Pediatric Endocrinology

A 3-year-old girl is brought to the emergency department after her parents had found that she had difficulty in waking this morning. She has been ill with an upper respiratory tract infection for the past 2 days, so has not been eating very well. She did not eat any of her dinner yesterday. Her past medical history is significant for short stature and slow weight gain. She is not on any medication. She is sleepy and difficult to arouse. The physical examination findings are otherwise unremarkable. A finger-stick glucose level is 36 mg/dL (2.0 mmol/L). Blood is drawn at the time of hypoglycemia. She is treated with 1 g/kg of intravenous dextrose, after which she becomes alert and talkative.

Laboratory results are shown:

Laboratory test Result

Blood

Glucose:                            32 mg/dL (1.8 mmol/L)

β-Hydroxybutyric acid:       10 mg/dL (1720 μmol/L) 

                                        (Reference range, fasting<4.2 mg/dL [403 μmol/L])

Fatty acids (nonesterified): 80 mg/dL (2.8 mmol/L) 

                                        (Reference range, 17-42mg/dL [0.60-1.49 mmol/L])

Cortisol:                           8 μg/dL (772 nmol/L) 

                                (Reference range, AM 6.2-19.4 μg/dL [171-535 nmol/L])

Growth hormone:      14 ng/mL (14 μg/L) 

                                (Reference range, > 10 ng/mL [10 μg/L] with stimulation)

Lactate:                    10.8 mg/dL (1.2 mmol/L) (Reference range, 4.5-20 mg/dL [0.5-2.2 mmol/L])

Toxicology screen:                                    Negative

Urine

Urinalysis:               Large amount of ketones present

Organic acids:         Normal

Of the following, the MOST likely diagnosis is

A.     Fatty acid oxidation disorder

B.      Glycogen storage disease

C.      Hyperinsulinism

D.     Ketotic hypoglycemia

E.   Dawn phenomena 

Answer on 27/03/2019