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Neuroblastoma Pathology and Classification for Precision Prognosis and Therapy Stratification

Introduction Neuroblastoma is often used as a collective term for all types of peripheral neuroblastic tumors of neural crest origin and includes Neuroblastoma, Ganglioneuroblastoma, and Ganglioneuroma. Historically tumors in this group were described as “enigmatic” because of their unique and often unpredictable clinical behaviors, such as spontaneous regression, tumor maturation, and aggressive progression refractory to therapy. These clinical features are now considered to be closely associated…

Acquired Myopathies

Clinical Vignette A 55-year-old female with a recent history of interstitial lung disease reported weakness in her arms and legs. Recently she had noticed that she could not climb the 10 steps up from her basement. She had also developed difficulty picking up jars from the shelves of tall cabinets, as well as an inability to keep her hands over her head to brush her hair.…

Hereditary Myopathies

In this chapter, we discuss a group of hereditary, often progressive, muscle disorders. These can be categorized as channelopathies, metabolic and mitochondrial myopathies, muscular dystrophies, and congenital myopathies ( Table 70.1 ). TABLE 70.1 Hereditary Myopathies Myopathy Type Locus Gene Product Dystrophies Myotonic Classic distal 1 a AD 19q13 Myotonin protein kinase Proximal (PROMM) 2 a AD 3q21 ZNF9 (zinc finger protein) Limb-girdle 1A AD 5q22–34…

Other Neuromuscular Transmission Disorders

Lambert-Eaton Myasthenic Syndrome Clinical Vignette A 61-year-old woman with no remarkable past medical history developed, over a few months, weakness of her legs with difficulty getting in and out of chairs and climbing stairs. She also experienced significant fatigue. This persisted for 6 months, and then, she developed dysarthria, mild dysphagia, blurred vision, and mild proximal upper extremity weakness. She also endured dry eyes and dry…

Myasthenia Gravis

Clinical Vignette A 65-year-old previously healthy man presented to the emergency department for several months of progressive upper extremity weakness and blurry vision. He reports that over the past 3 months, playing the violin and mowing the lawn have become more difficult because the longer he does these activities, the weaker his arms become. His hands and forearms still feel strong. His brother accompanies him and…

Acquired Polyneuropathies

Diagnostic Approach Clinical Vignette A 65-year-old man developed a tingling sensation in the toes, which quickly gave way to painful numbness. Over the next few months, paresthesias ascended to involve his distal thighs and fingertips. Within 6 months, he required a walker to ambulate because of leg weakness. During the review of systems, he commented on the fogginess of vision and light-headedness that he experiences upon…

Hereditary Polyneuropathies

Clinical Vignette A 13-year-old boy presents with frequent tripping. He enjoys playing baseball but has had several falls this season, one resulting in a fractured ankle. Born at term, his early developmental milestones were normal and he walked at 13 months (normal). On examination, he has mild wasting of the distal lower extremities without contractures. He walks well on his toes but cannot walk on his…

Other Peripheral Hyperexcitability Syndromes

Peripheral nerve hyperexcitability (PNH) syndromes present with involuntary, continuous muscle overactivity due to hyperexcitability of the motor axon. PNH syndromes are a heterogeneous group of disorders with distinct clinical and electrodiagnostic features. Muscle cramps are the hallmark of these conditions, along with muscle twitching (fasciculations and myokymia) and pseudo-myotonia (delayed relaxation after contraction). Isaac syndrome is the best known of these disorders, whereas cramp-fasciculation syndrome may…

Stiff-Person Syndrome

Clinical Vignette A 48-year-old hospital administrator began having difficulties during meetings when her back would stiffen up every time she was asked to get up to speak. Subsequently, she developed episodes of anxiety accompanied by her left leg tightening up. Her internist referred her to a counselor thinking these episodes were “emotionally driven.” However, they became more frequent, usually occurring when standing and talking to people…

