizures, and Ataxia 266
Hereditary, Predominantly Extrapyramidal Disorders of Late
Childhood and Adolescence 273
Familial Polyneuropathies in Juvenile Metabolic Disease 300
Progressive Visual Loss as an Initial Manifestation in Juvenile
Hereditary Metabolic Disorders 320
Familial Metabolic Encephalopathies with Clinical Evidence
of Diffuse Nervous System Disorder 321
Progressive Metabolic and Degenerative Diseases with
Special Neurologic and Somatic (Essentially Cutaneous) Features 353
Progressive Genetic Encephalopathies Leading to Stroke 361
Metabolic Disorders with Intermittent Neurologic Signs 367
Familial Encephalopathies in Which Personality Changes,
Behavorial Disturbances, and Dementia May Be Presenting Signs 370
Isolated Delay in Mental and Motor Development 372
6. Distinction Between Hereditary Metabolic Diseases and Other
Diseases of the Child s Nervous System 393
Differential Diagnosis of Genetic Neurometabolic Diseases in the
Neonatal Period 394
Differentiation of Hereditary Metabolic Diseases from Static
Encephalopathies and Developmental Abnormalities in Infancy and
Early Childhood 398
Differential Diagnosis of Neurologic Syndromes Encountered in the
Hereditary Metabolic and Degenerative Encephalopathies of Childhood
and Adolescence 416
Principal Features and Differential Diagnosis of Hereditary
Metabolic and Degenerative Neuropathies 439
Lower Motor Neuron Disease in the Hereditary Metabolic Disorders 446
Myopathies in the Hereditary Metabolic Disorders 447
Neonatal or Early Infantile Hypotonia and Hypomobility in Hereditary
Metabolic Disorders and Other Conditions 447
Ocular Abnormalities 455
Deafness 462
CONTENTS vii
7. Visceral and Other Tissue Abnormalities Associated with
Hereditary Metabolic Encephalopathies 467
Liver and Spleen 468
Cardiovascular System 468
Kidney 470
Adrenal Insufficiency 470
Diabetes Mellitus 474
Skeletal System 474
Alterations of Skin and Hair 474
Hematologic Changes 474
Facial Dysmorphism, Somatic Malformations 477
Respiratory Tract 477
Gastrointestinal Signs, Malnutrition, and Growth Failure 479
8. Laboratory Tests for the Diagnosis of Hereditary Metabolic Encephalopathies 483
Biochemistry and Molecular Biology 484
Radiology and Neuroimaging 487
Electrophysiologic Methods 491
Hematologic Tests 492
Examination of Biopsied Tissue 493
Practical Considerations for the Collection of Specimens 496
9. Treatment and Prevention of Neurometabolic Disorders 501
Correction of the Genetic Metabolic Defect 502
Vitamin Therapy and Supplement Provision 508
Enzyme Replacement Therapy 509
Gene Therapy for Neurometabolic Diseases 512
Agents Acting at the Neurotransmitter Pathways 513
Symptomatic Treatment 513
Prevention 514
Acronyms 519
Index 523
|
| adam_txt |
Contents
Preface xi
1. General Aspects of Hereditary Metabolic Diseases of the Nervous System 1
Etiology 2
Classification 5
Clinical Criteria of a Hereditary Metabolic Disease:
Questions of Developmental Arrest and Regression 5
Plan of This Book 8
2. The Neurology of Neonatal Hereditary Metabolic Diseases 9
Neonatal Hereditary Metabolic Diseases: General Symptomatology,
Characteristic Features, and Diagnostic Tests 9
Classification of Hereditary Metabolic Diseases in the Neonatal Period 17
Conclusions . 56
3 Early Infantile Progressive Metabolic Encephalopathies: Clinical Problems
and Diagnostic Considerations 65
Main Features and Diagnostic Guidelines 66
Early Infantile Neurometabolic Disorders with a Relentlessly
Progressive Course 78
Hereditary Metabolic Diseases with Acute and Remitting Neurologic Disorders 142
Inherited Disorders of Folate Transport and Metabolism 162
Differential Diagnosis of Early Infantile Hereditary Metabolic Diseases 163
Other Disorders with Clinical Expression in the Early Infantile Period 164
