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Neurology

The incidence of Down syndrome in children born to women aged less than 30 years is approximately Available marks are shown in brackets 1) 2) 3) 4) 5) 1:500 1:1000 1:5000 1:10000 1:15000 [0] [100] [0] [0] [0]

Comments: The exact figure is 1 in 1200 births. Maternal age also affects incidence of hydrocephalus, anencephaly and achondroplasia.

A broad-based ataxic gait occurs characteristically with: Available marks are shown in brackets 1) 2) 3) 4) 5) proximal myopathy basal ganglia lesion right-sided cerebral infarction phenytoin toxicity cerebellar vermis lesion [0] [0] [0] [100] [0]

Comments: Broad based gait is associated with cerebellar syndrome. However, lesions of cerebellar vermis cause truncal ataxia and tendency to fall backwards. Right-sided cerebral infarction is associated with a hemiplegic gait. Basal ganglia disease causes extrapyramidal signs with parkinsonism (festinant gait, marche a petit pas). Proximal myopathy causes a waddling gait. A 3 day old neonate is noted by ward staff to have had a seizure. Which of the following statements concerning neonatal convulsions is correct? Available marks are shown in brackets 1 ) An abnormal EEG indicates a high risk of later developing epilepsy A blood glucose level of 1.7mmol/L in a term infant on Day 1 is invariably associated with 2) convulsions or apnoea. Convulsions occurring in the first 24 hours in a baby with an Apgar score of 8 at 5 minutes 3) cannot be due to intrapartum asphyxia. If phenobarbitone is prescribed daily estimations of serum bilirubin are needed because of 4) risks of kernicterus. 5 ) Maternal narcotic addiction is a well-recognised cause. [0] [0] [0] [0] [100]

Comments: Maternal narcotic addiction is associated with a neonatal drug withdrawal syndrome. Convulsions occurring in the first 24 hours may be the result of placental insufficiency and cerebral palsy. Hypoglycaemia may be associated with seizures, but not invariably. Hepatitis and jaundice are rare side effects , CNS depression is more common with phenobarbitone. An abnormal EEG does not correlate with later risk of epilepsy.

An 18-year-old female presented with bilateral ptosis and tiredness towards afternoons. She had a short tensilon (edrophonium test which was positive). A diagnosis of myasthenia Gravis was made and she was stated on pyridostigmine. She now relapses and is given edrophonium intravenously. However her condition deteriorates and her forced expiratory volume falls to 1.0. She is transferred to the high dependency units. An initial CT scan and chest x-ray were normal. What should be the next management step? Available marks are shown in brackets 1) 2) 3) 4) 5) Azathioprine Emergency thymectomy Intravenous methylprednisolone Neostigmine Plasmaphoresis [0] [0] [0] [0] [100]

Comments: The diagnosis is Myasthenia crisis. The treatment of choice is either iv immunoglobulins or plasma exchange. Transfer to ITU is essential because patients may deteriorate rapidly needing intubation and ventilation. A 15 year old boy presents with tremor of both hands. Over the previous months he has developed a mild dysarthria. He has a history of behavioural problems, of a depressive/psychotic nature. The most likely diagnosis is: Available marks are shown in brackets 1) 2) 3) 4) 5) Alzheimer's disease Huntington's disease Neuroacanthocytosis variant Creutzfeldt-Jakob disease Wilson's disease [0] [0] [0] [0] [100]

Comments: Wilson's disease is a rare disorder of copper metabolism which is inherited as an autosomal recessive disease. It is associated with extrapyramidal features (tremor, parkinsonism, dystonia), dysarthria, psychiatric features, cirrhosis and a deposit of brownish-green pigment around the margin of the cornea (Kayser-Fleischer ring).Variant Creutzfeldt-Jakob disease is characterised by myooclonus and rapid onset dementia. A newborn is diagnosed with an intracranial haemorrhage. Which of the following is typically associated with this diagnosis? Available marks are shown in brackets 1) 2) 3) 4) 5) Prematurity. Infants of diabetic mothers. Congenital toxoplasmosis. Haemophilia. Hyaline membrane disease. [100] [0] [0] [0] [0]

