Topic: Fragile X Syndrome
Subject: Medicine
You are asked to see a mentally challenged 45-yearold male from a nearby group home who has groin pain. On examination you notice that he has large ears, a prominent jaw, and large symmetric testicles.
These findings are consistent with:
A variant form of Down syndrome
Aspergers syndrome
Klinefelters syndrome
Fragile X syndrome
Correct Answer :
D. Fragile X syndrome
Fragile X syndrome accounts for more cases of mental retardation in males than any other genetic disorder except Down syndrome; about one in 4000- 6000 males is affected. Down syndrome, Klinefelters syndrome, and homocystinuria do not present with the described findings. Aspergers syndrome is a variant of autism in people of normal to high intelligence. Patients with Klinefelters syndrome usually have small testicles.
Related Questions
Topic: Huntington disease
Subject: Medicine
A 42-year-old white male is brought to your department by his wife because of the progressive loss of his mental abilities, irritability, and some irregular involuntary movements of his hands. She says that she can remember when they were newlyweds, her husbands father had a similar condition at the age of 45 and he died few years later because there was not much doctors could do for him back then. She wants to know if their children may eventually develop a similar condition in the future. None in her family has ever had this type of condition. Which of the following would be the most appropriate answer?
Only their male children are at risk
If one child develops the disease, siblings are not at risk
All their children will inherit the disease
Each child has 50% risk of inheriting the disease
Topic: Brain Death
Subject: Medicine
A 35 year old man has been on life support systems for the past 48 hours following blunt head trauma. Which of the following is the most important criterion to declare the patient brain dead and to permit removal of life support systems?
Bedside EEG showing no electrical activity
Decorticate and decerebrate posturing
Failure to respond to electroconvulsive stimuli
Glasgow coma score of 3 or less
Topic: Foot Drop
Subject: Medicine
During the physical exam of a patients foot, you notice an inability to dorsiflex. What nerve root(s) is most likely affected?
T12
L1
L2
L4 - L5
Topic: Essential Tremor
Subject: Medicine
A 75 year old white male complains of a tremor which has been progressive over the past 2 years. The tremor interferes with writing, pouring liquids, and eating soup. He has no other medical problems. He abstains from alcohol and tobacco products. Physical examination is remarkable for an action tremor of the upper extremities and a head tremor. No rigidity or gait disorder is noted. Of the following agents, which one is most appropriate as initial drug therapy for this problem?
Alprazolam (Xanax)
Clonazepam (Klonopin)
Carbamazepine (Tegretol)
Propranolol (Inderal)
Topic: Delirium Tremens
Subject: Medicine
You see a 49-year-old man in the emergency room with a 20-year-history of alcohol abuse. He is agitated and floridly psychotic, with visual hallucinations and persecutory delusions. On examination his blood pressure, heart rate and respiratory rate are all increased. He is disoriented, sweaty, and has abdominal cramps.
What is the most likely diagnosis?
Subdural hematoma
Alcohol intoxication
Hepatic encephalopathy
Delirium tremens
Topic: Amnesia
Subject: Medicine
Which of the following medications may cause amnesia as a side effect?
Hydroxyzine
Fluoxetine
Triazolam
Clonidine
Topic: Heatstroke
Subject: Medicine
A 72-year-old male is brought to your office by a friend because of increasing confusion, irritability, and difficulty walking. This began shortly after the patients car broke down and he had to walk a mile to get to a phone and call the friend. The temperature outdoors has been near 39.5°C (100°F).
On examination you note a rectal temperature of 39.5°C (103.1°F). His pulse rate is 110 beats/min and his blood pressure is 100/60 mm Hg.
Which one of this patients findings indicates that he has heatstroke rather than heat exhaustion?
Confusion
Sweating
His temperature
His heart rate
Topic: Diagnostic Investigations
Subject: Medicine
A 52 year old male with a history of psychosis presents with muscle stiffness and resting tremors, associated with difficulty in balance and initiating movements. What is the best diagnostic method for detection of the above condition?
Serum dopamine levels
Computed tomography scan
Positron emission tomography scan
Magnetic resonance imaging
Topic: Seizure
Subject: Medicine
A 52-year-old male with a history of seizure attacks suffered from loss of consciousness and tonic-clonic muscular contractions. His tongue fell back into his throat and he choked.
