An 8-year-old male patient admitted to our pediatric emergency clinic due to acute abdominal pain, nausea and non-bilious vomiting. The pain was severe, intermittent and localized in the umbilical region. There was no history of trauma and chronic drug use.\nHe had been investigated due to hypotonia in the neonatal period but no etiological factor had been determined. At the age of six years, he was performed cranial magnetic resonance imaging due to mild mental retardation and speech impairment and reported to be normal. Additionally; he had been hospitalized and treated for AP attack in our pediatric gastroenterology clinic two years previously. No causative factor was determined for the AP attack. Thereafter; he had admitted two times to another medical center due to recurrent vomiting and abdominal pain attacks. No aggravating factor was determined by the physicians for the abdominal pain attacks.\nThird-degree parental consanguinity was present in family history. Our patient was the mother's third pregnancy (gravidity 6, parity 5, alive 4, and miscarriage 1). Two siblings had idiopathic epilepsy.\nAt physical examination, his appearance was lethargic. His body weight was 22 kg (10-25 percentile) and height was 132 cm (50-75 percentile). At laboratory analysis; complete blood count, electrolyte, liver-kidney function tests, lipid levels, lactate were within the normal levels. The initial ammonia level was 69 µmol/L (normal range, 16-53 µmol/L). The mild hyperammonemia improved spontaneously on second day. The blood gas analysis was normal (pH, 7.41; PCO2, 38 mmHg; PO2, 93 mmHg; HCO3, 21 mmol/L; SPO2, 98; BE, 1.2 mmol/L). Serum amylase and amylase clearance were 1,442 U/L (normal range, 25-90 U/L) and 6% (normal interval, <5%), respectively. Abdominal ultrasonography revealed increased pancreatic tail echogenecity and size with perisplenic and pelvic free fluid. The patient was hospitalized for the second time with a diagnosis of AP on the basis of clinical, laboratory and radiological findings. Oral nutrition was discontinued and the patient was started on somatostatin, intravenous fluid and antibiotics. The clinical and laboratory findings of the patients improved on the sixth day.\nMagnetic resonance cholangiography performed due to recurrent AP attacks and revealed minimal dilation of 3 mm at the widest point in the main pancreatic duct (normal interval, 2-3 mm). There was no pancreatic stone, congenital malformation or other anomaly.\nMetabolic tests including tandem mass spectrometry and urinary organic acids performed due to mental retardation, family history, consanguinity and recurrent attacks (abdominal pain and vomiting). There were an increase in isovaleric acid and its derivatives in urinary organic acids (isovaleryl-glycine >20×normal upper limit), an increase in C5 isovaleryl-carnitine (3.38 µM; normal upper limit, 0.47) and a decrease in C0 free carnitine (5.43 µM; normal lower limit, 7.5) and C3 propionyl-carnitine (0.48 µM; normal lower limit, 0.55) at tandem mass spectrometry which analyzed in serum data. A diagnosis of IVA was made based on metabolic test results. Molecular genetic analysis revealed a homozygous mutation of (p.E117K [c.349G>A]). The patient was started on protein and leucine-restricted diet (1.5 g/kg), glycine (200 mg/day) and carnitine (100 mg/kg). We have been monitoring the patient for 8 months and no AP attacks have occurred following therapy.\nMolecular genetic analysis of parents and a healthy sibling were studied because of parental consanguinity history and revealed a heterozygous mutation of (p.E117K [c.349G>A]). The other siblings with epilepsy could not studied ().
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 ).