Comments: Prematurity is associated with intraventricular haemorrhages and is thought ot be a consequence of vessel fragility. Intracranial haemorrhage is not usually a presenting feature of Haemophilia. A couple bring their 7 year old daughter to clinic concerned about her development. She has a history of delayed speech, ataxia with a broad based gait and also has been diagnosed with epilepsy. She has a strange affect characterised by inappropriate laughter. Her karyotype is normal. What is the most likel diagnosis in this patient? Available marks are shown in brackets 1) 2) 3) 4) 5) Alice in Wonderland syndrome Angelman syndrome Asperger's syndrome Prader-Willi syndrome Turner's syndrome [0] [100] [0] [0] [0]

Comments:
Angelman syndrome (happy puppet) is caused by a deletion of q12 in the maternal copy of chromosome

15. A similar deletion in the paternal copy of chromosome 15 causes Prader-Willi syndrome (mental retardation and hyperphagia). Asperger's syndrome (autistic psychopathy) is characterized by severe and sustained impairment in social interaction, development of restricted and repetitive patterns of behavior, interests, and activities. The happy behaviour is not a feature. A lesion of the Frontal lobe causes: Available marks are shown in brackets 1) 2) 3) 4) 5) Apraxia Broca's (expressive) aphasia Cortical blindness Homonymous hemianopia Visuospatial neglect [0] [100] [0] [0] [0]

Comments: Lesions of the frontal lobe include difficulties with task sequencing and executive skills. Expressive aphasia (receptive aphasias a temporal lobe lesion), primitive reflexes, perseveration (repeatedly asking the same question or performing the same task), anosmia and changes in personality. Lesions of the parietal lobe include apraxias, neglect, astereognosis (unable to recognise an object by feeling it) and visual field defects (typically homonymous inferior quadrantanopia). They may also cause alcalculia (inability to perform mental arithmetic). Lesions of the temporal lobe cause visual field defects (typically homonymous superior quadrantanopia), Wernike's (receptive) aphasia, auditory agnosia, and memory impairment. Occipital lobe lesions include cortical blindness (blindness due to damage to the visual cortex and may present as Anton syndrome where there is blindness but the patient is unaware or denies blindness), homonymous hemianopia, and visual agnosia (seeing but not percieving objects - it is different to neglect since in agnosia the objects are seen and followed but cannot be named). Stiff neck in a young child may be present in the following conditions except: Available marks are shown in brackets 1) 2) 3) 4) Acute poliomyelitis Retropharyngeal abscess Rubeola Still's disease [0] [0] [100] [0]

5)

Tuberculosis

[0]

Comments: Rubeola (Measles) can lead to many different complications: croup, bronchitis, bronchiolitis, pneumonitis, conjunctivitis, myocarditis, hepatitis, encephalitis. Measles can also make the body more susceptible to ear infections or bacterial pneumonia. The involvement of the cervical spine in the arthritis of Still's disease may cause neck stiffness. TB may cause tuberculous meningitis, or Potts disease, both of which may cause neck stiffness. Retropharyngeal abscess is a recognised cause of neck stiffness with an extended neck. Causes of a small pupil include: Available marks are shown in brackets 1) 2) 3) 4) 5) Carbon Monoxide Poisoning Ethylene Glycol Poisoning Holme's Adie pupil Pontine haemorrhage Third Nerve Palsy [0] [0] [0] [100] [0]

Comments: Causes of small pupils include Horner's syndrome, old age, pontine haemorrhage, Argyll Robertson pupil, drugs and poisons (opiates, organophosphates). Causes of dilated pupils include Holme's Adie (myotonic) pupil, third nerve palsy, drugs and poisons (atropine, CO, ethylene glycol). Which of the following is true regarding sensory neural hearing loss? Available marks are shown in brackets 1) 2) 3) 4) 5) The incidence is twice as high in babies admitted to neonatal intensive care units compared with the normal population. The risk is increased in children who have had rubella. Approximately 1 per 1000 children will have greater than 40db hearing loss. The risk is increased in Noonan's Syndrome. The risk is increased in Down's Syndrome. [0] [0] [100] [0] [0]

