| At birth |
Date of birth: 05 June, 2015 |
| Birth weight: 2860 g; weight at discharge: 2710 g; Apgar 9/9 |
| Teenage mother (14 years old); four prenatal visits |
| GA: 38 weeks + 2 days for 26 weeks ECHO |
| Negative serology |
| Cesarean section for active genital herpes |
| No report of parental consanguinity |
| 1st hospitalization (67 hours of life) |
Hypoactivity |
| HGT 27 mg/dl |
| Neonatal ICU admission |
| Discharge at 7th of life |
| No record of hypoglycemia during hospitalization |
| 2nd hospitalization (9 months) |
Vomiting |
| Sensory lowering |
| Hypoactive and with mild but vigorous breathing effort, but afebrile |
| Very slow perfusion, thin wrists |
| Received 2 SF push 0.9% 20 ml/kg |
| HGT 39 mg/dl |
| Sepsis screening and ceftriaxone initiation |
| Transferred to the pediatric ICU |
| CSF normal; CK 1141 U/l; CKMB 35 U/l; troponin 39 ng/ml |
| Head CT scan unchanged |
| EEG with left diffuse slowing, phenobarbital initiation |
| She was discharged after 23 days with diagnosis of sepsis resolved, with no record of complications during hospitalization |
| 3rd hospitalization (1 year and 4 months) |
Vomiting complaints |
| Sensory lowering |
| History of hypoglycemia |
| 4th hospitalization (1 year and 7 months) |
Febrile, bradypnea, bradycardia, with HGT 18 mg/dl |
| Received PPV and mask until ventilation recovered |
| Received 5% glycated serum 2 ml/kg, push SF 20 ml/kg |
| Sepsis screening: normal tests results |
| Abdominal ultrasound with no changes |
| Brain MRI unchanged |
| Endocrine and genetic consulting |
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Endocrine assessment: normal test cortisol/low GH, but isolated deficiency would not justify severe hypoglycemia
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Glucose: 44 mg/dl; insulin: 1 mU/l
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Normal arterial blood gas
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Lactate 0.7 mg/dl
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Free fatty acids 1.61 mMol/l
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Glucagon test (GH up to 1.79 and cortisol 18.6)
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Neurological assessment: gradual decrease of phenobarbital
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Tests submitted for screening for IEM
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| Discharge with outpatient return for IEM test results |
| Febrile, bradypnea, bradycardia, with HGT 18 mg/dl |
| 5th hospitalization (1 year and 10 months) |
Vomiting and drowsiness complaint |
| FGC, afebrile, paleness, hypoactive, drowsiness, HGT 109 mg/dl |
| CA: RR in two periods of time, NFS, with no heart murmur |
| LA: EDBM with no adventitious noises |
| Innocent abdomen |
| No signs of hemorrhagic suffusion or meningism |
| Well perfused ends |
| Patient follow-up at the service for similar clinical conditions |
| Bone age x-ray: normal |
| MRI normal sella turcica |
| Normal EEG |
| IEM result: medium-chain acyl-CoA dehydrogenase deficiency of fatty acids |
| 6th hospitalization (2 years) |
Gastroenteritis |
| Cardiorepiratory arrest |
| Death |
DNA: deoxyribonucleic acid.