IBB 2022: patient diagnosis

The author's favourite part of the test

Introduction

Patient diagnosis accounts for 25% of your total in the International Brain Bee—yet it is the easiest part to score marks in. Whereas the other sections assess arcane information about the brainstem and spinal cord, the diagnoses here are fairly simple and direct. The author personally scored 100% in this section, as opposed to 67% in the written quiz and 45% in anatomy/histology.

In the test, you will have five minutes for each of the eight cases. In each case, there will be a two-minute video of the patient, a brief textual account of their problems and a menu for you to select diagnostic tests. You can only conduct THREE tests on each patient. Scoring will exclusively be based on the veracity of your diagnosis, not the validity of your tests.

Case 1

Situation: A male in his mid-twenties presents with anxiety. From his account, he had a perfectly normal childhood with a healthy social life. Yet—after things started ‘going wrong’—he experienced increasing levels of social withdrawal and self-sabotage. He now suffers from intermittent headaches, irritability, paranoia, hallucinations, anorexia and insomnia.

Commentary: Psychiatric disorders are often the most difficult to diagnose due to the lack of an obvious biological marker. You should carry out a blood test to exclude other possibilities.

Examination: Cocaine was found in his blood.

Diagnosis: Cocaine addiction

Case 2

Situation: A 34-year-old female presents with coordination problems. For about three years, she has suffered from arm weakness, visual problems and cognitive decline. Despite her recurrent fatigue, she knits to train her fine motor control.

Commentary: Her symptoms are in line with multiple sclerosis (MS), an autoimmune disorder most common in women aged 20 to 40. Curiously, none of Charcot’s triad—nystagmus, intention tremor and staccato speech—were directly mentioned, highlighting the importance of diagnostic tests in forming your conclusion.

Examination: Lesions are present in her brain and spinal cord. Upon electrophoresis, her CSF shows oligoclonal bands.

Diagnosis: Multiple sclerosis (MS)

Case 3

Situation: Following a traumatic incident, a 16-year-old girl has completely lost sensation in her lower limbs. She is unable to breathe on her own and frequently experiences arm weakness. She also often complains of tightness in her shoulders and neck.

Commentary: The complete paralysis of her legs indicates an injury above the level of her crural spinal cord (L3–S1). Her acute respiratory failure is a consequence of partial diaphragmatic paralysis, caused by the damage to her phrenic nerve arising from spinal roots C3–C5. Our suspicion of cervical spinal cord injury is confirmed by her symptom of hand weakness, which derives from trauma to the brachial spinal cord (C5–T1).

Examination: MRI confirms an injury to her spinal cord.

Diagnosis: Cervical spinal cord injury

Case 4

Situation: A teenager presents with a sudden headache which has developed over the course of a day. After complaints of feeling ‘sick’ and ‘drunk’, he returned home early accompanied by his friends. After a few hours, a rash emerged—his friends pressed a glass against it but it did not fade. Upon enquiry, he was unable to provide even his own name.

Commentary: The result of the ‘glass test’ hints at meningitis, a condition which can kill within hours. The swift onset and flu-like symptoms should prompt you to order a blood test or lumbar puncture to further investigate.

Examination: Meningococci are found in his blood culture. No abnormalities are found in his MRI scan.

Diagnosis: Meningococcal meningitis

Case 5

Situation: A patient presents with nystagmus, ataxia and concentration problems. He suffers from vitamin B deficiency.

Commentary: Nystagmus, ataxia and altered mental status are the hallmarks of Wernicke–Korsakoff syndrome (WKS), a disorder caused by vitamin B1 (thiamine) deficiency. You should already be able to identify the disease, but—as diagnostic tests are available—why not substantiate your guess?

Examination: The patient states he has a history of alcohol abuse. An MRI scan shows his third ventricle is dilated.

Diagnosis: Korsakoff syndrome

Case 6

Situation: A 32-year-old male presents with anxiety, depression and confusion. Over the past few months—according to his wife—he has shown a rapid decline in memory and become reluctant to speak. She cries in despair after knowing there is no cure for her husband.

Commentary: The symptoms of confusion, memory loss and akinetic mutism all point towards Creutzfeldt–Jakob disease (CJD), a condition marked by rapid mental deterioration. There is no known cure—more than half of the patients die within a few months.

Examination: A lumbar puncture shows an elevated level of 14-3-3 protein and a positive RT-QuIC assay result. Abnormalities have also been found in his MRI scan.

Diagnosis: Sporadic Creutzfeldt–Jakob disease (sCJD)

Case 7

Situation: A child presents with frequent, involuntary movements. Owing to his sudden spasming and swearing in class, he is often bullied by his classmates.

Commentary: Tics—motor and vocal—are characteristic of Tourette’s. The involuntary utterance of obscene words, as seen in this patient, is known as coprolalia.

Examination: MRI and EEG have shown no abnormalities.

Diagnosis: Tourette syndrome

Case 8

Situation: An elderly patient presents with severe hand tremors which began ten years ago. He also suffers from ataxia, speech problems and poor depth perception. While he exercises regularly, he can only move slowly in small steps.

Commentary: This is clearly Parkinson’s disease (PD).

Examination: Upon DNA analysis, the patient is discovered to have a mutated parkin gene. fMRI has also detected low dopaminergic activity in the striatum.

Diagnosis: Parkinson’s disease