GRAND ROUNDS AND TEACHING FILES
Galactosemia


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Clinical Problem:


Ira Shah
Medical Sciences Department, Pediatric Oncall, Mumbai, India

Address for Correspondence: Dr Ira Shah, 1, B Saguna, 271, B St Francis Road, Vile Parle {W}, Mumbai 400056, India.


A 3½ months old boy born of non-consanguineous marriage presented with abdominal distension for 8 days, jaundice and ecchymoses over trunk for 1 day. There was no clay coloured stools or fever. He was a full term delivered child with birth weight of 3 kg and no antenatal or post natal complications. He was immunized till date and was on breast feeds. He had achieved social smile and partial head holding. On examination, height was 67 cms, weight was 5.6 kg, vital parameters were normal. He had jaundice, hepatosplenomegaly, ascitis and ecchymotic patch over trunk. Other systems were normal. There were no cataracts. Investigations showed hemoglobin of 10.7 gm, dl, WBC of 7100, cumm, platelets of 1,64,000, cumm, bilirubin of 12.3 mg, dl {direct bilirubin of 5.3 mg, dl}, SGOT of 121 IU, L, SGPT of 36 IU, L, alkaline phosphatase of 1785 IU, L,GGTP of 186 IU, L, total proteins of 5.8 gm, dl, albumin of 3.0 gm, dl, prothrombin time and partial thromboplastin time of more than 2 mins. Venous blood gas showed pH of 7.468 and bicarbonate of 9.4 mmol, L. Urine reducing substance was positive and urine organic acids showed increased glycine, serine, threonine, galactose, galactitol, galactonate. HIDA showed excretion of tracer in the intestines and ultrasound abdomen was normal. Galactose-1 – phosphate uridyl transferase levels were 2.8 units, gm Hb {Normal range = 10-45 units, gm Hb}, which were again repeated and found to be 2.9 units, gm Hb. Patient was treated with galactose free diet and breast feeds were stopped. In view of ascitic fluid showing 500 cells, cumm {2 percent polymorphs, 98 percent lymphocytes} and proteins of 2.5 gm, dl, patient was treated with IV antibiotics for 10 days. On follow up at 6 months of age, patient weighted 7 kg, had normal milestones, bilirubin was 0.5 mg, dl, SGOT was 50 IU, L, SGPT was 35 IU, L. However the child had developed portal hypertension.



What is the long term outcome in patients with galactosemia_?

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