Conclusions 165
4. Late Infantile Progressive Genetic Encephalopathies: (Metabolic
Encephalopathies of the Second Year of Life) 179
General Considerations 179
Progressive Walking Difficulties Related to Lesions of the Central and/or
Peripheral Motor Neurons (Spastic Paraplegia and/or Peripheral Neuropathy) 180
Unsteady Gait and Incoordinate Movements Resulting from
Cerebellar Ataxia, Dystonia, Choreoathetosis, or Some Combination Thereof 198
Intention Myoclonus (Polymyoclonus) Variably Associated with
Epilepsy, Cerebellar Ataxia and Ophthalmologic Changes 205
Intermittent Episodes of Acute Neurologic Dysfunction and Coma 210
v
vi NEUROLOGY OF HEREDITARY METABOLIC DISEASES OF CHILDREN
Mental Retardation and Regression with Parallel Development of Skeletal I
and Other Somatic Abnormalities 211 ;
Psychomotor Retardation and Arrest of Psychic Function 236 '
5. Childhood and Adolescent Hereditary Metabolic Disorders 243
General Features 244
Common Clinical Syndromes 245
Progressive Spastic Paraplegias 245
Predominantly Progressive Cerebellar Ataxias 257
Hereditary Metabolic Disorders Presenting with Action Myoclonus,
Seizures, and Ataxia 266
Hereditary, Predominantly Extrapyramidal Disorders of Late
Childhood and Adolescence 273
Familial Polyneuropathies in Juvenile Metabolic Disease 300
Progressive Visual Loss as an Initial Manifestation in Juvenile
Hereditary Metabolic Disorders 320
Familial Metabolic Encephalopathies with Clinical Evidence
of Diffuse Nervous System Disorder 321
Progressive Metabolic and Degenerative Diseases with
Special Neurologic and Somatic (Essentially Cutaneous) Features 353
Progressive Genetic Encephalopathies Leading to Stroke 361
Metabolic Disorders with Intermittent Neurologic Signs 367
Familial Encephalopathies in Which Personality Changes,
Behavorial Disturbances, and Dementia May Be Presenting Signs 370
Isolated Delay in Mental and Motor Development 372
6. Distinction Between Hereditary Metabolic Diseases and Other
Diseases of the Child's Nervous System 393
Differential Diagnosis of Genetic Neurometabolic Diseases in the
Neonatal Period 394
Differentiation of Hereditary Metabolic Diseases from Static
Encephalopathies and Developmental Abnormalities in Infancy and
Early Childhood 398
Differential Diagnosis of Neurologic Syndromes Encountered in the
Hereditary Metabolic and Degenerative Encephalopathies of Childhood
and Adolescence 416
Principal Features and Differential Diagnosis of Hereditary
Metabolic and Degenerative Neuropathies 439
Lower Motor Neuron Disease in the Hereditary Metabolic Disorders 446
Myopathies in the Hereditary Metabolic Disorders 447
Neonatal or Early Infantile Hypotonia and Hypomobility in Hereditary
Metabolic Disorders and Other Conditions 447
Ocular Abnormalities 455
Deafness 462
CONTENTS vii
7. Visceral and Other Tissue Abnormalities Associated with
Hereditary Metabolic Encephalopathies 467
Liver and Spleen 468
Cardiovascular System 468
Kidney 470
Adrenal Insufficiency 470
Diabetes Mellitus 474
Skeletal System 474
Alterations of Skin and Hair 474
Hematologic Changes 474
Facial Dysmorphism, Somatic Malformations 477
Respiratory Tract 477
Gastrointestinal Signs, Malnutrition, and Growth Failure 479
8. Laboratory Tests for the Diagnosis of Hereditary Metabolic Encephalopathies 483
Biochemistry and Molecular Biology 484
Radiology and Neuroimaging 487
Electrophysiologic Methods 491
Hematologic Tests 492
Examination of Biopsied Tissue 493
Practical Considerations for the Collection of Specimens 496
9. Treatment and Prevention of Neurometabolic Disorders 501
Correction of the Genetic Metabolic Defect 502
Vitamin Therapy and Supplement Provision 508
Enzyme Replacement Therapy 509