Other Motor Neuron Diseases and Motor Neuropathies

Clinical Vignette A 35-year-old man sought medical attention for leg weakness. He noticed difficulty getting up from low chairs and ascending stairs. Looking back, he reported that 10 years previously he had noticed some difficulty when trying to stand after squatting to paint the baseboard in his dining room; he had to push on his thighs to straighten his knees. He denied weakness in his arms…

Amyotrophic Lateral Sclerosis

Clinical Vignette A 54-year-old man reported painless left arm weakness for 6 months. While exercising at the gym, he noticed difficulty lifting weights with his left arm. Progressively he had difficulty cutting food and opening jars with his left hand. He reported cramps in both arms and visible muscle twitching in his left arm and occasionally in other regions of the body. He denied neck pain,…

Mononeuropathies of the Lower Extremities

Sciatic Neuropathies Clinical Vignette An 82-year-old frail woman fell in her home. She sustained a hip fracture, which necessitated surgical repair. Postoperatively, she received anticoagulation. Two days later, she had discomfort in her right buttock and foot weakness. Within 24 hours, marked buttock pain, and numbness and paralysis of all muscles below the right knee developed. Computed tomographic (CT) scan revealed a pelvic hematoma. Electromyography (EMG)…

Mononeuropathies of the Upper Extremities

Mononeuropathies of the Shoulder Girdle Mononeuropathies of the shoulder girdle are relatively uncommon and can be challenging to diagnose. Unlike other mononeuropathies, pain is often the cardinal symptom. Shoulder pain and weakness can originate not only from mononeuropathies, but also from cervical disc disease, disorders of the musculoskeletal system, or vascular causes. True weakness can be difficult to separate from impaired effort due to pain. Shoulder…

Brachial and Lumbosacral Plexopathies

Clinical Vignette A 54-year-old man developed acute-onset right thigh, hip, and buttock pain. He reported right knee “buckling” when he stepped off a curb, resulting in a fall. He also noted right foot drop. Paresthesias developed over the right thigh, shin, and foot. He required oral narcotics for pain relief. His past medical history was remarkable for type II diabetes mellitus, for which he took an…

Back Pain

Epidemiology Low back pain is an extremely common condition; according to the World Health Organization's Global Burden of Disease Study, of 291 studied conditions, it is the greatest contributor to global disability. As the leading cause of activity limitation and work disability, low back pain is responsible for tremendous costs by way of healthcare expenditure, disability insurance, and lost productivity. Chronic low back pain, defined typically…

Lumbar Radiculopathy

Clinical Vignette A 53-year-old man had a history of occasional severe episodes of low back pain radiating down his buttock and posterior left thigh; it had begun with an athletic injury at age 17. Typically he experienced exacerbations, which lasted for a few days, every few years. Precipitating factors included sitting for prolonged periods and activities such as jogging or playing hockey. In general he “toughed…

Cervical Radiculopathy

Clinical Vignette A 42-year-old woman presented with a 2-week history of increasingly severe neck pain with radiation to the back of her right upper arm. In retrospect she had developed acute right medial scapular pain 4 weeks earlier after carrying a heavy briefcase to a meeting; this discomfort improved within 10 days. However, she then developed the neck and right arm discomfort; this was associated with…

Myelopathies

The spinal cord may be affected by a broad spectrum of disorders, some of them directly damaging the cord (intramedullary), others affecting the cord indirectly due to pathologies involving the extramedullary region, including the intradural and extradural spaces. Some of these conditions present acutely, whereas others have a more progressive course. A careful history and detailed neurologic exam are extremely important to help localize where the…

Anatomic Aspects of Spinal Cord Disorders

Knowledge of spinal cord neuroanatomy is integral to the understanding, diagnosis, and management of spinal cord disorders. The spinal cord syndrome depends on site, process, and extent of spinal cord damage. A myelopathy is defined as any disorder that impairs spinal cord function. Myelopathies will be presented in the next chapter. Spinal Cord Anatomy External Structure The spinal cord has major functional importance, despite representing only…

Syncope

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