Danyal Babar: The Case

Setting: Outpatient pediatric office

On day of life 3, Danyal Babar was brought to the pediatrician’s office for a weight check.

Newborn history:

Danyal was born at 38 weeks via spontaneous vaginal delivery. He is the second child of a married couple who emigrated from Pakistan to Louisville 1 year ago.

Birth weight was 3.8kg (91st percentile), length 48.2cm (25th percentile), and head circumference 33cm (25th percentile).

At 6 hours post birth Danyal was reported to be ‘jittery’ and a capillary heel prick blood test revealed a blood glucose reading of 32 mg/dL.

Breast-feeding was initiated and his capillary blood glucose was monitored over the next 48 hours.

His blood glucose levels stayed above 70, and mother and baby were discharged at 2 days post birth after the standard newborn screen was obtained.

Neonatal follow-up:

Vital signs were normal for age. He was mildly jaundiced over his head and chest.

 A transcutaneous bilirubin was 11 mg/dL.

Mom reported continued poor feeding with struggling to latch and only staying on the breast for a few minutes each feed. Her milk has come in and she was pumping the remainder of milk produced. His weight was 3.5 kg, and he was having 4-5 small seedy stools daily. A blood glucose was rechecked and was 77 mg/dL. Mom was advised to continue to offer breast milk feeds on demand and follow up the next day.

Later in the evening of day of life 4, Danyal’s mother called the pediatrician to report that Danyal had vomited after leaving the office and was now not responding to stimulation or feeding. The pediatrician advised her to take the baby to the emergency room for evaluation.

In the ER:

Vitals

Test	Value
T	96.1
HR	189
BP	130/65
RR	24
Weight	3.4 kg

Danyal was noted to be floppy and unresponsive to stimuli.

Exam was also notable for hepatomegaly and jaundice over the head, torso, and legs.

A heel stick glucose at triage was 12 mg/dL.

An IV was placed and several diagnostic labs drawn; he was bolused with 10% dextrose at a dose of 2 mL/kg, then 10% dextrose continuous intravenous infusion was started.

Blood, urine, and cerebral spinal fluid studies and cultures were sent, and he was placed in a warmer.

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His level of responsiveness gradually improves and vital signs normalize. He is admitted for suspected sepsis or metabolic disorder.

The admitting resident and 3rd year medical student obtained additional family history.

Danyal’s mother developed gestational diabetes at 30 weeks and was treated with insulin for the remainder of the pregnancy. She also took prenatal vitamins, but no other medications and she does not smoke, use drugs or drink alcohol. Neither parent has any chronic illnesses.

Danyal’s father is a doctoral student in Public Health and mother works sustaining the children and home. Mother and father are first cousins who have been married for several years but lived apart as father pursued emigration to America, work, and his studies, with mother and their 24-month-old daughter Farah joining him in Kentucky 1 year ago. Farah’s development has been slower than normal; her speech was delayed, and walking was not established until 20 months of age. She has never been hospitalized or had problems with infections, growth, or jaundice. She breastfed until 12 months of age, then changed to cow’s milk, and continues to drink about 5 8-ounce bottles of milk a day in addition to some table foods.

The parents are from a small remote village where most of their extended family (over 300 people) remain. They are aware that a couple of infants died unexpectedly in the last decade, but their direct relationship to Danyal is not clear. A paternal grandfather also has type 2 diabetes.

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Diagnostic studies:

(all drawn at the time of initial evaluation in the ER prior to glucose infusion)

Test	Value
Serum insulin	2 μunits/mL (normal 2-25)
Serum lactate	20 mg/dL (normal < 5)
Serum ketones	negative
Serum ammonia	156 μmol/dL (normal <35)
Uric acid	12.1 mg/dL
Serum cortisol	24 μg/dL (normal 5-25)
Creatine phosphokinase	5,000 (normal < 250)

Electrolyte Panel:

Test	Value
Sodium	156 mEq/L
Potassium	5.9 mEq/L
Chloride	117 mEq/L
Bicarbonate	14 mEq/L
BUN	39 mg/dL
Creatinine	1.1 mg/dL
Glucose	21 mg/dL

Liver Panel:

Test	Value
Albumin	5.1
Bilirubin	14.1
AST	370
ALT	360
Alkaline phosphatase	150 units/L

Urine:

Test	Value
pH	6.5
Sp Grav	1.030
Ketones	negative
Bilirubin	2+
Urobilinogen	2+
occ blood	negative
RBC	Zero
WBC	Zero
Leukocyte esterase	negative
Glucose	negative

Complete blood count and CSF are normal for age. Head CT was performed and was normal for age.

Head CT was performed and was normal for age.

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Hospital Course:

Danyal’s glucose infusion was continued upon admission for frequent blood sugar monitoring. Continued breastfeeding was encouraged. He was also started on broad spectrum antibiotics for the possibility of neonatal sepsis. The glucose drip was then weaned off after 24 hours with all samples having values > 90 mg/dL. When his blood, glucose, and urine cultures demonstrated no growth at 48 hours, antibiotics were discontinued. His AST, ALT, bilirubin, lactate, and ammonia levels all normalized, as did his bicarbonate level. At this point, Danyal was 6 days old.

Lactation consultants worked with mother and Danyal and his latch and ability to take a full feed improved. He was monitored an additional 24 hours off of supplemental glucose with breastfeeding every 3 hours, and his pre-prandial blood glucose stayed in the 80-100 range. He was now wetting 8-10 diapers per day and stooling 6-8 times per day. His parents were taught how to use a glucometer and instructed to sample his glucose every 3 hours at home for the next week. They were also instructed to seek care if he became lethargic again or was feeding poorly, and they were discharged home.

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Follow-up:

On day of life 10, Danyal’s pediatrician received his newborn screen back from the state, which showed elevated octanoyl carnitine in his blood on tandem mass spectrometry. He called them to come to his office to discuss this positive screening result and arrange for further testing. He then called the on-call genetics and metabolic medicine specialist to discuss the patient’s care needs and additional tests required as well as arrange follow-up.