What is the medication of choice for the treatment of this patient's condition?
Phenytoin
Valproic acid
Tiagabine
Phenobarbital
Topic: Alzheimer's Disease
Subject: Medicine
A 62 year old woman has demonstrated increasing loss of recent memory over a 5 year period, now associated with reduced affect and nominal dysphasia. She dresses neatly and social amenities are preserved. There are no localizing motor or sensory findings.
Which one of the following is the most likely diagnosis?
Cerebral vascular disease
Hydrocephalus
Huntington's disease
Alzheimer's disease
Topic: Trigeminal Neuralgia
Subject: Medicine
A man complains that recently when he shaves he has a shooting type of pain in his face. It happens once in a while and then goes away. You suspect trigeminal neuralgia.
What is the treatment of choice?
Fluoxetine
Prednisone
Acyclovir
Carbamazepine
Topic: Glasgow Coma Scale
Subject: Medicine
A 27 year old man is brought into the ER after a bicycling accident. A car door suddenly opened in front of him, of which he smashed into and was thrown 15 feet. On examination, he is drowsy and confused. He opens his eyes when his name is called. When he speaks, you understand his words but the sentences do not make sense. He moves all four limbs but does not respond to any commands. He is able to pull both hands away when pinched and squirms when his sternum is rubbed, making no effort to stop you.
What is his Glasgow Coma Scale score?
11
10
9
8
Topic: Dementia
Subject: Medicine
All of the following dementias can benefit from specific treatments, except:
Normal pressure hydrocephalus (NPH)
Alzheimers disease
Sarcoidosis
Creutzfeldt Jakob disease
Topic: Seizure
Subject: Medicine
A 52-year-old male with a history of seizure attacks suffered from loss of consciousness and tonic and clonic muscular contractions. His tongue fell back into the throat and he choked. What is the most likely diagnosis of this presentation?
Petit mal seizure
Grand mal seizure
Myoclonic seizure
Atonic seizure
Topic: Intracranial Hemorrhage
Subject: Medicine
The most significant risk factor for spontaneous intracerebral hemorrhage is:
Atrial fibrillation
Cigarette smoking
Excessive alcohol use
Hypertension
Topic: Diagnostic Investigations
Subject: Medicine
A 50-year-old male is brought to the emergency department because of a syncopal episode. Prior to the episode, he felt bad for 30 minutes, then developed nausea followed by vomiting. During a second bout of vomiting he blacked out and fell to the floor. His wife did not observe any seizure activity, and he was unconscious only for a few seconds. His history is otherwise negative, his past medical history is unremarkable, and he currently takes no medications. A physical examination is normal.
Which one of the following would be the most helpful next step?
CT of the head
Carotid ultrasonography
A CBC and complete metabolic profile
An EKG
Topic: Mini Mental Status Exam (or MMSE)
Subject: Medicine
In healthy adults, performance on the Folstein Mini-Mental State Examination is affected by which one of the following?
Educational attainment
Socioeconomic status
Gender
Race
Topic: Guillain-Barr� syndrome
Subject: Medicine
Guillain-Barr� syndrome is not associated with which of the following?
Proximal muscle weakness
Areflexia
Infection with C. jejuni
Treatment with corticosteroids
Topic: Subarachnoid Hemorrhage
Subject: Medicine
A 36-year-old female presents with the sudden onset of severe headache, nausea, and photophobia. Her level of consciousness is progressively diminishing. Which one of the following would be the most appropriate next step?
Head CT without contrast
Head CT with contrast
Head MRI
Lumbar puncture
Topic: Peripheral Neuropathy
Subject: Medicine
A 68-year-old male presents to your department complaining of a very horrible sensation in his legs that started out 4 weeks ago as pins and needles tickling him but now has progressed and feels like being stabbed in his feet. He has started to use a walker because he feels that when he walks it feels like stepping on eggshells. The pain has not been responsive to acetaminophen and ibuprofen. The patients past medical history is significant for diabetes type II treated with metformin and glimepiride. The patient has not been very compliant with medications, especially metformin because he feels it causes him an upset stomach. His most recent HbA1C level was 9.8%. He also has hypercholesterolemia treated with lovastatin and hypertension treated with Lisinopril and amlodipine. His vital signs are temperature 37.4°C, BP is 125/70 mmHg, pulse 85/min, and respirations 15/min. The dorsalis pedis and posterior tibial pulses are +2 bilaterally. No distal muscles weakness or atrophy is observed. Manual esthesiometer with monofilaments is used and reveals decreased sensation from the midfoot distally on both feet. There is no evidence of erythema, edema, or any wounds on either foot. He has tenderness to light touch on both feet. Labs reveal normal Vitamin B12 and thyroid function.
