Color Atlas of Neurology

Spinal injuries

Central Nervous System

273

Central Nervous System

Chronic stage—late sequelae. Persistence of

274neurological deficits; assorted complications including venous thrombosis, pulmonary embolism, respiratory insufficiency, bowel obstruc-

tion, urinary tract infections, sexual dysfunction, cardiovascular disturbances, spasticity, chronic pain, bed sores, heterotopic ossification, and syringomyelia.

Central Nervous System

275

Central Nervous System

276

Cerebellar Diseases

Dysdiadochokinesis

Finger-finger test

(intention tremor)

Gait ataxia with “tandem” gait

Dysmetria (hypermetria)

Postural test for position sense

Test for gaze-evoked nystagmus

Rebound phenomenon

Saccades; gaze-evoked and rebound nystagmus

Central Nervous System

277

Central Nervous System

278

Cerebellar Diseases

Acquired Cerebellar Syndromes

Hartnup syndrome, maple syrup urine disease)

! Storage diseases (metachromatic leukodystrophy, neuronal ceroid lipofuscinosis, sialidosis, GM2 gangliosidosis)

1 Partial listing; numerous infections can cause ataxia as part of the syndrome of encephalomyelitis. 2 Highfrequency bursts of saccades in all directions of gaze without an intersaccadic interval. 3 See p. 254 ff; cerebellar astrocytoma, medulloblastoma, ependymoma, hemangioblastoma (von Hippel–Lindau disease), meningioma of the cerebellopontine angle, metastases (lung cancer, breast cancer, melanoma). 4 Antibodies (p. 388) against Hu, Yo, TR, CV2, Ma1, CRD1, CRD2, Ma2, and mGluR1. 5 Genetic; listed here for differential diagnostic purposes.

Cerebellar Diseases

Drug-induced cerebellar syndromes

Lesion of Hyperthermia-related cerebellar cortex cerebellar dysfunction

Vascular cerebellar lesion

Cerebellar atrophy

Central Nervous System

279

Central Nervous System

280

Cerebellar Diseases

Hereditary Cerebellar Syndromes

" Autosomal Recessive Cerebellar Syndromes (partial listing)

! Increased risk of malignant tumors ! Elevated serum α-fetoprotein

1 Chromosome location (CL). 2 Classic form. 3 Bassen–Kornzweig syndrome; vitamin A and E deficiency, low cholesterol/ triglyceride levels, acanthocytosis. 4 Louis-Bar syndrome. 5 Oculomotor apraxia. 6 DNA repair kinase/cell cycle control; ataxia-telangiectasia-mutated (ATM) gene. 7 A direct gene test is available.

For mitochondrial syndromes with ataxia, see p. 403.

" Autosomal Dominant Cerebellar Syndromes (partial listing)

1 Definitive identification of the SCA types listed is possible only with molecular genetics tests (examples in right column, see OMIM for details). 2 Machado–Joseph disease (MJD). 3 Other forms: EA3 and EA4. 4 Other mutations of this gene are associated with SCA6 and familial hemiplegic migraine. 5 A direct genetic test is available.

Cardiomyopathy in FA

(ECG shows repolarization disturbances and left axis deviation)

Scoliosis in FA

Ataxia due to lesion of posterior and anterior

spinocerebellar tracts

Spinal degeneration in FA

Friedreich ataxia (FA)

Pes cavus/clawfoot

Central Nervous System

281

Myelopathies

The clinical differential diagnosis of myelopathies is based on the level of the spinal cord lesion, the particular structures affected, and the temporal course of the disorder (p. 48, Table 39, p. 381).

Acute Myelopathies

Symptoms and signs develop within minutes, hours, or days.

cysticercosis, schistosomiasis), fungi, neurosyphilis, sarcoidosis, postinfectious myelitis, multiple sclerosis/neuromyelitis optica (Devic syndrome), acute necrotizing myelitis, connective tissue disease (vasculitis), paraneoplastic myelitis, subacute myelo-optic neuropathy (SMON), arachnoiditis (after surgical procedures, myelography, or intrathecal drug administration).

! Vascular Syndromes (p. 22)

Anterior spinal artery syndrome. Segmental paresthesia and pain radiating in a bandlike distribution may precede the development of motor signs by minutes to hours. A flaccid paraparesis or quadriparesis (corticospinal tract, anterior horn) then ensues, along with a dissociated sensory loss from the level of the lesion downward (spinothalamic tract impaired pain and temperature sensation, with intact perception of vibration and position) and urinary and fecal incontinence. Often only some of these signs are present.

Posterior spinal artery syndrome is rare and difficult to diagnose. It is characterized by pain in

282the spine, paresthesiae in the legs, a loss of position and vibration sense below the level of the

lesion, and global anesthesia with segmental

loss of deep tendon reflexes at the level of the lesion. Larger lesions cause paresis and sphincter dysfunction.

Sulcocommissural artery syndrome. Segmental pain at the level of the lesion, followed by flaccid paresis of ipsilateral arm/leg; loss of proprioception, position sense, and touch perception with contralateral dissociated sensory loss (Brown– Séquard syndrome). Sphincter dysfunction is rare.

Complete spinal infarction. Acute spinal cord transection syndrome with flaccid paraplegia or quadriplegia, sphincter dysfunction, and total sensory loss below the level of the lesion. Autonomic dysfunction may also occur (e. g., vasodilatation, pulmonary edema, intestinal atony, disordered thermoregulation). The cause is often an acute occlusion of the great radicular artery (of Adamkiewicz).

Central spinal infarction. Acute paraplegia, sensory loss, and sphincter paralysis.

Claudication of spinal cord. Physical exercise (running, long walks) induces paresthesiae or paraparesis that resolves with rest and does not occur when the patient is lying down.

Cause: Exercise-related ischemia of the spinal cord due to a dural arteriovenous fistula or highgrade aortic stenosis (see also p. 284).

Dural/perimedullary arteriovenous (AV) fistula is an abnormal communication (shunt) between an artery and vein between the two layers of the dural mater. An arterial branch of a spinal artery feeds directly into a superficial spinal vein, which therefore contains arterial rather than venous blood, flowing in the opposite direction to normal. Paroxysmal stabbing pain and/or episodes of slowly progressing paraparesis and sensory loss separated by periods of remission occur in the early stage of the disorder, which usually affects men between the ages of 40 and 60. If the suspected diagnosis cannot be confirmed by MRI scans (because of low shunt volume), myelography may be helpful ( dilated veins in the subarachnoid space).

Spinal hemorrhage can occur in epidural, subdural, subarachnoid, and intramedullary locations (intramedullary hemorrhage = hematomyelia). Possible causes: intradural/intramedullary AV malformation, cavernoma, tumor, aneurysm, trauma, lumbar puncture, and coagulopathy.