Comments: Sensory neural hearing loss is caused by lesions in the cochlea or the auditory nerve or central connections. It may be unilateral or bilateral. Language acquisition and secondary educational difficulties follow, with social isolation, and an increased risk of mental health problems. The approximate incidence is 1 per 1000 children. Risk factors include:

NICU admission: low birth weight, less than 32 weeks gestation, prolonged ventilation, prolonged jaundice, ototoxic drugs, hypoxic ischaemic encephalopathy, neonatal meningitis. Congenital infection (rubella, CMV). Dysmorphic syndromes (affecting head and neck). Family history of a close relative needing a hearing aid below the age of 5 years. Infections: acute bacterial or TB meningitis, mumps (latter usually unilateral).

If all risk factors are considered, only around 50% of cases could be identified by testing between 5 and 10% of all babies. Conductive hearing loss is related to middle ear pathology. This is commoner in Down's Syndrome, cleft palate, Turner's Syndrome, and facial malformation syndromes. Copyright 2002 Dr Colin Melville

A 14 year old girl was found unconscious at the roadside by a passer-by, who called an ambulance. On examination she was unkempt, had slurred speech and an ataxic gait. Her core temperature was 34.5C, but there were no other specific abnormalities to find. BM was 2.9 mmol/l. What is the most likely diagnosis? Available marks are shown in brackets 1) 2) 3) Comments: The picture suggests acute alcohol ingestion. This is often accompanied by hypothermia and hypoglycaemia. It is important to exclude other ingestions and to look for coexisting social problems. Gaucher's Disease is associated with the deficiency of : Available marks are shown in brackets 1) 2) 3) 4) 5) Hexosaminidase A Sphingomyelinase Arylsulphatase-A B- Glucosidase Iduronidase [0] [0] [0] [100] [0] Brain tumour Infections Ingestions [0] [0] [100]

Comments: Hexosaminidase A deficiency is associated Tay-Sachs disease. Sphingomyelinase deficiency is associated with Niemann-Pick disease. Arylsulphatase-A deficiency is associated with metachromic leucodystrophy.Iduronidase deficiency is associated with Hurlers syndrome. A 32 year old scientist presents to Casualty with a right facial weakness. He has recently returned from a conference in the USA. There is no history of systemic illness, but on examination he has mild neck stiffness and a painful right wrist and knee, with a right facial palsy. Investigations were as follows: WCC 7 x 109 /l Hb 12 g/l Plat 190 x 109 /l Clotting normal ESR 32 Na 138 mmol/l K 4.0 mmol/l Urea 6.9 mmol/l Creatinine 76 umol/l Calcium and LFTs normal CXR Normal. CT head Normal. CSF: Protein 1.2g WCC 67 (97% lymphocytes) No organisms seen. What is the most likely diagnosis? Available marks are shown in brackets 1) 2) 3) 4) 5) Behcet's disease HIV associated neuropathy Lyme disease Sarcoidosis Tuberculous meningitis [0] [0] [100] [0] [0]

Comments: All of the answers are possible causes of a facial palsy. The high protein and lymphocytosis of the CSF imply an acute or sub acute infective process. Neurosarcoidosis is thus unlikely. The main clinical

features of Behcets are not present orogenital ulceration, iritis and pathergy. HIV is usually associated with a peripheral sensory neuropathy. TB meningitis is likely to lead to a generalised systemic illness. The fact that the patient has recently been to America and has a unilateral facial palsy makes Lyme disease the most likely diagnosis. Lyme disease is spread by the bite of ticks of the genus Ixodes that are infected with Borrelia burgdorferi. A 17-year-old man has been diagnosed with schizophrenia 4 weeks ago. He was started on haloperidol. Two weeks later he was found confused and drowsy. On examination he was pyrexial (40.7 C), rigid with blood pressure of 200/100. Which of the following treatment will you initiate? Available marks are shown in brackets 1) 2) 3) 4) 5) phenytoin diazepam cefuroxime acyclovir dantrolene [0] [0] [0] [0] [100]