Gene Therapy for Neurometabolic Diseases 512
Agents Acting at the Neurotransmitter Pathways 513
Symptomatic Treatment 513
Prevention 514
Acronyms 519
Index 523 |
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| spelling | Lyon, Gilles Verfasser aut Neurology of hereditary metabolic diseases of children Gilles Lyon, Edwin H. Kolodny, Gregory M. Pastores 3. ed. New York McGraw-Hill Division 2006 VII, 542 S. txt rdacontent n rdamedia nc rdacarrier 1. Aufl. u.d.T.: Adams, Raymond D.: Neurology of hereditary metabolic diseases oc children Includes bibliographical references and index Maladies héréditaires métaboliques Métabolisme, Troubles du, chez l'enfant Neurologie pédiatrique Child Infant Metabolic disorders in children Metabolism, Inborn Errors Metabolism, Inborn errors of Nervous System Diseases Pediatric neurology Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf Kind (DE-588)4030550-8 gnd rswk-swf Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf Neurologie (DE-588)4041888-1 gnd rswk-swf Neurologie (DE-588)4041888-1 s Stoffwechselkrankheit (DE-588)4057700-4 s Angeborene Krankheit (DE-588)4331107-6 s Kind (DE-588)4030550-8 s 1\p DE-604 Kolodny, Edwin H. Sonstige oth Pastores, Gregory M. Sonstige oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014877860&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Lyon, Gilles Neurology of hereditary metabolic diseases of children Maladies héréditaires métaboliques Métabolisme, Troubles du, chez l'enfant Neurologie pédiatrique Child Infant Metabolic disorders in children Metabolism, Inborn Errors Metabolism, Inborn errors of Nervous System Diseases Pediatric neurology Stoffwechselkrankheit (DE-588)4057700-4 gnd Kind (DE-588)4030550-8 gnd Angeborene Krankheit (DE-588)4331107-6 gnd Neurologie (DE-588)4041888-1 gnd |
| subject_GND | (DE-588)4057700-4 (DE-588)4030550-8 (DE-588)4331107-6 (DE-588)4041888-1 |
| title | Neurology of hereditary metabolic diseases of children |
| title_auth | Neurology of hereditary metabolic diseases of children |
| title_exact_search | Neurology of hereditary metabolic diseases of children |
| title_exact_search_txtP | Neurology of hereditary metabolic diseases of children |
| title_full | Neurology of hereditary metabolic diseases of children Gilles Lyon, Edwin H. Kolodny, Gregory M. Pastores |
| title_fullStr | Neurology of hereditary metabolic diseases of children Gilles Lyon, Edwin H. Kolodny, Gregory M. Pastores |
| title_full_unstemmed | Neurology of hereditary metabolic diseases of children Gilles Lyon, Edwin H. Kolodny, Gregory M. Pastores |
| title_short | Neurology of hereditary metabolic diseases of children |
| title_sort | neurology of hereditary metabolic diseases of children |
| topic | Maladies héréditaires métaboliques Métabolisme, Troubles du, chez l'enfant Neurologie pédiatrique Child Infant Metabolic disorders in children Metabolism, Inborn Errors Metabolism, Inborn errors of Nervous System Diseases Pediatric neurology Stoffwechselkrankheit (DE-588)4057700-4 gnd Kind (DE-588)4030550-8 gnd Angeborene Krankheit (DE-588)4331107-6 gnd Neurologie (DE-588)4041888-1 gnd |
| topic_facet | Maladies héréditaires métaboliques Métabolisme, Troubles du, chez l'enfant Neurologie pédiatrique Child Infant Metabolic disorders in children Metabolism, Inborn Errors Metabolism, Inborn errors of Nervous System Diseases Pediatric neurology Stoffwechselkrankheit Kind Angeborene Krankheit Neurologie |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014877860&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT lyongilles neurologyofhereditarymetabolicdiseasesofchildren AT kolodnyedwinh neurologyofhereditarymetabolicdiseasesofchildren AT pastoresgregorym neurologyofhereditarymetabolicdiseasesofchildren |