حالات سريرية Clinical Cases
Neurological bladder المثانة العصبية
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INSTRUCTION
This patient is suspected to have difficulty in micturition accompanying paraparesis. Would you like to ask him a few questions'?
SALIENT FEATURES
Proceed as follows:Ask the patient the following questions:· Do you get a sensation when the bladder is full'?· Do you feel the urine passing'?· Are you able to stop urine passing in midstream at your own will'?· Does the bladder leak continually'?· Do you suddenly pass large volumes'?· Is there any difficulty in defaecation?· ls there any numbness in the perineal region'?Tell the examiner that in a male patient you would like to take a history of impo-tence and examine the neurological system andspine.
DIAGNOSIS
This patient has a spastic bladder (lesion) accompanying his paraparesis which occurred as a result of trauma (aetiology) andrequires an indwelling urinary catheter (functional status).
ADVANCED-LEVEL QUESTIONS
What are the types of neurogenic bladder?
Spinal or spastic bladderThe bladder is small and spastic and holds less than 250 ml. It is seen in lesions of the spinal cord secondary to trauma, multiplesclerosis, and spinal cord tumour (upper motor neuron lesion). Bladder fullness is not appreciated and the bladder tends to emptyreflexly and suddenly - the automatic bladder. Evacuation may be incomplete unless the bladder is massaged by pressure in thesuprapubic region.The autonomous bladderThis resultsfrom damage to the cauda equine, i.e. lower motor neuron lesion. The patient is incontinent with continualdribbling and there is no sensation of bladder fullness. Despite the dribbling there is considerable residual urine. There is loss ofperineal sensation and sexual dysfunction. (ln conus medullaris-cauda equine lesions, it is possible to have a flaccid lower motorneuron detrusor with a spastic sphincter. The reverse may also occur.)The sensory bladderThis is similar to autonomous bladder and is seen in tabes dorsalis, subacute combined degeneration of the cord and multiplesclerosis. There is loss of aware-ness of bladder fullness with a loss of spinal reflex. This results in retention of large quantities ofurine, incontinence with dribbling, and a high volume of residual urine which can be voided by considerable straining.The uninhibited bladderThis occurs with lesions affecting the second gyrus of the frontal lobe, e.g. frontal lobe tumours, parasagittal meningiomas,aneurysms of the anterior communicating arteries and dementia. Patients have urgency despite low bladder volumes and havesudden uncontrolled evacuation. There is no residual urine. When there is deterior-ation of the intellect, the patient may pass urineat any time without concern.
What do you know about the neurological control of the bladder?
* Micturition follows activation of the parasympathetic pathways to the detrusor muscle and inhibition of the somatic input to theexternal urethral sphincter. The parasympathetic reflex is based in the S3 roots and S3 segments of the cord.· The sympathetic system promotes urinary storage by increasing urethral resistance and depressing detrusor contractions. Thesympathetic supply descends into the pelvis from the hypogastric reflex.· A cortical representation of the bladder is present in the paracentral lobule, stimulation of which may evoke bladdercontractions. It may play a part in initiating voluntary contractions and in stopping micturition by initiating contrac-tion of theexternal sphincter.
What investigations are performed to evaluate bladder function?
Cystometry, sphincter electromyography, urofowmetry with measurement and recording of urinary flow, urethral pressure profiles,and electrophysiological tests of bladder wall innervation.
What are the different types of urinary incontinence?
Urinary continence is dependent on a compliant reservoir (the bladder) and sphinc-teric efficiency which relies on its twocomponents: the involuntary smooth muscle of the bladder neck and the voluntary skeletal muscle of the external sphincter. Urinaryincontinence occurs when urine leaks involuntarily and is of five types:· Total incontinence: the patient loses urine at all times and in all positions. It occurs when the sphincter is damaged (by surgery,cancerous infiltration and nerve damage) or when there is a fistula between the urinary tract and the skin, or ectopic ureters.· Stress incontinence: occurs when there is an increase in intra-abdominal pressure (on coughing, sneezing, lifting, exercising). Itis seen in patients with a lax pelvic floor (e.g. multiparous women, patients who have undergone pelvic surgery). Patients donot lose urine in the supine position.· Urge incontinence: loss of urine preceded by a strong, unexpected urge to void urine. It occurs with inflammation or neurogenicdisorders.· Overflow incontinence occurs in chronic urinary retention from a chronically distended bladder.· Enuresis: a form of involuntary nocturnal incontinence. It is usually seen in children.