Comments: Neuroleptic malignant syndrome is the most likely diagnosis. Its major features are: rigidity, altered mental state, autonomic dysfunction, fever, and high creatinine kinase. It is usually caused by potent neuroleptics. The treatment of choice is dantrolene and bromocriptine. Withdrawal of neuroleptic treatment is mandatory. Rhabdomyolysis and acute renal failure are potential complications. A 15 year old girl presents with a two week history of headaches and double vision. She had also noticed 2 an episode where her vision dimmed after sneezing. On examination her BMI was 32.4 kg/m , she had bilateral optic disc swelling and a partial left sixth cranial nerve palsy was present. What is the most likely diagnosis? Available marks are shown in brackets 1) 2) 3) 4) 5) benign intracranial hypertension Graves' ophthalmopathy multiple sclerosis pituitary tumour sagittal vein thrombosis [100] [0] [0] [0] [0]

Comments: This patient has the features of benign intracranial hypertension which maybe associated with reduction of vision with manoeuvres that raise intracranial pressure and is associated with sixth nerve palsies. There are no features to suggest Graves' ophthalmopathy nor multiple sclerosis. A pituitary tumour would be likely to produce visual field constriction not mentioned in this history. A sagittal vein thrombosis is a potential differential diagnosis here but is less likely than BIH. BENIGN INTRACRANIAL HYPERTENSION (PSEUDOTUMOUR CEREBRI):

most common in obese women of childbearing age. FEATURES: normal CT/MRI brain, normal CSF apart from increased pressure, headaches (90%), sixth nerve palsy (30%), papilloedema, visual field loss !! DRUGS ASSOCIATED WITH BIH: tetracyclines, o/c pill, excessive vitamin A, glucocorticoids and mineralocorticoids, and amiodarone. TREATMENT: prevention of visual field loss and relief of headache. (ref. Arch Neurol. 1989;46:1049) Causes of dilated pupils include: Available marks are shown in brackets 1) 2) 3) 4) 5) Argyll Robertson pupil Ethylene glycol poisoning Myotonic dystrophy Organophosphate poisoning Pontine haemorrhage [0] [100] [0] [0] [0]

Comments: Causes of dilated pupils include Holme's Adie (myotonic) pupil, third nerve palsy, drugs and poisons (atropine, CO, ethylene glycol). Causes of small pupils include Horner's syndrome, old age, pontine haemorrhage, Argyll Robertson pupil, drugs and poisons (opiates, organophosphates). Which vertebral level and corresponding structure is correct? Available marks are shown in brackets 1) 2) 3) 4) 5) C4 and bifurcation of the carotid artery T2 and manubriosternal joint T10 and opening for vena cava in diaphragm T12 and oesophageal opening in the diaphragm T8 and aortic opening in the diaphragm [100] [0] [0] [0] [0]

Comments: The carotid artery bifurcates at C4. The manubriosternsal joint(angle of Louis) lies at the level of the T4/5 intervertebral disk. The caval opening in the diaphragm lies at T8. The Oesoghageal opening of the diaphragm lies at T10. The aortic opening is at T12. Compartment syndrome:Available marks are shown in brackets 1) 2) 3) 4) 5) Only occurs following fractures. Loss of distal pulse is an early sign. The presence of pain is unhelpful in diagnosis. Can be treated using a minimally invasive technique. Passive stretch of affected muscles exacerbates pain. [0] [0] [0] [0] [100]

Comments: Compartment syndrome can occur in the absence of a fracture e.g. crush injuries. Loss of peripheral pulses is a late sign indicating that the pressure within the compartment has exceeded arterial blood pressure. Pain is the earliest and most reliable symptom of the onset of compartment syndrome. Treatment involves decompression of the affected compartment(s) including the skin. Passive stretch of the muscles traversing the compartment increases pain.

