Danyal was born at 38 weeks via spontaneous vaginal delivery. He is the second child of a married couple who emigrated from Pakistan and now live in Louisville and was delivered at University of Louisville Hospital. Father is a doctoral student in Public Health and mother works sustaining the children and home. Birth weight was 3.8 kg (91st percentile) length 48.2cm (25th centile), and head circumference 33cm (25th centile). His mother developed gestational diabetes at 30 weeks and was treated with insulin for the remainder of the pregnancy. At 6 hours post birth Danyal was reported to be ‘jittery’ and a capillary heel prick blood test revealed a blood glucose reading of 32mg/dL. Breast-feeding was initiated and capillary blood glucose measurements followed in Danyal for 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.
On day of life 3, Danyal was brought to the pediatrician’s office for a weight check. Vital signs were normal for age. He was mildly jaundiced over his head and chest and 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.
Emergency Room visit:
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 sent her and the baby to the emergency room for evaluation.
In the ER, Danyal was noted to be floppy and unresponsive to stimuli. His vitals were:
A heel stick glucose at triage was 12 mg/dL. An IV was placed and several diagnostic labs drawn; he was bolused with 25% dextrose at a dose of 2 mg/kg, then 10% IV dextrose infusion was started. Blood, urine, and cerebral spinal fluid studies and cultures were sent, and he was placed in a warmer. His level of responsiveness gradually increased over the course of several hours, and his vital signs stabilized to normal. Besides lethargy, exam was notable for hepatomegaly and jaundice over the head, torso, and legs. The Emergency Room physician called the on-call pediatrics resident to admit the patient for suspected sepsis or metabolic disorder.
The admitting resident and 3rd year medical student obtained additional family history looking for similar problems in infancy. Mother and father are first cousins who had 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 breast fed 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 were from a village in Pakistan that included their entire extended family (over 300 people) and had heard that a couple of infants had died unexpectedly in the last decade, but their direct relationship to Danyal is not clear. A paternal grandfather also has type 2 diabetes.
Danyal’s mother was not taking any medications other than prenatal vitamins and does not use drugs or drink alcohol. Neither parent has any chronic illnesses.
Diagnostic studies: (all drawn at the time of initial evaluation in the ER prior to glucose infusion)
|Serum insulin||2 μunits/mL (normal 2-25)|
|Serum lactate||20 mg/dL (normal < 5)|
|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)|
|Alkaline phosphatase||150 units/L|
Complete blood count and CSF are normal for age. Head CT was performed and was normal for age.
Danyal’s glucose infusion was continued upon admission for frequent blood sugar monitoring via capillary blood sampling. 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 and blood glucose sampling was continued. When his blood, glucose, and urine cultures were 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 until his newborn screen returned. They were also instructed to seek care if he became lethargic again or was feeding poorly, and were discharged home.
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-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.