Multiple system atrophy الحثل الجهازي العديد (الضمور الجهازي العديد)
INSTRUCTION
Perform a neurological examination on this patient.
SALIENT FEATURES
History
· Dizziness when standing up (due to postural hypotension).· Dysphagia.· Ataxia.· Symptoms of Parkinson's disease .· hnpotence, bladder disturbances .· Anhidrosis.
Examination
· Mask-like facies and other features of bradykinesia.· Increased tone (rigidity).· Cerebellar signs.
Proceed as follows:
Tell the examiner that you would like to look for:· Postural hypotension, the hallmark of this condition (due to autonomic failure).· Signs of autonomic dysfunction (pupillary asymmetry, Homer's syndrome).
DIAGNOSIS
This patient has cerebellar and Parkinson's signs (lesion) due to multiple system atrophy, a degenerative disorder (aetiology), andhas marked disability including incontinence (functional status).
ADVANCED-LEVEL QUESTIONS
What are the types of multisystem atrophy?
· Striatonigral degeneration: clinical picture resembles Parkinson's disease but without tremor. These patients do not respond toanti-Parkinson medications and often develop adverse reactions to these agents.· Shy-Drager syndrome: clinical picture consists of Parkinson's disease combined with severe autonomic neuropathy (particularlypostural hypotension). Other important clinical features are impotence and bladder disturbances.· Olivopontocerebellar atrophy: combination of extrapyramidal manifestations and cerebellar ataxia. Patients may also haveautonomic neuropathy and anterior horn cell degeneration.· Parkinsonism and motor neuron disease: rare.
What is the pathology in Shy-Orager syndrome?
In 1960, Shy and Drager described changes in the brainstem and ganglia; sub-sequently, loss of neurons has been shown in theautonomic nervous system and in the cells of the intermediolateral column of the spinal cord. Positron emission tomo-graphy showsdecreased uptake of dopamine in the putamen and caudate lobe.
What factors can lower blood pressure in these patients?
Standing up (orthostatic hypotension, a hallmark of this condition), food and exercise.Food and exercise can produce hypotensioneven in the supine position (JNeurol1990; 237(suppl 1): S24; JAm Coil Cardiol 1993; 21: 97A).
What is the morbidity of this condition?
It tends to disable most patients severely by the end of 5-7 years.
How would you treat these patients?
Treatment is symptomatic and supportive for hypotension and neurological deficits. Symptoms of postural hypotension may beameliorated by antigravity stockings and fluorohydrocortisone.G.M. Shy (1919-1967), a US neurologist who obtained his MRCP in London in 1947.G.A. Drager (1917-1967), a US neurologist.Bradbury and Eggleston in 1925 first described the combination of postural hypotension, incontinence, impotence and abnormality ofsweating (anhidrosis). Neurological manifestations develop later.Christopher J. Mathias, FRCP, DSc, contemporary Professor of Medicine, St Mary's Hospital Medical School and National Hospital,Queen Square, London, whose chief interest is the autonomic control of the cardiovascular system.
Epilepsy الصرع
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INSTRUCTION
This patient is suspected to have seizures; ask her a few questions. The eye-witness (usually the spouse) of the suspected event isnext to the patient and you may ask him or her any relevant questions.
SALIENT FEATURES
Proceed as follows:· Ask the patient about aura, whether she bit her tongue, whether she was incon-tinent during the attack, any hallucinations (ddjavu phenomenon). Ask the patient about triggering factors (including television, disco strobes, hypo-glycaemia and alcoholingestion) and whether they are recurrent. Take a family history (about 30% of patients with epilepsy have a history of seizuresin relatives) and past history of head injury.· Confirm this by asking the eye-witness for a description of the seizures (note whether they were tonic-clonic), frothing at themouth, whether the patient was unconscious or incontinent, how long the whole 'episode' lasted and how long she wasunconscious after the attack, and whether there was any weakness after the attack (Todd's paralysis).
