A 3.5-year-old girl was transferred to our institution from a local hospital with abdominal pain and bilious vomiting for further investigation and management. The child was diagnosed with isovaleric acidemia in the neonatal period, because there was a positive family history of a sibling death from this inherited disorder. Hence, measurement of elevated concentrations of isovalerylglycine in urine and of isovalerylcarnitine in plasma by mass spectrometry [] was performed after birth; then, isovaleric acid CoA dehydrogenase deficiency was confirmed by assaying its enzymatic activity in cultured skin fibroblasts [].\nThe child was admitted to the local hospital two days ago because of new-onset upper abdominal pain. Although she was unable to describe the nature and character of the pain, it was not severe enough to require analgesics. One day prior to her admission to us, she developed vomiting that eventually became bilious.\nThe patient who had normal growth and development was on oral L-carnitine supplementation since infancy. Beside that, she was not receiving any other medications. Her family history was negative for pancreatitis. On admission to us, she was afebrile with normal vital signs. On physical examination, there was moderate upper abdominal tenderness without rebound, while she had normal bowel sounds and no organomegaly. Laboratory studies on admission revealed the following: leukocytes 10,110/μL, hemoglobin 14 g/dL, hematocrit 37.2%, platelets 169,000/μL, glucose 185 mg/dL (normal < 100 mg/dL), urea 26 mg/dL, creatinine 0.4 mg/dL, sodium 133 mEq/L, potassium 3.6 mEq/L, chloride 103 mEq/L, AST 34 U/L, ALT 22 U/L, LDH 426 U/L (normal < 280 U/L), albumin 4.3 g/dL, total bilirubin 0.7 mg/dL, direct bilirubin 0.2 mg/dL, γ-GT 16 U/L, triglycerides 80 mg/dL, calcium 10 mg/dL, and amylase 536 U/L (normal 40–140 U/L). Arterial blood gases showed the following: pH 7.55, pCO2 21 mmHg, pO2 133 mmHg, HCO3 23 mmol/L, and base deficit 3.8 mmol/L. The anion gap was estimated at 7. A coagulation profile and a urine analysis were normal.\nDue to the bilious nature of vomiting, an abdominal ultrasound () was obtained that showed a notably enlarged and edematous pancreas, along with the presence of peripancreatic exudates that were extending bilaterally towards the anterior paranephric spaces and towards the right colon. The wall of the duodenum was also diffusely edematous. No gallstones were seen, the bile duct was not distended, and there was no sludge in it, while the liver, spleen, and appendix were visualized without echomorphologic abnormalities.\nSince the goal of management of acute pancreatitis is to achieve analgesia, adequate rehydration, and organ rest, the child was managed with discontinuation of oral feedings, placement of a nasogastric tube, intravenous hydration with 5% dextrose with electrolytes, and administration of intravenous ranitidine and of L-carnitine, 500 mg every 8 hours, that is, approximately 100 mg/kg/day.\nThe patient's clinical course was uncomplicated. Serum amylase normalized (84 U/L) on the 4th hospital day. She was fed with a low-fat and protein diet on the 6th hospital day. On the same day, the intravenous fluids were discontinued. Two follow-up ultrasonographic examinations on the 3rd and 5th () hospital days showed progressive but rapid resolution of the pancreatic edema and of the peripancreatic exudates. Due to substantial clinical improvement, with complete disappearance of the abdominal pain, the child was discharged home without any complaints on the 8th hospital day. She continued to do well, two months after hospital discharge.
Case 5 was a 15-year-old boy with cerebral palsy. He was born via NSVD at full term. He showed normal growth and development until 40 months of age, which was when he had seizures followed by fever of unknown origin. He underwent a day-long fasting for sonogram, which resulted in acute liver enlargement and elevated liver enzyme levels. The sonogram showed fatty liver and hepatomegaly. Following the fasting, he had cerebral palsy with spasticity. The acylcarnitine profile showed elevated free carnitine levels, no ketones in urine, and generalized aminoaciduria. Urine acylglycine analysis revealed a propionyl glycine level of 3.81 (reference: < 1.93), and urine organic acid analysis revealed hypoketotic hypoglycemia and 3-methylglutaconic aciduria during a metabolic crisis. He experienced periodic pseudo gut paralysis, requiring metronidazole treatment. Muscle biopsy showed normal mitochondria, although the number of mitochondria was low. At 10 years of age, he entered an unresponsive semi-comatose state following poor oral food intake for over 6 days, which was accompanied by marked hepatomegaly, severe dehydration, and pancreatitis. His liver enzymes were elevated as follows: AST, 4428 U/L; ALT, 2532 U/L; however, his bilirubin level was normal (0.2–0.3 mg/dL). At the same time, his renal function was considerably impaired (BUN level, 120 mg/dL (reference: 18 mg/dL); Cr level, 2.6 mg/dL; lactic acid level, 2.9 mmol/L; NH3 level, 200–300 mmol/L). Other laboratory findings showed the following: sodium level, 140; chloride level, 107 mmol/L; phenylalanine level, 720 (normal range: 39–76); free carnitine level, 80.2 (reference: ≤ 50); LDH level, 456 U/L (normal range: 100–190 U/L); CPK level, 446 mg/dL (normal range: 21–232 mg/dL); lipase level, 493–13,978 U/dL (normal range: 10–140 U/dL); amylase level, 122.0–808 U/dL (normal range: 25–125 U/dL) (Table ). Abdominal CT scan showed edematous changes and enlarged pancreas. Pancreatitis was alleviated in 2 weeks by supportive treatment involving the administration of 10% dextrose electrolyte solution. His extra-pancreatic manifestations were pleural effusion, pneumonia, and scoliosis of the T-L spine. At 11 years of age, he had status epilepticus after prolonged inadequate oral food intake because of parental refusal to undergo gastrostomy tube placement. He again experienced liver dysfunction and progressive hepatomegaly. Brain MRI revealed severe brain atrophy with dilatation of ventricles and prominent sulci. After recurrent aspiration pneumonia, pseudo gut paralysis, and liver dysfunction, he died of a cardiac arrest at the age of 15 years.