Dr. Ira Shah *
In charge, Pediatric Hepatobiliary Clinic,
Department of Pediatric Hepatobiliary Clinic,
B. J. Wadia Hospital for Children, Parel, Mumbai. *
|Abstract: The classical presentation of a patient with |
primary lactic academia is growth retardation, ataxia, stroke and increased lactic acid levels in blood and CSF. We present a case of Primary Lactic Acidemia who presented at 5 years with recurrent hematemesis with hypoglycemia and chronic liver disease.
Case Report: A five years old male child born of non-consanguineous marriage presented with repeated episodes of hematemesis since 6 months of age. At 2 years of age, he had hematemesis with hepatic encephalopathy and was diagnosed to be Hepatitis A IgM positive. He was treated with fresh frozen plasma and packed cell transfusion. An esophagogastroscopy revealed gastritis. At 2½ years of age, he had vomiting, fever and hematemesis associated with altered sensorium. He had persistent hepatic dysfunction with elevated serum transaminases and had severe metabolic acidosis. His CSF analysis, serum electrolytes and CT brain were normal. His liver biopsy showed normal architecture of liver with vacuolar changes, focal steatosis and Kupffer cell hyperplasia with mild chronic periportal inflammation. He was treated with bicarbonate infusions. At 4 years of age, he had generalized tonic clonic convulsions. His liver function tests were normal and he was detected to have hypoglycemia with metabolic acidosis. He was treated with glucose and bicarbonate infusions. At 4½ years of age, he had vomiting along with hematemesis. His liver function tests were normal and he had severe metabolic acidosis with hypoglycemia. His barium swallow was normal. He was treated with bicarbonate infusions and packed cell transfusion. At 4¾ years of age, he presented again with hematemesis and had hypoglycemia with prolonged prothrombin time. His urine ketones were positive and was treated with fresh frozen plasma and glucose infusions. On presentation, the child had mild hepatomegaly with severe metabolic acidosis with hypoglycemia. His liver transaminases were elevated. He was suspected as a case of metabolic disorder with metabolic acidosis, hypoglycemia and chronic liver disease. His serum lactate was elevated [37.4 mg/dl (Normal 5.722 mg/dl)] and serum pyruvate was normal [0.55 mg/dl (Normal = 0.36-0.59 mg/dl)] with an elevated lactate:pyruvate ratio of 68:1. His urine organic acids chromatography and serum carnitine was normal. His serum ANA, DNA, ceruloplasmin, ultrasound of abdomen, serum ammonia, serum creatine phosphokinase, urinary copper were all normal. His HIV, HBsAG and Anti HCV ELISA were negative. Thus, he was diagnosed as a case of lactic acidosis with recurrent hematemesis, hypoglycemia and chronic liver disease. He was treated with bicarbonate infusions, IV antibiotics and glucose infusions and discharged on supplements of Coenzyme Q. Carnitine, Thiamine and Riboflavin. On follow up after 6 months, he was asymptomatic.
Discussion: Primary Lactic academia is seen with defects in gluconeogenesis where conversion of pyruvate to glucose is interrupted, and with mitochondrial enzyme defects. Patients with conversion defects present with episodes of hypoglycemia and life-threatening metabolic acidosis as was seen in our patient. In addition, patients with GSD Type 1 and PEPCK enzyme deficiency have hepatomegaly. Definitive diagnosis of these defects in gluconeogenesis is established by enzyme analysis in liver or lymphocytes which we were unable to do in our patient due to unavailability of the facility. Treatment of acute attacks consists of correction of hypoglycemia and acidosis by intravenous glucose and bicarbonate infusions as we did in our patient.
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|Shah I D.. Available From : http://www.pediatriconcall.com/fordoctor/ Conference_abstracts/report.aspx?reportid=247|