Which of the following would be the most appropriate treatment for this patients pain?
Daily metformin compliance
Metoclopramide
Pregabalin
Alpha lipoic acid
Topic: Horner's Syndrome
Subject: Medicine
A 70-year-old man presented with ptosis, myosis and anhydrosis on the left side. Which one of the following is the most likely cause of this condition?
Tumour induced exophthalmos
Fourth cranial nerve palsy
Apical pulmonary carcinoma
Enlarged thyroid gland
Topic: Brain Death
Subject: Medicine
A 57-year-old white male with coronary artery disease suffered a cardiac arrest while jogging 10 days ago. He was resuscitated after 45 minutes but has remained unresponsive and on a ventilator since then.
Which one of the following is required to diagnose brain death in this patient?
Hypothermia
Continuous mechanical ventilation
The absence of spontaneous body movements
Electroencephalographic confirmation
Topic: Alzheimer's Disease
Subject: Medicine
Which one of the following has NOT been identified as a risk factor for Alzheimer-type dementia (AD)?
Trisomy 18
Head trauma
Advanced age
Obesity and hypertension
Topic: Seizure
Subject: Medicine
A patient is on carbamazepine for his new onset seizures. He has now had 3 attacks in last 2 weeks. His serum level of carbamazepine is within the therapeutic range.
What is the next step in management?
Repeat CT scan and EEG
Add another agent (eg. Phenytoin)
Re-check carbamazepine level in 2 weeks
Check CBC, CMP and TSH/FT4
Topic: Osmotic Demyelination
Subject: Medicine
Osmotic demyelination can result when which one of the following is corrected too rapidly?
Hypocalcemia
Hypoglycemia
Hypomagnesemia
Hyponatremia
Topic: Dementia
Subject: Medicine
Clinical features of multi-infarct dementia may include all of the following, except:
Parkinsonism
Deteriorating course
Evidence of cerebrovascular disease
Focal neurologic signs
Topic: Tension headache.
Subject: Medicine
A woman presents with chief complaint of tightening, band-like headaches that usually occur upon rising in the morning. What is the most likely diagnosis?
Migraine headache
Premenstrual headache
Tension headache
Cluster headache
Topic: Trigeminal Neuralgia
Subject: Medicine
A 55-year-old man complains of extremely severe, sharp, shooting pain in his face. He describes the episodes as being like a bolt of electricity that are brought about by touching a specific area, last about 60 seconds, and occur many times during the day. Neurologic examination is completely normal, but it is noted that part of his face is unshaven because he fears to touch that area. Gadoliniumenhanced MRI shows no abnormalities of the trigeminal nerve.
Which of the following is the most appropriate initial treatment?
Anticonvulsants
Aspirin
Nonsteroidal anti-inflammatory drugs
Vasoconstrictors
Topic: Alzheimer's Disease
Subject: Medicine
Which one of the following tests is most useful for the initial workup of suspected Alzheimers disease?
Carotid Doppler ultrasonography
An erythrocyte sedimentation rate
A cardiac stress test
A TSH level
Topic: Alzheimer's Disease
Subject: Medicine
An 84-year-old black female is brought to your office by her daughter, who is concerned that the mother has memory problems and is neglecting to pay her monthly bills. The mother also is forgetting appointments and asks the same questions repeatedly. This problem has been steadily worsening over the last 1-2 years. The patient has very little insight into her problems, scores 24 out of a possible 30 points on the Mini-Mental State Examination, and has difficulty with short-term recall and visuospatial tasks. Her physical examination and a thorough laboratory workup are normal. A CT scan of the brain reveals diffuse atrophy. Which one of the following is the most likely etiology for the patients memory problem?
Alzheimers disease
Dementia resulting from depression
Lewy body dementia
Multi-infarct dementia