Dr Joepaul Joy, Dr Vinitha Prasad,Dr Bhanu Vikraman Pillai, DrPraveena ,Dr C Jayakumar
First born male child of a non consanguineous parentage presented at forty-five days of age who was normal at birth and on formula feeds with poor weight gain from day17, and low grade intermittent fever
Child had abdominal distension of 4 days duration. Outside health care facility diagnosed as neonatal cholestasis and UTI. and USG Abdomen showed free fluid in kidney, and urinary ascites secondary toPUV. Hence referred to AIMS
On examination, child was lethargic, icteric, with firm hepatosplenomegaly and ascites.
Differentialsof cholestatic jaundice:
1.Bacterial or viral infection
2. Galactosemia
3.Tyrosinemia
4.Hereditary fructose intolerance
5. Biliary atresia
6.Hypothyroidism
7. Cystic fibrosis
8. Hypopituitarism
9 Sepsis secondary to UTI
Labs suggested cholestatic jaundice, transaminitis, coagulopathy, with lymphocytic leucocytosis with negative inflammatory markers.
ABG showed lactic acidosis.
Urine reducing substance was 2+.
Ophthal evaluation done showed evidence of bilateral oil drop cataract.
USG Abdomen showed mild hepatomegaly with ascites and diffuse internal echoes with visualised gall bladder, no evidence of CLD/ biliary atresia.
With a high probability of Glactosemia, breast feeding was stopped and ba was started on Soy based formula along with symptomatic supportive measures, Vit K and diuretics.
Smear showed leucoerythroblastic blood picture with target cells, polychromasia and leucocytosis.
Urine culture negative
Total serum Galactose was sent and was elevated(109.98mg/dl).
WES was also sent.
His jaundice, ascites and coagulopathy improved well over a period of 1 week.
During hospital stay, ba developed severe pneumonia with desaturation
Respiratory viral panel detected Influenza B and RSV and Oseltamivir was started.
His respiratory symptoms settled over a few days and he was transferred back to ward. Three days later he developed high grade intermittent fever, due to gram negative sepsis
Blood culture showed Achromobacter xylosoidans and antibiotic was escalated to Piptaz.
USG Abdomen repeated showed hepatomegaly with fatty changes in liver, small focal right lobe hypoechoic lesion ?adenoma in setting of galactosemia- prominent CBD, bilateral extrarenal pelvis with trace left hydronephrosis.
Repeat labs showed improving trends, his fever settled and he had good weight gain. BERA was normal.
Mother and caretakers were concelled regarding nature of childs illness and need for lifelong avoidance of milk and milk products
WES report showed compound heterozygous variants in GALT gene and child is on regular follow up.
Galactosemia is a rare genetic metabolic disorder that affects metabolism of simple sugar called galactose. There is inability of the body to use galactose to produce energy. Chromosome affected is Chrom 9.
Various types include
1. Classic galactosemia
2.Galactokinase deficiency
3. Galactose epimerase deficiency
Clinical symptoms include weight loss, hepatosplenomegaly, jaundice, mental retardation,cataract.
Diagnosed amniocentesis, chorionic villous sampling and newborn screening.
Treatment:
Dietary restriction, avoid food and drinks containing galactose like milk, cheese, legumes, fermented soy products, organ meat and hydrolysed proteins.
Take home message- Early diagnosis for the cause of neonatal cholestasis should be made inorder to prevent cirrhosis for consideration that can be eminently treated