First Encounters

This chapter describes disorders that can be diagnosed as the patient enters the consulting room, and how the patient turns to close the door, walks toward the clinician and shakes the clinician’s hand. Much information is gleaned by inspecting the face, clothes, fingernails, and jewelry or listening to the voice and smelling the breath. The clinician works as a bedside Sherlock Holmes. Some of the symptoms addressed in this chapter include hypersalivation, Horner's syndrome, and macroglossia. Individual disorders described include idiopathic intracranial hypertension, neurofibromatosis type 1, Sturge-Weber syndrome, Waardenburg syndrome, Vogt Harada Koyanagi syndrome, Fabry’s disease, fragile X syndrome, relapsing polychondritis, myasthenia gravis, Ehlers Danlos Syndrome type IV, Carney complex, cocaine and meth addiction, and ankylosing spondylitis, among others.

Spinal Lesions and Cerebrospinal Fluid

This chapter expounds on the major lesions of the spinal cord, whether from within the cord or from outside it, with particular emphasis on syringomyelia. Points from the history and examination that aid lesion localization are detailed, together with tips that might lead to a speedy diagnosis. Diagnostic clues for specific disorders are listed, such as spinal dural arteriovenous fistula and claudication. Detail is supplied on infectious myelopathies, in particular recurrent myelopathy and recurrent meningitis. Clues are given that would allow rapid interpretation of cerebrospinal fluid analysis, including high or low cell–protein ratio, cell and protein levels, chronic polymorphonuclear reaction, eosinophilia, and low glucose. The causes of a dry spinal tap are also outlined.

Epilepsy and Sleep Disorders

This chapter lists diagnostic clues that allow identification of various syndromes by inspection alone, such as tuberous sclerosis, Sturge Weber syndrome, lipoid proteinosis, Angelman’s syndrome, and Rett syndrome. Guides to localization and lateralization are provided, as well as the main causes of refractory seizures. Characteristic EEG patterns found in epilepsy and sleep disorders are illustrated. Diagnostic clues associated with non-epileptic attack disorders are described. Handles are exemplified for the major sleep-related disorders, such as sleep–wake transition disorder, frontal lobe seizures, night terror, catathrenia, Klein-Levine syndrome, fatal familial insomnia, and sleep paralysis.

Myopathy and Motor Neuron Disorders

This chapter deals with the main varieties of muscular dystrophy and their differential diagnosis, including dystrophia myotonica, Duchenne muscular dystrophy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, limb girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy and oculopharyngeal muscular dystrophy. Diagnostic clues are given for the main neuromuscular junction disorders, including myasthenia gravis and Lambert-Eaton myasthenic syndrome. Inflammatory and dysthyroid myopathies are evaluated. Also appraised are periodic paralysis, McArdle’s syndrome, mitochondrial, distal, and medication-induced myopathy. The characteristic features of amyotrophic lateral sclerosis and its mimics are debated as well as various forms of bulbar palsy. Hereditary spastic paraplegia and its variants are also included in the chapter.

Demyelination

This chapter describes various clues to the diagnosis of multiple sclerosis based on the history, physical examination and investigation. Some of these clues include Uhtoff’s phenomenon, Lhermitte’s sign, McArdles sign, useless hand syndrome, paroxysmal attacks, sphincter disturbances, optic neuritis, nystagmus, family history, and isolated dysgeusia. Physical examination includes assessment of eye movements, color desaturation, Babinski sign, and Kestenbaum’s sign. Disorders that may be confused with multiple sclerosis, such as CLIPPERS syndrome, hemophagocytic lymphohistiocytosis, primary central nervous system lymphoma; tumefactive multiple sclerosis, and progressive multifocal leukoencephalopathy are also discussed.

Dementia

This chapter emphasizes the value of preliminary observations in making a provisional diagnosis of dementia. Significant aspects of the history are detailed, such as head injury or brain hemorrhage that could lead to hydrocephalus or superficial siderosis. Diagnostic clues are given that facilitate identification of the posterior cortical variant of Alzheimer’s disease, characterized by progressive decline in visuospatial, visuoperceptual, literacy, and praxic skills. Emphasized is the importance of temporal pattern of disease, manifesting as episodic confusion and dementia progressing over a period of months. Further clues are outlined to facilitate identification of frontotemporal dementia variants, including semantic dementia, the behavioral variant, progressive nonfluent aphasia, and logopenic aphasia. The value of physical examination is stressed as it may disclose an underlying structural lesion.

Cerebellar Ataxia

This chapter deals with disorders of the cerebellum and its connections. These conditions may be identified by the mode of onset—whether acute, subacute, chronic, or episodic. The chronic ataxias are inherited in various patterns: autosomal dominant; autosomal recessive; X-linked. Autosomal dominant inherited ataxias discussed include spinocerebellar ataxia, autosomal dominant episodic ataxia, and glucose transporter type I deficiency syndrome. Some episodic ataxias have variable inheritance. Other episodic ataxias without a clear genetic basis are detailed including mitochondrial spinocerebellar ataxia and epilepsy; coenzyme Q deficiency; progressive cerebellar ataxia with palatal tremor; and progressive cerebellar gait ataxia, myoclonic epilepsy, and intention tremor. Also various disorders associated with ataxia are enumerated.

Peripheral Neuropathy

This chapter divides discussion of peripheral neuropathy into sections on mononeuropathy, radiculopathy, and polyneuropathy. Disorders of major peripheral nerves are highlighted— median, ulnar, radial sciatic, and femoral nerves—and how their associated dysfunction may be identified speedily. Carpal tunnel syndrome and unilateral hip flexor weakness are discussed in this section, together with mononeuritis multiplex. Radiculopathy affecting the upper and lower limbs is detailed. Polyneuropathy is subdivided according to pattern of onset; accompanying pain; axonal or demyelinating; length- or non-length dependent; inherited or acquired; presence of nerve thickening; occurrence of tremor; skin, hair, or nail changes; deafness; ophthalmoplegia; anosmia; ageusia; and cataract.

Headache

This chapter enumerates features that are reassuring and do not point to serious disease, such as carotid artery tenderness, slow evolution of symptoms as in hemisensory or hemiparetic migraine, sensory or motor symptoms on the same side as the headache, and age of symptom onset. Several Red Flags are given that indicate the need for investigation, such as first or worst headache, cough headache, morning headache, coital headache, thunderclap headache, continuous headache in an elderly person, medication overuse headache, and CADASIL syndrome. Clues for cluster headache, orthostatic headache, idiopathic intracranial hypertension, and several other headache syndromes are mentioned. Also listed are a few specific headaches that respond to indomethacin.

Limbs and Trunk

This chapter emphasizes various clues apparent from the patient’s history and physical examination. Observation of how a patient walks, talks, and undresses is discussed as a means of discerning clues to a diagnosis. Miscellaneous aspects of the history, particularly sensory symptoms, such as tingling in the hands, feet, and face, shooting leg pains, and neuropathy are described, and clues to psychogenic disorder are elaborated. Also emphasized is the value of inspecting the limbs, skin, and joints. Shortcuts are listed for the traditional physical motor examination, which involves tone, power, coordination, muscle stretch reflexes, and Babinski response. Shortcuts are also described for the sensory examination, using joint position sense, vibration sense, and sensory loss. The chapter concludes with an outline of how to analyze coma.