Case Presentation: Fever and Abdominal Pain in an 8-Year-Old Female
An 8-year-old female, Meherunisha Molla, presents with a 7-day history of low-grade fever, yellowish discoloration of eyes and urine, and abdominal pain. Past history includes a previous fever episode, and no significant family history. Initial examination reveals a palpable liver with normal splenic examination. Differential diagnosis includes hepatitis, autoimmune liver disease, and metabolic disorders like Wilson's disease. Investigations sent include complete blood count, liver and renal function tests, and serology for various infections. Initial lab results show abnormal liver function with high serum bilirubin levels. The child is being managed conservatively with further investigations pending.
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Presentation Transcript
Case presentation by Dr. A.Akhila, PGT, CNMCH
NAME : MEHERUNISHA MOLLA AGE : 8 YRS SEX: FEMALE D.O.A : 15/2/20 COMPLAINT : - 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 medication Pain abdomen was insidious in onset dull aching, on right upper part of abdomen Associated with decrease in appetite. No history of, vomiting, pruritis,bleeding episodes, increased paleness, reddish urine, pale coloured stool. No history of rash, joint pains No history of drug intake, travel
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.
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 50thpercentile) 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
Differential Diagnosis Hepatitis Autoimmune liver disease Metabolic - wilson
Child managed conservatively Investigations sent: Complete blood count with Peripheral smear. Liver function tests Renal function tests Hepatitis A,B,C,E serology HIV 1,2 PT, APTT, INR MPDA, WIDAL, DENGUE IgM, SCRUB TYPHUS IgM Other hepatotropicviruses could not be tested
Investigations Complete blood count Hb-10 gm/dl, TLc-8000/cumm, Platelet-2.6 lakh/cumm normocytic normochromic Renal function test Na 140 meq/lt K 4.2meq/lt Urea 20mg/dl Creatinine 0.4mg/dl Ca 1.3meq/lt MPDA Negative Widal - Negative Scrub typhus IgM Negative Dengue IgM - Negative .
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- 2.4gm/dl PT, APTT, INR- 16sec,31sec,1.2 GGT 64 U/L , S.Glucose- 116mg/dl Hbsag, HIV, AntiHCV- Non reactive Hep A IgM Non reactive Hep E IgM Non reactive
Course of stay On 4th day post admission, child had sudden high grade fever and recurrent vomiting Blood pressure low ,pulse feeble,extremities-cold Patient 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/cumm Na 137meq/lt ,K-3.8meq/lt LFT- 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, 1.2 However there was no disorientation and alteration in sleep pattern and child recovered subsequently Blood and urine cultures sent negative.
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
Slit lamp examination Early KF ring 24 hr urinary copper test- 53.5 mcg/24hrs(<40) Direct coombs test negative Genetic 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- 5mg/dl)
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 .
MODIFIED CALICUT SCORE FEATURES POINTS CONSANGUINITY 2 SIBLING DEATH DUE TO LIVER DISEASE 2 LOW CERULOPLASMIN 3 LOW CERULOPLASMIN & HIGH SGPT IN SIBLINGS AND PARENTS 3 KF RING 3 HIGH URINE COPPER 3 SUNFLOWER CATARACT 4 TOTAL 20 SCORE <3 WILSON DISEASE UNLIKELY SCORE 4-8 WILSON DISEASE PROBABLE, REVALUATED SCORE >8 WILSON DISEASE DEFINITE
DISCUSSION Wilson disease Hepatolenticular degeneration Autosomal recessive disorder Liver disease, degenerative changes in brain, KF rings in cornea Incidence 1:30,000 births worldwide Prompt 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 children After the age of 20 years neurological symptoms are the most common manifestation
When to suspect??? Unexplained acute or chronic liver disease Neurological symptoms of unexplained etiology Acute hemolysis Psychiatric illness Behavioural changes Fanconi syndrome Unexplained bone or muscle disease
Treatment DIETARY - avoid copper rich foods like chocolates,nuts,liver,shellfish PHARMACOLOGICAL- copper chelating agents like- D-pencillamine, trientene, ammonium tetrathiomolybdate and zinc Vit B6 adjuvant to D- Pencillamine LIVER TRANSPLANTATION acute liver failure or decompensated cirrhosis.
PROGNOSIS variable Depends on time of initiation and individual response to chelation Usually significant clinical improvement is seen within weeks of starting treatment . Generally symptoms subside first, followed by disappearance or fading of KF ring
Take home message Always suspect metabolic and autoimmune liver disease when it s presentation like viral hepatitis Always screen family members / siblings in case of wilson disease Counselling 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)
