Early presentation of a rare disorder

Suresh Chelliah*

Department of Pediatrics, Kauvery Hospital, Trichy, Tamilnadu, India

*Correspondence: Email: [email protected]

Background

Autoimmune hepatitis (AIH) is a necroinflammatory liver disease of unknown etiology that occurs in the children of all ages. It was identified in the 1940’s and formerly called chronic active hepatitis. AIH has a wide range of presentation, from asymptomatic individuals with lab abnormalities to cirrhosis, characterized by liver transaminase elevation in the presence of autoantibodies, elevated gamma globulin levels, interface hepatitis on histology and a good response to corticosteroids [1].

Case Presentation

A 3-years-old boy was brought by the mother with c/o blood-stained stools off and on for six months. Mother noticed blood in stools at the end of defaecation. Child was treated for the same with various antibiotics. There was no h/o abdominal pain, tenesmus, jaundice, melaena or haematemesis. Parents were consanguineous married and there was h/o one earlier abortion that was not investigated.

On examination, he was thinly built with weight and height of 10.9 kg and 91 cm, respectively. Pallor was present, no icterus. A firm liver with rounded margin and smooth surface was palpable 4 cm below the costal margin. Spleen was just palpable.

Clinical diagnosis considered at this point was Wilson disease with compensated liver cell function and portal hypertension.

Investigations revealed Hb – 9.7 g/dl, normal WBC and platelet count. Liver function tests showed mildly elevated AST and ALT, 247 and 199, respectively. ALP – 433, GGT – 317, total protein – 8.9, serum albumin – 3.7. Bilirubin, PT was normal. Viral markers were negative. Serum LDH was 1184, Serum Cu was 498 and serum ceruloplasmin was 40.

Slit lamp examination revealed no KF ring.

USG abdomen showed hepatomegaly with smooth surface and no evidence of portal hypertension.

Though uncommon in this age, Autoimmune Hepatitis was considered as there was increased serum transaminases & globulin with no supporting evidence for Wilson disease / Viral hepatitis.

Further investigation revealed a high level of serum IgG – 3330 (700 – 1650).

  1. Immunological workup revealed the following:
    • Antinuclear antibody test was strongly positive.
    • Nuclear compartment strongly positive (+++), nucleus homogeneous.
    • Antibody titre for LKM1 was negative.
  2. Liver biopsy was done with ultrasound guidance was reported as
    • Chronic hepatitis with severe portal mixed inflammation with interface hepatitis, ductular reaction and mild increase in copper/copper associated proteins.
    • Autoimmune/overlap syndrome
    • Large duct obstruction cholangiopathy
    • Drug induced
    • Other chronic cholestatic disorder
    • Fibrosis stage – portal fibrous expansion with bridging fibrosis (ISHAK fibrosis stage – 3/6).

Discussion

Autoimmune hepatitis is a rare disorder that affects females four times as often as males. Type 1 is more common and is usually diagnosed in adults. Type 2 is more common in children and often involves a more severe disease process. There are also variant types of AIH; these include individuals with AIH and one of the other autoimmune liver diseases (primary sclerosing cholangitis or primary biliary cholangitis).

  1. Positive ANA, smooth muscle antibody, and
  2. F-Actin antibody are found in Type 1.
  3. AIH in children has a single age peak at 10 years, and Type 2 is commoner.
  4. This case is unusual as he has presented early, is a boy and has Type 1 AIH that has a fair prognosis.
  5. Management usually is with steroids and azathioprine.
  6. In this child, as there is a possible overlap syndrome, MRCP and genetic studies have been suggested.

Acknowledgements

We wish to thank Dr. Kumaragurubaran, who comanaged the child. Dr Karthikeyan, for his assistance in Ultrasound guided biopsy. He helped our PG do the biopsy. Dr. Abinaya, our 1st year PG helped to prepare the presentation.

References

  1. Amarapurkar D, Dharod M, Amarapurkar A. Autoimmune hepatitis in India: single tertiary referral centre experience. Trop Gastroenterol. 2015;36(1):36–45.

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