Page 362 - Abstract Book KONIKA 18

Nutrition & Metabolic Diseases

P–NMD–009
Primary Hypertrigliceridemia in Children
with Familial Chylomicronemia Syndrome: A Case Report

Dewi Jumantan, