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 |
Endocrine assessment: normal test cortisol/low GH, but isolated deficiency would not justify severe hypoglycemia
|
Glucose: 44 mg/dl; insulin: 1 mU/l
|
Normal arterial blood gas
|
Lactate 0.7 mg/dl
|
Free fatty acids 1.61 mMol/l
|
Glucagon test (GH up to 1.79 and cortisol 18.6)
|
Neurological assessment: gradual decrease of phenobarbital
|
Tests submitted for screening for IEM
|
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 |