A 16-year-old male with a history of recurrent rhinosinusitis at 4 years of age, factor VII and X deficiency (detected at 4 years), unconjugated hyperbilirubinemia (detected at 15 years).
A 37-year-old mother with mental retardation died due to convulsive status.
She was admitted due to asthenia, hypotension (100/70 mmHg), anorexia and dizziness with dexamethasone dose reduction (DDD prescribed at 60 mg/day) due to peripheral facial paralysis.
The suspicion of adrenal insufficiency was admitted to the hospital ward.
A progressive tendency to sleep, slight disorientation and hyperbilirubinemia and hyperbilirubinemia were detected, so he was admitted to the Intensive Care Unit.
On arrival, the patient presented the following exploration: height 1.85 m, weight 75 kg, blood pressure 130/70 mmHg, heart rate 100 bpm, temperature 36.5o, oxygen saturation 100%, conscious but disoriented examination.
Analytical upon admission: Hb 16 g/dl (13-17.4), leukocytes 10.800 thousand/mm3 (4-11), platelets 196,000 Clic acid/mm3 (150-400), fibrinogen 287 mg/dL (200-450).
Glucose 118 mg/dL (69-100), urea 0.17g/L (0.1-0.7), creatinine 0.7 mg/dL (0.5-1), Na 145 mEq/L (132-145), K 3.5 mEq/L (3.5 mEq/L (3.1-59).
The following imaging tests were performed: brain CT scan with no remarkable findings and good differentiation of white and grey matter.
Abdominal ultrasound: no sign of thrombosis, homogeneous liver without alterations, kidneys, normal spleen.
Abdominal ultrasound showed no abnormalities in liver, spleen, bladder or kidneys.
No ascites, masses, or thrombosis.
Her liver and splenic vein were normal.
At 24 h of admission, elevation of the acolic acid up to 602 mg/dL and prothrombin activity 44% (75-130) (control of 3 months before Act.
Pr.
45%).
On the following day, paulatinic decreases in cocaine with a rise of 67 mg/dL from BT to 10.3 mgr/dL and BD 0.3 mgr/dL and 24 hours later intense psychomotor agitation GCS, followed by 7.
Orotracheal intubation was performed and brain CT was performed, which was normal and lumbar puncture was also normal.
Accustomosis at this time was 575 mg/dL, BT 12.7 mg/dL, and BD 0.3 mg/dL.
Eight hours later, each patient diagnosed with dementia and dengue fever, Carba 1,723 mg/dL, when empirical treatment was initiated when a urea metabolism disorder was suspected.
Twelve hours later we achieved a decrease in BT to 5.4 mg/dL, but the seizure rate rose to 4,535 mg/dL, falling to 4,004 mg/dL 12h later.
At this time the patient presented with signs of cerebral edema, neurological examination and transcranial Doppler compatible with death, confirmed by cerebral scintigraphy.
Necropsy was not performed but postmortem liver biopsy showed a liver with preserved architecture, ischemic centrolobular necrosis and changes suggestive of metabolic pathology.
Subsequent examination of blood and urine (at the reference center) showed a deficiency of ornithine transcarbase.
The family study identified one of the siblings and one maternal aunt as the carrier of the mother and affections.
