Dr.Shobika,Dr.C Jayakumar,DrBhanuVikraman Pillai Dr.Praveena Bhaskar, Dr.Navya AIMS Pediatrics
Three month old female child presented with subcutaneous swelling over left thigh which developed 2 weeks following first dose of NIS schedule vaccination.Mother noticed yellowish discoloration of urine and yellowish discoloration of eyes for 3 days.Child also had bluish ecchymotic patches over lower back.
No h/o fever ,irritability cough and fast breathing exertional dyspnoea ,vomiting, loose stools, fever, joint swelling, crying during micturition after birth
Delivery was conducted in a suburb of Kochi hospital and birth history was normal. For some reason ba has not received any injections before discharge or oral drops as medicine
On42nd day of life -Infection of left mammary gland was treated with oral amoxicillin for 5 days.Otherwise ba was thriving well and developing normally with face regards and social smile
At admission, the child was febrile with other vitals stable.Icterus was present in the sclera
Head to foot examination:yellowish discoloration of face and eyes
Bluish patches over chest,right upper limb and lower back,swelling of left thigh.
Systemic examination: P/A: soft,non tender,liver + 1cm soft,spleen tip +.
Labs :
Elevated WBC-28.38 with normal counts (N-56.4,L-36.2)
Coagulation profile:
Elevated PT/INR-11/14/0.74 and APTT-31.7
GGT – normal
LFT- TSB of 5.2, DSB of 3.8, ALP of 675IU/L, Retic count of 9.5%, LDH of 522U/L
Inj.vitamin k and FFP were given.
Retina showed no evidence of embroyotoxon or posterior segmental inflammation.
Coombs test was negative.
Peripheral smear:normocytic normochromic anemia,neutrophilic leucocytosis and thrombocytopenia.
USG abdomen: GB was present on fasting and contracted post feed
IgM HSV 1 and 2 negative
IgM toxoplasma negative
IgM rubella negative
IgM cytomegalovirus negative
Urine c/s no growth
HIDA scan: normal progression of tracer into intestinal loops which rules out possibility of biliary atresia.
PIVKA(protein induced Vitamin K absence) – (>30000.00) Positive
Coagulation work up report: reduced levels of factor 2,7,9,10,11.
Differentials :
PFIC(Progressive familial intra hepatic. Cholestasis ) mutation
Cholestatic liver disease
Coagulopathy?
Late onset Haemorrhagic disease of new born (HDN)
PFIC is made as diagnosis.
Child was started on Ursodeoxy cholic acid and 3 doses of vitamin k were given.
Repeated counts showed improvement in PT/ APTT INR (12/14/0.83)
No further episodes of clinical bleeding.Repeat counts showed WBC of 16.33,N-16.1,L-76.2.Repeated bilirubin at discharge was 5/3.88.
PFIC(progressive familial intrahepatic cholestasis)
Autosomal recessive disorder of childhood
3 types:PFIC 1,2,3
PFIC 1 and 2 – 1st months of life
PFIC 3 – in infancy,childhood and young adulthood
Clinical manifestations:cholestatis,pruritus,jaudice
Labs:GGT normal in PFIC 1 and 2,increased in PFIC 3.
Management:Medical – Diet,medications, mega dose fat soluble vitamins
Double dose B complex vitamins
Surgical – external or internal biliary diversions
Prognosis
Liver transplantation is the only cure for this condition
Take home message:
Vitamin k should be given to all newborns at birth and it should be documented.
This case turned out not to be due to Late HDN as we don’t expect Cholestasis in late HDN and a normal Gama GT irrespective of Cholestasis