severe neonatal hypertriglyceridemia

5 week old, full term infant who presented with concerns for bloody stools and was subsequently found to have lipemic blood on blood draw.

Devin was born at full term via C-section secondary to repeat and maternal predisposition to pre-Eclampsia. There were no complications during pregnancy or birth and birth weight was 8 pounds one ounce. Parents report that he had been doing well since birthwith no concerns from PCP. He has been breastfeeding every 1.5 hours or so 20-25 minutes at a time, mushy brown bowel movements, and normal wet diapers. 2 days ago, however, father noted that abdomen was distended. Then yesterday afternoon Devin had a large bowel movement that seemed to have blood in it. No discomfort or change in behavior noted with bowel movement. Throughout the evening he continued to have stool with bright red blood with small clots. Family initially called PCP, however when bloody stools continued brought Devin to outside ED for further care.

At outside ED Devin had abdominal xray within normal limits and Devin was transferred to CHP for further care.

In CHP ED, Devin had stable vital signs but stools with bright red blood continued. Bloodwork was drawn, however the blood was very thick and pink and no labs were able to be obtained from the sample.

Past Medical History:

Birth history as above. No other past medical history.

Family History:

- Father with familial hyperlipidemia since childhood with liver biopsy at 12 years old with fatty liver. Dad's latest triglyceride level (obtained 1 year ago) was ~3000. Dad also has a history of type 2 diabetes diagnosed at age 22, initially on metformin but now on insulin (however has not taken medication for a while as he no longers follows with a doctor). Father also with obesity. There are also multiple family members on father's side with diabetes. Paternal aunt passed away from complications from Lupus. Paternal uncle has problems associated with drug and alcohol abuse.

- Mother has multiple family members with drug/alcohol additction problems (maternal grandfather passed away yesterday from heroine overdose). Maternal grandmother in addition to substance addiction, also has prediabetes and decreased iron levels.

- Sister and paternal half sister are healthy.

Social History:

Lives at home with mother, father, full sister, and paternal half sister. Maternal grandfather passed away yesterday from overdose. Dad lost his job yesterday after leaving work to be with family. .

Physical Exam:

VSS

On exam, well appearing, well nourished.

No obvious xanthomas.

Normal cardiac exam.

No obvious hepatomegaly.

Lipemia Retinalis on optho evaluation.

Labs:

10/04/18

UA normal

Na 141

K n 5.1

Cl 107 )

CO2 2.0

Glucose Meter 54

TC "Unable to obtain value; Lipemic"

TG "Unable to obtain value; Lipemic"

HDL 5

VLDL Unavailable (Ref. Range - <41)

LDL Direct Measurement 20

Radiology:

Ultrasound abdomen complete:

The liver shows diffusely increased echogenicity throughout the liver  parenchyma highly concerning for hepatic steatosis. No focal liver lesion seen. No intrahepatic biliary dilation seen.

The gallbladder is well distended and unremarkable. No gallstone, gallbladder wall thickening or pericholecystic fluid collection. The common bile duct 1.3 mm and is non-dilated.

The visualized pancreas is unremarkable..

The spleen measures 4.4 cm in length, normal for patient age. No focal lesion seen.

Ultrasound retroperitoneum:

The right kidney measures 5.8 cm in length. The left kidney measures 5.8 cm in length.

Both kidneys show evidence of echogenic appearance of the renal pyramids bilaterally. The increased echogenicity is seen involving almost all the renal pyramids of both kidneys symmetrically.

Urinary bladder: The urinary bladder is empty limiting its evaluation.

No free fluid seen in the visualized abdomen or pelvis.

IMPRESSION:

Ultrasound abdomen complete:

1. Diffusely echogenic appearance of the liver parenchyma consistent with hepatic steatosis.

2. No focal liver lesion.

3. Otherwise unremarkable ultrasound appearance of the abdomen complete

Ultrasound retroperitoneum complete:

1. Echogenic appearance of the renal parenchyma bilaterally symmetrically involving both kidneys. The differential considerations

include Tamm-Horsfall proteinuria which is otherwise expected to resolve in 4 weeks. Alternatively other possibilities include early

nephrocalcinosis. Also, given the working diagnosis of congenital hyperlipidemia, possibility of nephrotic syndrome as an underlying

cause is raised.

5 week old male with lipemic blood, fatty liver and lipemia retinalis.

Questions for the group:
1. Recommendations for obtaining accurate lipid levels in a newborn with lipemic blood.

2. Treatment recommendations. Plasma exchange?

3. Recommendations for starting treatment without an initial TG level although sounds like primary hypertriglyceridemia (LPL deficiency).

4. Recommendations for lipemia retinalis/fatty liver in a child so young.

THANK YOU!

Brenda Mendizabal

Children's Hospital of Pittsburgh

Pediatric Preventive Cardiology