Surabhi Khasgiwala, MBBS
Pediatric Resident
University of Hawaii Pediatric Residency Program, United States
Disclosure information not submitted.
Nelly Gutierrez Martinez, MD
Pediatric Resident
University of Hawaii Pediatric Residency Program, United States
Disclosure information not submitted.
Jeremy King, DO
Pediatric Gastroenterologist
Kapiolani Medical Center for Women and Children, United States
Disclosure information not submitted.
John Harrington, MD
Pediatic Intensivist
Kapiolani Medical Center for Women and Children, United States
Disclosure information not submitted.
Aileen Tanaka, MD
Pediatric Neurologist
Kapiolani Medical Center for Women and Children, United States
Disclosure information not submitted.
Barry Mizuo, MD
Pediatric Hospitalist
Kapiolani Medical Center for Women and Children, United States
Disclosure information not submitted.
Andrew Feng, MD
Pediatric Intensivist
Kapiolani Medical Center for Women and Children, United States
Disclosure information not submitted.
Prashant Purohit, MD FAAP
Pediatric Intensivist
Kapiolani Medical Center for Women and Children, Hawaii, United States
Disclosure information not submitted.
Title: Severely elevated transaminase levels in neglect associated severe protein-calorie malnutrition
Case Report Body:
Description: A 7 years-old-male with history of developmental delay, dysphagia, and autism, presented with decreased responsiveness. He exhibited severe malnutrition, hypoglycemia (glucose 45 mg/dL), hyponatremia (sodium 128 mmol/L), stage 4 decubitus ulcers, and burns to multiple areas. His weight was 12.2 Kg (< 0.01 percentile) and height 104 cm (0.07 percentile). AST was 5080 U/L, ALT 2097 U/L, albumin 2.9 g/dl, total bilirubin 0.5 mg/dl, alkaline phosphatase 672 U/L, GGT was 145 U/L. CK, urine drug screen, acetaminophen level and other initial workup were unremarkable. Iron and vitamin D levels were low.
His birth history was significant for prematurity, hypoglycemia, TPN requirement and metabolic acidosis. These were resolved by discharge on oral feeds. His weight at 3 and 5 years of age were at 57th and 34th percentile respectively with no further follow-up.
His workup for hepatitis A,B,C, HIV, EBV, CMV, HSV, serum ceruloplasmin and ophthalmologic examination was negative. Ultrasound showed increased liver echogenicity and trace free fluid. Newborn screen, ammonia, and plasma amino acid were negative. Lactate of 6.3 followed by 3.1 mmol/L, which in the absence of shock suggested hepatic dysfunction. Pyruvate level mildly elevated to 0.124 mmol/L (range 0.03-0.1). Urine organic acid significant for dicarboxylic acid, likely reflective of MCT supplements. Microarray and Fragile X testing were negative, which ruled out metabolic disorders. MRI brain showed diffuse cerebral atrophy and white matter volume loss attributable to malnutrition.
OUTCOME: His transaminases gradually normalized in 3 weeks with nutritional support. He was able to eat by himself, ulcers healed and growth resumed, foster care was established.
Discussion: Our patient's infectious and metabolic workup was negative. Burn-associated transaminase elevation has been reported, but not of this severity. Normal CK ruled out muscle contribution. His transaminases normalized with nutritional support, which confirmed its relation with malnutrition. Starvation-related autophagy and acute liver injury are known in nutritional deficiency and anorexia nervosa. Similar pathophysiology can be applied here. To the best of our knowledge, this is the first report of this degree of transaminase elevation from malnutrition.