Which visual field defect is most likely to occur with multiple sclerosis? Available marks are shown in brackets 1) 2) 3) 4) 5) bitemporal hemianopia central scotoma homonymous hemianopia increased blind spot tunnel vision [0] [100] [0] [0] [0]

Comments: Central scotoma likely with retrobulbar neuritis and optic atrophy. Tunnel vision occurs in glaucoma, retinitis pigmentosa and retinal panphotocoagulation. Increased blind spot occurs with papilloedema, which may lead to optic atrophy. Optic chiasma compression causes bitemporal heminopia. A 16 year old girl presented with a three week history of headache and horizontal diplopia on far right lateral gaze. On two separate occasions she noted dimmed vision whilst bending forwards. Over the last year she had gained 12 kilograms in weight. On examination, her weight was 95 kg, and height 162cms. Neurological examination revealed bilateral papilloedema and a partial right sixth cranial nerve palsy. What is the most likely diagnosis? Available marks are shown in brackets 1) 2) 3) 4) 5) Benign intracranial hypertension. Multiple sclerosis. Pituitary tumour Superior sagittal vein thrombosis. Thyroid eye disease. [100] [0] [0] [0] [0]

Comments: This patient is markedly obese with a BMI of 36 and the history suggestive of BIH. Vision may be affected with enlargement of the blind spot and the visual obscuration with movements that provoke a rise in ICP (eg bending) is typical of BIH. Dysthyroid eye disease would not present like this and is more commonly associated with Hyperthyroidism. The papilloedema would argue against MS. A bitemporal hemianopia or a visual field defect would be expected with a pituitary tumour. Venous sinus thrombosis is a possibility but would be expected to produce deteriorating symptoms. A 4 year old boy presents with dizziness and vomiting. He has been unwell over the past few days with fever, right ear pain and discharge. Full term normal delivery with no neonatal complications. Immunisations up to date. There is no FH/SH of note. On examination he has a fever of 38.6C, RR 20/min and HR 100/min. Chest is clear. He has a purulent discharge from his right ear. He has nystagmus, and walks with a broad-based gait. What is the most likely diagnosis? Available marks are shown in brackets 1) 2) 3) Comments: The history suggests an acute otitis media with developing ataxia and vomiting. This suggests extension of the infection into the vestibular apparatus. From there it can extend into the brain. IV antibiotics and Brain tumour Infections Ingestions [0] [100] [0]

surgical drainage may be required. A 5 year old girl presents with ataxia. She keeps falling to the left during a ballet lesson. The symptoms persist, and parents take her to casualty. 41/40 gestation 2.9kg, with no neonatal problems. On examination she is alert with temperature of 36.9C (tympanic), RR of 20/min and HR of 95/min. She has obvious nystagmus, dysdiadochokinesis and falls to the left when asked to walk. What is the most likely diagnosis? Available marks are shown in brackets 1) 2) 3) Comments: The history is of subacute cerebellar abnormality in the absence of fever. The most likely diagnosis is a posterior fossa tumour. This can be confirmed by CT or MRI scan. The latter is preferable because the bony posterior fossa interferes with CT images. Brain tumour Infections Ingestions [100] [0] [0]

Cerebellar Mnemonic
What signs and symptoms do you get with cerebellar disease? 'VANISHED' V = Vertigo A = Ataxia N = Nystagmus I = Ipsilateral pendular knee jerk/ Intention tremor S = Skewed deviation of eye H = Hypotonia E = Explosive speech (staccato) D =Dysdiadochokinesis/ dysarthria/ dysmetria

Which of the following statements regarding hiccup is true? Available marks are shown in brackets 1) 2) 3) 4) 5) Is caused by a tonic relaxation of the diaphragm. May be caused by local irritation to the vagus nerve. Can reliably be treated with theophylline. May be caused by a posterior fossa tumour. May be caused by a foreign body in the nose. [0] [0] [0] [100] [0]

Comments: Hiccup is caused by frequent or rhythmic clonic contraction of the diaphragm. When prolonged, other causes should be considered including:

CNS disease: Posterior fossa tumour, brain injury, encephalitis. Phrenic nerve or diaphragm irritation: Tumour, pleurisy, pneumonia, intrathoracic adenopathy, pericarditis, gastro-oesophageal reflux, oesophagitis. Systemic causes: Alcohol intoxication, uraemia. Other: Foreign body or insect in the ear. In infants it may be associated with apnoea or hyperventilation.

