DIAGNOSTIC UNCERTAINITY OF A SUSPECTED CASE OF HEPATOLENTICULAR DEGENERATION (WILSON'S DISEASE)

A 17 year old male Patient resident of village near nalgonda student by occupation came to the hospital with the chief compliants of

1) YELLOWISH DISCOLORATION OF URINE SINCE 45 DAYS

2) YELLOWISH DISCOLORATION OF EYES SINCE 30 DAYS

 Patient was apparently asymptomatic 45 days back then he developed yellowish discoloration of urine which is insidious in onset and progressed to deep yellow colour and brownish red colour.

(He collected urine in a transparent plastic glass and he dropped rice grains and waited for some time and observed the colour change of rice grains to yellow.)

 

He developed yellowish discoloration of eyes which was initially identified by his mother, insidious in onset, progressive in nature.

Then he consulted a local doctor for jaundice and used some ayurvedic medication for one week.

Then he went to jangam for natural tree medication, used for 10 days .

Later he went to chityal for blood test in which T.Bilurubin was around 8.

And he was referred to higher center.

Patient has 

H/o easy fatigue

H/o decreased appetite

H/o weight loss

 

No history of fever

No history of blood transfusions

No history of sob on exertion

No history of vomitings

No history of pruritis/itching

No history of pale coloured stools

No history of distension of abdomen.

No history of similar complaints in the past

Personal history

 Diet - normal and adequate

decreased appetite since one month

Bowel and bladder habits are normal

No history of alcohol consumption

No history of smoking

 FAMILY HISTORY

Similar complaints were seen in his younger sister. 

General Examination 

Pt c/c/c

Pallor present

Icterus present.

Cyanosis absent.

Clubbing absent.

Edema absent.

Lymphadenopathy absent

BP 110/70 mmHg

PR 101 bpm

Spo2 95%

RR 19

CVS  S1S2 +

CNS  NAD 

R/S  BAE+ NVBS 

P/A 

NO VISIBLE PULSATIONS

ABDOMEN SOFT NON TENDER

NO DISTENSION 

Mild HEPATOMEGALY

NO SPLENOMEGALY

Lab investigations

 

MICROCYTIC HYPOCHROMIC ANEMIA

URINARY BILIRUBIN CRYSTALS SEEN and 

RBC 10-12

URINE SAMPLE

LFT 

LFT showing HEPATOCELLULAR PATTERN OF HYPERBILIRUBINEMA

In which enzymes SGOT AND SGOT were elevated ruling out PREHEPATIC and POST HEPATIC causes of jaundice.

 

So for further evaluation of HEPATOCELLULAR PATTERN OF JAUNDICE, 

We did some more investigations  found some interesting findings.

SLIT LAMP EXAMINATION DONE  FOR ANY 

KF -RINGS,    unfortunately it gave some positive findings.

Early stage of KAYSER FLEISCHER RING, noticed in the cornea

So, the above history, clinical examination and laboratory findings can give us some clue regarding Wilson's disease. 

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735277/

FURTHER PLAN 

1) SERUM CERULOPLASMIN LEVELS

2) ESTIMATION OF URINARY COPPER LEVELS

3) LIVER BIOPSY (which may not be able to done in our setup)

 

Other routine investigations., 

AR inherited disorder of impaired copper excretion characterized by excessive deposition of copper in many tissues and organs, principally the liver, brain, and eye. • Discovered by Samuel Alexander kinnier Wilson. Liver fails to excrete sufficient Cu via the bile, and the ability to incorporate Cu into CP is diminished Due to loss of function mutations of the ATP7B gene on chromosome 13, which encodes a copper-transporting ATPase (ATP7B). Most common presentations are with liver disease or neuro- psychiatric disturbances. Kayser–Fleischer ring is the clinical hallmark of WD. caused by deposition of copper in Desçemet’s membrane of cornea. Penicillamine is the of choice.