It ‘s not too viral always: Diagnostic dilemma of Jaundice - PowerPoint Presentation

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It ‘s not too viral always: Diagnostic dilemma of Jaundice

Case presentation by

Dr.

A.Akhila

, PGT, CNMCH

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NAME : MEHERUNISHA MOLLAAGE : 8 YRS

SEX: FEMALE

D.O.A : 15/2/20COMPLAINT : - fever - 7 days - yellowish discolouration of eyes and urine – 6 days - pain abdomen - 7 days . Fever- low grade intermittent fever for last 7 days which relieved on medicationPain abdomen was insidious in onset dull aching, on right upper part of abdomenAssociated with decrease in appetite.No history of, vomiting, pruritis,bleeding episodes, increased paleness, reddish urine, pale coloured stool.No history of rash, joint painsNo history of drug intake, travel

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Past history : fever – 6 weeks back, lasted for

1

week which subsided on taking medication.No h/o jaundice, blood tranfusion , bleeding manifestations, hospital admissions or trauma in the past.No h/o similar complaint in the family.Girl was born by non consanguinous marriage.

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Emergency Touchdown

Alert , conscious and cooperative

Facies-Normal.Vitals- Pulse rate- 80/min Respiratory rate- 16/min Blood pressure – 100/60mmHg( target BP- 98/58 mmHg) Temperature- afebrile. Spo2-98% in room air. Icterus

+

Anthropometry-Ht-

125

cm ,wt-

22

kg, BMI- 14.08 (wt & ht between 25 and 50

th percentile)Systemic examination: per abdomen – liver palpable

4-5 cm below right costal margin, non tender, moving with respiration, firm consistency with upper border of liver dullness at 5 th intercostal space with liver span – 14

cm No splenomegaly.Other symptoms - normal

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Differential Diagnosis

Hepatitis

Autoimmune liver diseaseMetabolic - wilson

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Child managed conservatively Investigations sent:

Complete blood count with Peripheral smear.

Liver function tests Renal function tests Hepatitis A,B,C,E serologyHIV 1,2PT, APTT, INRMPDA, WIDAL, DENGUE IgM, SCRUB TYPHUS IgMOther hepatotropic viruses could not be tested

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Investigations

Complete blood count

– Hb-10 gm/dl, TLc-8000/cumm, Platelet-2.6 lakh/cumm normocytic normochromic Renal function test

MPDA – Negative

Widal

- Negative

Scrub typhus

IgM

– NegativeDengue IgM - Negative

Na –

140 meq

/ltK – 4.2meq/lt

Urea – 20mg/dlCreatinine

– 0.4mg/dlCa – 1.3

meq/lt

.

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Liver function –

total serum bilirubin- 15.6 mg/dl Conjugated- 7.84 mg/dl Liver enzymes- SGOT-1973U/L, SGPT-908U/L Alkaline phosphatase- 260U/L Total protein- 6.8gm/dl

Albumin-

4.4gm

/dl

Globulin-

2.4

gm/dl PT, APTT, INR-

16sec,31sec,1.2 GGT – 64 U/L , S.Glucose

- 116mg/dlHbsag, HIV, AntiHCV- Non reactiveHep A IgM – Non reactive

Hep E IgM – Non reactive

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Course of stay

On 4

th day post admission, child had sudden high grade fever and recurrent vomiting Blood pressure low ,pulse –feeble,extremities-coldPatient was shifted to PICU.Treated with IVF , vit K inj, multivitamin inj with ionotrope support.Antibiotics were upgraded.So we thought could be Hepatic encephalopathy Repeat Investigations- CBC- Hb – 9.8gm/dl, Tlc

-

10,000

/dl,

plt

-

2,40,000/cummNa – 137meq/

lt ,K-3.8meq/ltLFT- Tsb-

12.8mg/dl, conjugated –5.2mg/dl, alkaline phosphatase- 178u/l, SGOT- 800U/L, SGPT- 907U/L PT,APTT, INR.-

14 sec, 38 sec, 1.2However there was no disorientation and alteration in sleep pattern and child recovered subsequently

Blood and urine cultures – sent – negative.

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We thought of –Autoimmune hepatitis.

Wilson Disease

Investigations sent-Serum ceruloplasmin and ANA panel with Anti –LKM, Sm Antibody.ANA, anti LKM,Sm antibody- negative S. CERULOPLASMIN- 10.9 mg/dl (normal>20) WILSON DISEASE

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Slit lamp examination – Early KF ring

24

hr urinary copper test- 53.5 mcg/24hrs(<40)Direct coombs test – negativeGenetic study for ATP7B gene mutation report pending.Liver biopsy could not be done .Siblings were also tested for ceruloplasmin level in blood, which showed that younger sister – low value and brother with normal

value.Both

siblings did not have KF Ring on slit lamp examination. (Sibling has got s.ceruloplasmin-

5

mg/dl)

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Management

Diet as per protocol advised

Child was started on D-pencillamine therapy 250mg initially with once a dosing and later to twice daily .She was also given pyridoxine (vit B6)She was kept under regular follow up.Follow up slit lamp examination revealed no KF ring after 2 months.Patient never developed any neuro –psychiatric features during entire course of treatment.Child was referred to hepatology department in SSKM for further work up and management .

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MODIFIED CALICUT SCORE

FEATURES

POINTSCONSANGUINITY2SIBLING DEATH DUE TO LIVER DISEASE2LOW CERULOPLASMIN3LOW CERULOPLASMIN & HIGH SGPT IN SIBLINGS AND PARENTS3

KF RING

3

HIGH URINE COPPER

3

SUNFLOWER CATARACT

4

TOTAL

20 SCORE <3 WILSON DISEASE UNLIKELY

SCORE 4-8 WILSON DISEASE PROBABLE, REVALUATEDSCORE >8 WILSON DISEASE DEFINITE

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DISCUSSION

Wilson disease –

Hepatolenticular degenerationAutosomal recessive disorderLiver disease, degenerative changes in brain, KF rings in corneaIncidence 1:30,000 births worldwidePrompt diagnostic evaluation for Wilson disease in all patients above 5 yrs presenting with any form of liver disease. Liver disease is the most common presentation in childrenAfter the age of 20 years neurological symptoms are the most common manifestation

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When to suspect???

Unexplained acute or chronic liver disease

Neurological symptoms of unexplained etiologyAcute hemolysisPsychiatric illnessBehavioural changesFanconi syndromeUnexplained bone or muscle disease

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Treatment

DIETARY - avoid copper rich foods like

chocolates,nuts,liver,shellfishPHARMACOLOGICAL- copper chelating agents like- D-pencillamine, trientene, ammonium tetrathiomolybdate and zinc Vit B6 adjuvant to D- PencillamineLIVER TRANSPLANTATION – acute liver failure or decompensated cirrhosis.

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PROGNOSIS

variable

Depends on time of initiation and individual response to chelationUsually significant clinical improvement is seen within weeks of starting treatment .Generally symptoms subside first, followed by disappearance or fading of KF ring

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Take home message

Always suspect metabolic and autoimmune liver disease when it’s presentation like

viral hepatitisAlways screen family members / siblings in case of wilson diseaseCounselling of parents regarding long term prognosis of disease is important to make the patient party aware of complications of toxicity of drug (as sudden stoppage of therapy leads to fulminant liver disease)

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Thank you