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 6 was a 35-year-old woman who was confirmed to be blind and diabetic. She was born at full term via NSVD to a 21-year-old mother (G2P1 SAB) with a birth weight of 3.73 kg. She had tunnel vision, myopia, and night blindness at the age of 5 years. At the age of 7, she was diagnosed with juvenile-onset diabetes. She had menarche when she was 16 years old. She was evaluated metabolically at the age of 34 and high ornithine levels were detected in her blood and urine. Hyperornithinemia/gyrate atrophy was confirmed. She was legally blind, but had been working with constricted visual field at a daycare center. She had normal chromosomes (46, XX). The pancreatic autoimmune panel test was negative for the GAD protein and islet cell antibody; however, a high titer of anti-insulin antibodies was observed, which might be due to insulin therapy. Her vital signs, including blood pressure (110/70 mm Hg), were stable. Her weight was 57.1 kg (50th percentile), height was 156 cm (10th percentile), and HC was 54.5 cm (25–50th percentile). She looked relatively healthy and had a round face. Physical examination showed short stature and sparse light and dark hair. Her lower thoracic cage was prominent. Her lungs were clear to auscultation and heart sounds were normal without murmurs. Regarding the extremities, she had short limbs, thick and short fingers, missing knuckles of the 4th fingers, abnormally long 2nd and 4th toes, pitting edema, and mildly short Achilles tendons. She had subcutaneous nodules on both legs, lipodystrophy on the injection sites of the abdomen, and brisk DTR. In addition, her visual field was extremely constricted and her fundi showed abnormal pigmentation, sparing a small proportion of the retina. Ophthalmologic examination revealed isocoric pupils, clear corneas, pale fundi, and thin retinal vessels; she also had limitations of extraocular muscle movements in all directions, with nystagmus. Plasma amino acid analysis showed ornithine levels of 756–900 µmol/L (reference: 106 µmol/L). After the diagnosis of gyrate atrophy of the choroid and retina associated with hyperornithinemia, she was fed a low-protein diet (Table ). During the follow-up, she did not have pancreatitis (Table ).