Folk remedies include aerophagia, breath holding, pharyngeal stimulation, distraction. Haloperidol, metaclopramide and several anaesthetic agents are also said to work. Which of the following statements regarding Phenylketonuria is correct? Available marks are shown in brackets 1) 2) 3) 4) 5) Serum tyrosine levels are typically low Urinary phenylalanine metabolites are typically high Mental retardation does not occur if the patient adheres to a phenylalanine free diet Is classically due to deficiency of tyrosine hydroxylase Inheritance is X-linked recessive [0] [100] [0] [0] [0]

Comments: Phenylketonuria (PKU) is the result of hyperphenylalaninaemia. It is autosomal recessive, with a prevalence of 1:10-20,000 live births. Phenylalanine is an essential amino acid. Dietary phenylalanine is not utilised for protein synthesis, but is normally degraded via the tyrosine pathway. Failure of this results in other metabolites that cause brain damage. Deficiency of phenylalanine hydroxylase (Chromosome 12) or of the cofactor tetrahydrobiopterin (Genes on Chromosome 10 and 4) causes accumulation of phenylalanine in body fluids. The affected infant is usually normal at birth, and although blood phenylalanine levels may rise as early as 4 hours after birth, mental retardation develops gradually, and may not be apparent for a few months. About 25% if infants have seizures, but over 50% have an abnormal EEG. Microcephaly, prominent maxilla, growth retardation and wide-spaced teeth are found in untreated children. Even with dietary treatment, some degree of cognitive impairment is seen and can vary from gross impairment or changes detected on cognitive tests. Cerebral white matter changes are seen in older patients and may reflect a combination of late diagnosis and dietary indiscretion. Diagnosis of classic PKU requires raised Phe levels, normal plasma tyrosine levels, increased urinary Phe metabolites and normal cofactor (tetrahydrobiopterin) concentrations

An 18 year old man presented with a history of a sudden onset of a frontal headache and photophobia. He had neck stiffness and a temperature of 38C. Which one of the following findings would suggest a diagnosis of subarachnoid haemorrhage rather than bacterial meningitis? Available marks are shown in brackets 1) 2) 3) 4) 5) a blood neutrophil leucocytosis a family history of polycystic renal disease a fluctuating conscious level a history of diabetes mellitus a history of opiate abuse [0] [100] [0] [0] [0]

Comments: Fluctuating level of consiousness can occur in both meningitis and subarachnoid haemorrhage (SAH). Hypertension is a risk factor for SAH, but not diabetes. Opiate abuse does not increase the risk for SAH. Cerebral aneurysm are associated with polystic kidney disease.
An 18 year-old man is referred with a 6 month history of daily headache which is mostly frontal in location and occasionally associated with nausea. He has been taking Paracetamol 3g/day, Aspirin 300 mg tds and Codeine 40mg tds, which has only a temporary effect. He has a 2 year history of depression, treated with Paroxetine. No abnormalities were found on examination. What is the most likely diagnosis? Available marks are shown in brackets 1) 2) 3) 4) 5) Analgesic misuse headache Cerebral tumor Cluster headache Headache due to depression Migraine [100] [0] [0] [0] [0]

Comments: The two commonest causes of chronic daily headache are tension type headache and analgesic misuse headache. The latter is the most likely diagnosis for this patients symptoms. It usually occurs as a result of chronic use of analgesics such as codeine phosphate and paracetamol. Typically the headache is relieved with the analgesics just to return in the next hours. The treatment of choice is the slow reduction and withdrawal of analgesics. A child presents with delayed walking. Which of the following would lead you to suspect a diagnosis of Duchenne muscular dystrophy. Available marks are shown in brackets 1) 2) 3) 4) 5) Calf muscle wasting A history of recurrent falls Poor feeding since birth Urinary incontinence Abnormal nerve conduction studies [0] [100] [0] [0] [0]

Comments:

This form of muscular dystrophy usually manifests in toddlers and early childhood when motor skills are developed such as running and jumping. Pseudohypertrophy of the calf muscles is characteristic. The first symptoms may be delayed walking and frequent falls. Poor feeding is not a feature. Urinary incontinence is associated with spinal cord and upper motor neurone lesions and not with muscular dystrophy. Motor and sensory nerve conduction velocities are normal, but EMG shows myopathic changes.