DIAGNOSIS
This patient has recent-onset generalized tonic-clonic epilepsy (lesion) which could be due to an intracranial tumour (aetiology). Thepatient will have to give up her job as a truck-driver as a consequence of this (functional status).
QUESTIONS
How would you investigate the patient?
· Full blood count, urea and electrolytes, blood glucose, liver function tests.· Chest radiography.· EEG.· CT scan.· Magnetic resonance imaging and telemetry.
Mention some metabolic abnormalities found in these patients.
Hypoglycaemia, hyponatraemia (e.g. syndrome of inappropriate antidiuretic hormone secretion, SIADH), hypocalcaemia, hepaticfailure, uraemia.
How would you classify seizures?
· Generalized seizures: generalized tonic-clonic seizures, petit mai and atypical absences, myoclonus, akinetic seizures. Petitmal describes only 3 Hz seizures, rather than clinically similar absence attacks which are partial seizures.· Partial or focal seizures (a partial seizure is epileptic activity confined to one area of cortex with a recognizable clinical pattern):simple partial seizures (no impair-ment of consciousness), complex partial seizures, partial seizures evolving to tonic-clonic.
ADVANCED-LEVEL QUESTIONS
What is jacksonian epilepsy?
It is a simple partial seizure which usually originates in one portion of the prefrontal motor cortex so that fits begin in one part of thebody (e.g. thumb) and then proceed to involve that side of the body and then the whole body. It suggests a space-occupying lesion.
What is rodd's paralysis?
Paresis of a limb or hemiplegia occurring after an epileptic attack, which may last up to 3 days.
How would you manage epilepsy?
· General advice: Avoid ladders, heights, unsupervised swimming and cycling for 2 years from the last episode.· Antiepileptic drugs: The first line drugs for epilepsy monotherapy remain carbamazepine and sodium valproate; phenytoin isnow less used, and although lamotrigine has a monotherapy licence its place has still to be defined. Several new 'add-on drugs'have been licensed in recent years including vigabatrin, gabapentin, lamotrigine, and topiramate. An overview of trials inpatients with refractory partial seizures suggests no major differences between these agents in either efficacy or tolerability(BMJ 1996; 313: 1169-74). Prolonged use of vigabatrin can result in severe visual field defects, prompting the development ofguidelines for monitoring vision (BMJ 1998; 317: 1322).· Vagal stimulation remains an experimental approach in seizure control (J Clin Neurophysiol 1997; 14: 358-68).· Advice about driving: In the UK, those who have had more than one seizure are unable to hold a driving licence unless theyhave been free from any form ofepileptic attack whilst awake for a period of one year before the issue of a licence; in the case of attacks whilst asleep, these attacksmust have occurred only during sleep over a period of 3 years and no awake attacks before the issue of a licence. Drivers of heavygoods vehicles and public service vehicles must have been free of epileptic attacks for at least the last 10 years and must not havetaken anticonvulsant medications during this 10-year period.
What do you understand by the term 'status epilepticus'?
It is a medical emergency in which seizures follow each other without recovery of consciousness.
What is the prognosis in epilepsy?
· Most individuals with newly diagnosed epilepsy enter prolonged remission from seizures and have an excellent prognosis, butseizures remain refractory in 20 30%.· Up to 75% of patients with refractory partial epilepsy show evidence of abnormalities on magnetic resonance imaging (J NeurolNeurosurg Psych 1995; 59:384 7), some of which are amenable to surgery.· Population based studies show that patients with epilepsy have an increased risk of sudden death compared with age and sexmatched controls (J Neurol Neurosurg Psych 1995; 58: 4624). Some of these deaths are related to epilepsy itself, for exampleas a consequence of accidents, but others are unexplained. This has been termed 'SUDEP' (sudden unexpected death inepilepsy) and is more common in refractory epilepsy (about 1 in 200 patients per year). Many of these deaths may be related tounwitnessed seizures, possibly associated with respir-atory arrest, cardiac arrest or neurologically mediated pulmonaryoedema; there-fore a proportion of these deaths can potentially be prevented by better control of seizures.Robert B. Todd (1809-1860), FRS, an Irish physician, graduated from Pembroke College, Oxford, and was Professor of Physiologyat King's College, London (J Neurol Neurosurg Psychiatry 1994; 57: 359). He was founder of King's College Hospital.J. Hughlings Jackson (1835-1911), an English neurologist, worked at the National Hospital, Queen Square, London.
