Pediatric Neurology
Oxford University Press Inc (Verlag)
978-0-19-539458-0 (ISBN)
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The bedside consultation presentation of the cases encourages the reader, whether she or he be a pediatrician, primary care practitioner or medical student, to formulate a differential diagnosis and treatment plan for a wide variety of pediatric neurological problems and diseases.
Section of NeurologyDartmouth-Hitchcock Medical Center Lebanon, NH
Table of Contents
1. Absence Seizures
Absence seizures are brief generalized seizures during which the child is partially or totally unaware. Differentiating absences from other seizure types and daydreaming may be challenging. However, to avoid inappropriate therapy this differentiation is important. The clinical EEG features of this condition are discussed.
2. Acute Cerebellar Ataxia
A deterioration in gait in a toddler requires prompt investigation. The differential diagnosis of acute ataxia is discussed. While the condition is usually benign, it is important to rule out other causes of ataxia.
3. Alternating Hemiplegia of Childhood
Children with alternating hemiplegia of childhood rarely are diagnosed at onset of the disorder because of the complexity of the signs and symptoms. While hemiplegia occurs, this is but one of many symptoms of the disorder. Keys to the diagnosis are made.
4. Benign Neonatal Sleep Myoclonus
Although neonatal sleep myoclonus is a common condition, it is far too often misdiagnosed as an epileptic condition. The condition should be readily diagnosed if key questions are asked.
5. Benign Rolandic Epilepsy
Benign Rolandic epilepsy also called Benign Epilepsy with Centro-temporal spikes is the most common epilepsy syndrome in children. The clinical history combined with an EEG should establish the diagnosis and preclude unnecessary tests.
6. Brain Abscess
Failure to diagnose a brain abscess can result in significant morbidity and even death. Brain abscesses act as brain mass lesions and can produce a myriad of symptoms and signs. The differential diagnosis is discussed.
7. Breath Holding Spells/Pallid Infantile Syncope
While a benign condition, breath holding spells and pallid infantile syncope can result in considerable anxiety in families. Keys to making the diagnosis are reviewed.
8. Childhood Epilepsy with Occipital Paroxysms
Occipital epilepsy should be considered in young children who have nocturnal emesis. The clinical and EEG features of both Panayiotopoulos and Gastaut syndrome are reviewed.
9. Congenital Myotonic Dystrophy
Infants with congenital myotonic dystrophy can be severely impaired at birth. Examining the mother of the child may establish the diagnosis. The genetic basis of this condition is described.
10. Discitis
The sudden onset of refusal to walk in an otherwise healthy child can be perplexing. Discitis is an unusual condition that can be diagnosed with neuroimaging of the spine. Clinical and radiographical features of discitis are described.
11. Dopamine Responsive Dystonia
Dopamine responsive dystonia is a remarkable condition that often goes undiagnosed. If suspected and treated appropriately there can be a miraculous improvement. Clues to the diagnosis are discussed.
12. Duchenne Muscular Dystrophy
Differentiating the various forms of the muscular dystrophies can be difficult. The key features of Duchenne muscular dystrophy are compared with other muscle disorders.
13. Febrile Seizures
Seizures associated with fever are common in children. While most children with febrile seizures do well, in a small percentage the febrile seizure is the first sign of epilepsy. An approach to the diagnosis of febrile seizures is provided.
14. Fragile X Syndrome
Fragile X is the most common cause of mental retardation in boys. Despite its frequency, it often goes undiagnosed. Clinical features of the disorder are described.
15. Hashimoto's Encephalopathy
A rare but readily treated encephalopathy. The diagnosis should be considered in patients with an unexplained encephalopathy. Clues to the diagnosis are presented here.
16. Hydrocephalus
Hydrocephalus can have many causes. Failure to diagnosis the child promptly can have devastating consequences. Signs and symptoms of hydrocephalus are provided.
17. Infantile Spasms
Infantile spasms is a devastating condition characterized by epileptic spasms, a markedly abnormal EEG, and cognitive plateauing or regression. In addition to recognizing the condition early, it is important to determine an etiology.
18. Juvenile Myoclonic Epilepsy
Juvenile myoclonic epilepsy is a common cause of seizures in teenagers. Recognizing the condition will direct the evaluation and treatment plan.
19. Lissencephaly
Lissencephaly is a devastating genetic disorder with profound mental retardation and epilepsy. The various forms of lissencephaly and their genetic substrate are discussed.
20. Moya-moya Disase
Moya-moya is an occlusive vascular disorder that can result in brain ischemia. A high index of suspicion based on clinical clues and neuroimaging can provide the diagnosis.
21. Neurofibromatosis
Neurofibromatosis is one of the cutaneous phakomatoses with characteristic skin lesions. There are two main types of neurofibromatoses. Diagnostic criteria are outlined.
22. Nonketotic Hyperglycinemia
This is a disorder characterized by severe neurological impairment with seizures. The EEG can be suggestive of the disorder. The condition is diagnosed by examination of the spinal fluid.
23. Opsoclonus-Myoclonus Syndrome
This condition is a paraneoplastic syndrome characterized by ataxia and myoclonus. Opsoclonus is a key to the diagnosis. When diagnosed it is important to look for an occult neuroblastoma.
24. Ornithine Transcarbamylase Deficiency
This is one of the urea cycle defects which can present within days of birth. Prompt diagnosis can prevent many of the serious sequelae associated with accumulation of ammonia.
25. Rett Syndrome
This is the most common cause of mental retardation in girls. A history and examination should be diagnostic although genetic testing is available.
26. Spinal Muscular Atrophy
One of the most devastating conditions to affect young children. The children are typically floppy with absent reflexes. When suspected the diagnosis can be confirmed through genetic testing.
27. Status Epilepticus
Status epilepticus is a medical emergency requiring prompt intervention. A guide to pharmacological treatment of status epilepticus is provided.
28. Tethered Cord
A tethered cord can present with a progressive deterioration in gait. Understanding the anatomical basis of the disorder provides a framework for the clinical symptoms. Neurosurgical intervention can have pronounced beneficial effects.
Index
| Erscheint lt. Verlag | 22.5.2010 |
|---|---|
| Zusatzinfo | Illustrations |
| Verlagsort | New York |
| Sprache | englisch |
| Gewicht | 246 g |
| Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete ► Neurologie |
| Medizin / Pharmazie ► Medizinische Fachgebiete ► Pädiatrie | |
| ISBN-10 | 0-19-539458-5 / 0195394585 |
| ISBN-13 | 978-0-19-539458-0 / 9780195394580 |
| Zustand | Neuware |
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