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| CASE REPORT |
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| Year : 2018 | Volume
: 64
| Issue : 4 | Page : 247-249 |
Neonatal hyperlipidemia with pancreatitis: Novel gene mutation of lipoprotein lipase
MH Shah1, R Roshan2, R Desai1, SS Kadam1
1 Division of Neonatology, Department of Pediatrics, King Edward Memorial Hospital, Pune, Maharashtra, India
2 Department of Clinical Hematology, Sahyadri Specialty Hospital, Pune, Maharashtra, India
Correspondence Address:
Dr. S S Kadam
Division of Neonatology, Department of Pediatrics, King Edward Memorial Hospital, Pune, Maharashtra
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jpgm.JPGM_731_17
Lipoprotein lipase (LPL) deficiency is an autosomal recessive metabolic disorder with varying presentation in infancy and childhood, whereas clinical manifestations are rare in neonatal period. The estimated prevalence is one in a million births. A 23-day-old baby was admitted with complaints of fever, vomiting, and lethargy. Blood sample drawn appeared lipemic. Lipemia retinalis was noted on funduscopic examination. Biochemical analysis revealed abnormal lipid profile with severe hypertriglyceridemia (10,300 mg/dL) and elevated serum lipase level (517 IU/L) indicative of LPL deficiency with acute pancreatitis. LPL deficiency was suspected and was confirmed by molecular genetic testing, which revealed a novel mutation in LPL gene. Dietary management and gemfibrozil were started following which serum triglyceride level decreased and serum lipase level normalized. The patient is following up regularly for growth and development monitoring.
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