Guillain-Barre syndrome متلازة غيلان باريه
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INSTRUCTION
Examine this patient's lower limbs, in which weakness began distally.
SALIENT FEATURES
History
· Weakness: difficulty in rising up from sitting position or climbing stairs; legs usually affected before upper limbs.· Dyspnoea late in the course, suggesting diaphragmatic and intercostal muscle weakness.· Cranial nerve involvement: diplopia, drooling of saliva, regurgitation of food.· Paraesthesias.· Urinary symptoms.· Systemic symptoms: fatigue.· Ascertain whether the (inset was preceded by a trivial viral illness.
Examination
· Weakness of distal limb muscles.· Distal numbness.· Arefiexia.
Proceed as follows:
Tell the examiner that you would like to:· Assess respiratory function (forced vital capacity).· Check blood pressure (for labile blood pressure).
DIAGNOSIS
This patient has Guillain-Barrd syndrome (lesion) and is currently experiencing weakness of the distal limb muscles (functionalstatus).
QUESTIONS
What is the pathology?
It is a demyelinating neuropathy.
ADVANCED-LEVEL QUESTIONS
How is the diagnosis confirmed?
· Nerve conduction studies demonstrate slowing of conduction or conduction block.· CSF shows albumino-cytological dissociation, i.e. cell count is normal but the protein concentration is frequently raised.
What is Miller-Fisher syndrome?
A rare proximal variant of Guillain-Barre syndrome which initially affects the ocular muscles and in which ataxia is prominent.
What is the differential diagnosis?
Poliomyelitis, botulis ,primary muscle disease or other neuropathy (porphyric, diphtheric, heavy metal or organophosphoruspoisoning).
How would you treat such patients?
· High-dose intravenous y-globulin during the acute phase to reduce the severity and duration of symptoms (N Eng! J Med 1992;326:1123-9). This is equivalent to plasma exchange in reducing disability, but the combination of intravenous immunoglobulinand plasma exchange offers no significant additional advantage (Dmcet 1997; 349: 225-30).· Ventilatory support if respiratory muscles are affected.· Physiotherapy and occupational therapy for muscle weakness..
Torsion dystonia (dystonia musculorum deformans) خلل التوتر المسبب للوي (خلل التوتر المشوه)
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INSTRUCTION
Look at this patient.
SALIENT FEATURES
History
· Perinatal anoxia, birth trauma or kernicterus.· Family history.· Drug history (neuroleptics).· The age of onset of clinical features (abnormal movements are usually present before the age of 5 years in birth anoxia).
Examination
· Dystonic movements of head and neck.· Torticollis.· Blepharospasm.· Facial grimacing.· Forced opening or closing of the mouth.· Limbs may adopt abnormal but characteristic postures.
DIAGNOSIS
This patient has torsion dystonia (lesion) which may be due to birth anoxia (aetiology), and is confined to a wheelchair because ofthe disability (functional status).
QUESTIONS
What do you understand by the term 'dystonia'?
It implies a movement caused by a prolonged muscular contraction when a part of the body is thrown into spasm.
ADVANCED-LEVEL QUESTION5
What is the inheritance of idiopathic torsion dystonia?
Idiopathic torsion dystonia can occur sporadically, or on a hereditary basis with autosomal dominant (where the gene is onchromosome 9q), X-linked recessive orfamilies. There is a normal birth and developmental history in idiopathic torsion dystonia.
What are the other causes of dystonia?
· Birth anoxia (abnormal movements develop before the age of 5 years; often associated with a history of seizures and mentaldisability).· Wilson's disease, Huntington's disease or parkinsonism.· Drugs.
How would you treat such patients?
· Drugs: patients respond poorly to drugs. Occasionally helpful medications include diazepam, levodopa, amantadine,carbamazepine, tetrabenazine, phenothiazines and haloperidol.· Stereotactic thalamotomy may be useful in predominantly unilateral dystonia.