Case Presentation: Corticobasal Degeneration (CBD)
Prepared by Dr Ooi Seok Ling
Supervised by Dr Ungku Ahmad Ameen bin Ungku Mohd. Zam
Location of study: Hospital Tengku Ampuan Rahimah
Patient History
A72- year old right- handed man presented with progressive slowness to walk over the past 1 year. He described it as feeling stiff and unstable with a history of fall and worsening until bed bound. He denied any significant limb tremors, but his family noted that recently in the last 6 months, he had tongue tremor with drooling of saliva and difficulty to swallow for the past 1 month.
Cognitive impairment was noted including word-finding difficulty and occasionally difficult to follow conversations.
Past Medical History
Hypertension, well-controlled with medication.
No history of stroke, head trauma, or other neurological disorders.
Progress
He was started on madopar but developed drowsiness while symptoms did not improve.
Functional status
bADL: Self-feeding, toileting and clothing need assistance for the past 2 months.
iADL: Last ride motorcycle 2 months ago, subsequently unable to due to slowness.
Medications given by daughter
Cognition: Signs of apraxia with inability to perform learned motor tasks despite adequate comprehension. Mild language deficit particularly expressive aphasia.
Mood: No low mood.
Behavior: No hallucination or delusion.
Incontinence: None- bowel motions remained regular.
Social/family history
Previously he stayed in Taiping and moved to Shah Alam to stay with only daughter 10 years ago
Used to work as a fisherman, stopped at age 50
Lack of social interaction since moving to Shah Alam
Lives with wife, daughter and son-in-law in a single-storey house
Examination
Mask-like facies, bradykinesia, soft speech
No pill- rolling tremor, jaw or tongue tremor
BP sitting: 115/75
BP standing 1 min: 94/66
BP standing 3 min: 102/73
HR 82
Motor: Rigidity in bilateral upper and lower limbs. No significant tremor.
Sensory: Normal
Other Findings: Mild postural instability with a history of falls.
Spastic gait pattern and decreased arm swing on the left side.
ECAQ 4/10 (memory 2/3, orientation 2/6, recall 0/1)
MMSE: 13/30 (orientation 4/10, registration 3/3, attention 0/5, recall 0/3, language 6/9)
Investigations
Blood investigation
TSH 1.10, T4 17.8 (normal)
Hba1c 4.9
TC 4.11, TG 1.19, LDL 2.47, HDL 1.1
Hb 14.8, WCC 5.6, Plt 188
Urea 9.4, Creat 106, Na 139, K 4.6, Ca 2.39, Mg 0.94, Phosphate 0.98
TP 59, Alb 25, ALP 84, TB 10, AST 32, ALT 35
AFP 1.3 IU/ml, CA125 17.6 U/mL, CA-19.9 32U/mL, CEA 1.9 ug/L, PSA 0.82 ug/L,
beta hCG 2.7 U/L (normal range)
VDRL negative
CT Scan: Cerebral atrophy and small vessel disease.
MRI Brain: Basal cistern, ventricles and sulci are prominent in keeping with
generalised cerebral atrophy. Bilateral periventricular hyperintensities in keeping with small vessels white matter ischemia noted. Few small old lacunar infarction at bilateral cerebral regions seen. No focal intracranial haemorrhage or acute infarction. No hydrocephalus or cerebral edema. No midline shift or mass effect. There are bilateral basal ganglia atrophy noted. It is associated with minimal Virchow-Robin’s spaces within. There is also mild atrophy of corpus callosum noted. Suspicious of mild midbrain atrophy also seen. No focal lesion cerebellar region noted.
Impression: Generalised cerebral atrophy with bilateral periventricular small
vessels white matter ischemia. Multiple small old cerebral lacunar infarction.
Suspicious of corticobasal degeneration.
Diagnosis
Corticobasal Degeneration (CBD), a rare neurodegenerative disorder characterized by progressive asymmetric motor and cognitive dysfunction, likely due to tauopathy.
Learning Points and Questions
What is the recommended duration for observing a patient after a trial of Madopar before scheduling a follow-up? If the drug is ineffective, when should alternative diagnoses be considered?
What are the key clinical manifestations of CBD, and how do they differ from other atypical parkinsonian syndromes (e.g., Progressive Supranuclear Palsy or Multiple System Atrophy)?
What imaging and laboratory studies are most useful in supporting a diagnosis of CBD?
How should discussions about the ceiling of care and end-of-life consideration be integrated throughout the patient's treatment journey?
What are the emerging therapeutic strategies targeting the tau protein in CBD?
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