2) Retrospective Diagnosis of Lysosomal Acid Lipase Deficiency

PACHECO MARIA GABRIELA; ROSANA FILTRÍN; SRA. CORINA DLUGOSZEWSKI; SRA. ESTELA CAMPOS; ROZENFELD PA

Congreso; : X Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal; 2015

Sociedad latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal

With Wolman's disease there is a deficit of the enzyme known as lysosomal acid lipase. Symptoms appear within the first few days or weeks of life, such as vomiting, diarrhea and the rapid progress of cachexia with hepatosplenomegaly and anemia. It is characterized by hypercholesterolemia, hypertriglyceridemia, HDL deficiency and abnormal lipid deposits in the organs. Most patients die within the first 6 months of life.MATERIAL AND METHODSObservational, descriptive and retrospective study. Digitized clinical history.RESULTSCASE l:Gestation: 2 Births: Abortion: 1 Couple not inbred.Male; weight 1300 g; Gestational age: 35 weeksClinical decompensation after 8 days: neonatal sepsis and suspected necrotizing enterocolitis with poor outcome; liver and kidney failure. Candida is found in the urine and is treated with antibiotics and antifungals. Lab test results find hypertriglyceridemia, cholestasis and anemia. Severe malnutrition, dies at 44 days of life. CASE II:Gestation: 4, caesarean at 39 weeks Male; weight 1240 g; vigorous at birth; brother of previous clinical case; in neonatal unit for 43 days due to intrauterine growth restriction. On day 11 develops Klebsiella pneumoniae sepsis. Gastroesophageal reflux. Neonatal screening normal. OEA absent in both ears. 2nd hospital admission at 3 months due to convulsions and microcephaly. CT scan normal. Begins treatment with anticonvulsants with good results. 3rd hospital admission at five months due to second degree dehydration caused by vomiting. Chronic malnutrition, severe RGE and Global developmental delay. Epilepsy; Anemia; Suspected Adrenal Insufficiency; Sepsis; Metabolic disorders: hyponatremia (129 mg/dl), hypertriglyceridemia from 270 mg/dl to 2263 mg/dl, GOT 117, GPT 210, GGT 507, low HDL (21 mg/dl), and hyperglycemia (301 mg/dl). Quik 71%. Hemoglobin of 9 mg/dl.Physical showed hepatosplenomegaly. Abdominal echo: hepatic steatosis. Patient is referred to a more complex hospital where he died 4 days later. Acid lipase deficiency is suspected post mortem and is later confirmed.CONCLUSIONSThis rare form of acid lipase deficiency should be suspected in newborns with IUGR with poor progress and gastrointestinal involvement with hepatomegaly, intestinal malabsorption, ascites, with or without calcification of the adrenal glands, growth disorders and dyslipidemia.