Gradually progressive tremor of the right hand in a 39 yrs old man

CME INDIA Case Presentation by Dr. Pankaj Singh, MBBS DNB ( medicine) CCEBDM, Basti, (Uttar Pradesh).

CME INDIA Case Study

First See this Video:

• A 39 year-old-man presented with insidious onset of gradually progressive tremor of the right hand of 1 year in duration.
• Tremulousness of right upper limb started one and half years back.
• Past History: Patient was diagnosed c/o Budd Chiari syndrome in 2018 at Mumbai.
• Family History: Brother died 2 years back due to CLD and neurological features.
• There was no history of substance abuse.
• Wing beating tremor (Rt>Lt) was gradually progressive in nature.
• Postural tremor was also noted. No Cerebellar features. Motor tone was normal.
• Eye Exam: KF ring, confirmed by ophthalmologist and at a tertiary centre.

*

Serum Ceruloplasmin Test was ordered

Comment By Dr. Anil Kumar, Consultant Neuropsychiatrist, Ranchi:

• Classical case of Wilson’s disease
• Wilson disease must be differentiated from:
  • Other disorders of copper metabolism,
  • Menkes disease,
  • Occipital horn syndrome,
  • Indian childhood cirrhosis,
  • Ceruloplasmin deficiency,
  • MEDNIK (mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma) syndrome,
  • Huppke-Brendel syndrome,
  • CCS chaperone deficiency.

CME INDIA Learning Points

Ten Commandments in Wilson’s Disease

1. Wide variation in age 
   • Primarily between age 5 and 45.
   • May be as early as age one or until age 70.
2. Characterized by hepatic and extrapyramidal movement disorders (EPS). 
3. Unequivocal proof or an autosomal recessive disorder of the hepatic copper transporter ATP7B needs to be ruled out.
4. Diagnosis
   • The Kayser-Fleischer ring (KFR) is classical ophthalmologic manifestation. (The only other disorder with KF rings is Primary biliary cirrhosis)
   • If you suspect of Wilson disease, order a ceruloplasmin level and Urinary copper level.
   • It will be less than 20 mg/dL (normal 20 mg/dL to 40 mg/dL).
   • Urinary copper levels will be raised more than 100 mcg/dL.
   • Abnormal lab findings with Kayser-Fleischer rings are usually enough for diagnosis.
5. If there is the possibility of an alternate diagnosis, liver biopsy for liver copper levels should be planned (the most accurate test for Wilson disease).
6. Note low levels of ceruloplasmin may be seen in any protein deficiency disorder
7. If there are neurological symptoms, MRI of the brain may show hyperintensities in the basal ganglia in the T2 sequence. MRI may demonstrate the characteristic “face of the giant panda” pattern.
8. It must be appreciated that here is no completely reliable test for Wilson disease. The levels of ceruloplasmin and copper in the blood, as well as copper excreted in urine during a 24-hour period, are used to diagnose. The gold standard is a liver biopsy.
9. First and second-degree relatives need to be screened for Wilson disease.
10. The mainstay therapy for Wilson disease is copper chelation therapy. It is done with penicillamine and trientine. Trientine is preferred. It is because of fewer side effects. Oral zinc also may be given as it competes for absorption with copper at metallic ion transporter. Do educate the patient on the adverse effects of chronic chelation therapy.   and does not pose any risk to the fetus.

CME INDIA Tail Piece

(*Similar)

Kayser–Fleischer (KF) rings

• It was initially thought to be due to the accumulation of silver
• Kayser–Fleischer first demonstrated to contain copper in 1934.
• KF rings are seen in most of the patients with neurologic involvement from Wilson disease.
• These rings are caused by the deposition of excess copper on the inner surface of the cornea in the Descemet membrane.
• A slit lamp examination is mandatory to make a diagnosis of KF rings particularly in the early stages KF Rings disappear with treatment and reappear with disease progression.

References:

1. Hermann W. Classification and differential diagnosis of Wilson’s disease. Ann Transl Med. 2019 Apr;7(Suppl 2):S63. doi: 10.21037/atm.2019.02.07. PMID: 31179300; PMCID: PMC6531651.
2. Stremmel W, Niederau C, Strohmeyer G. Genetisch determinierte Lebererkrankungen, Teil II: Morbus Wilson. DIA-GM 1990;10:953.
3. Hedera P. Wilson’s disease: A master of disguise. Parkinsonism Relat Disord. 2019 Feb;59:140-145
4. Manoj S, Hari Kumar KVS. Wing Beating Tremor and Double Panda Sign. Mov Disord Clin Pract. 2015 Feb 2;2(1):47-48. doi: 10.1002/mdc3.12134. PMID: 30713877; PMCID: PMC6353510.
5. Joshi G, Dhingra D, Tekchandani U, Kaushik S. Kayser-Fleischer ring in Wilson’s disease. QJM. 2019 Aug 01;112(8):629.

Discover CME INDIA:





• Explore CME INDIA Repository
• Examine CME INDIA Case Study
• Read History Today in Medicine
• Register for Future CMEs

Get CME INDIA Highlights

Curated articles in your inbox.

SUBSCRIBE!

You have Successfully Subscribed!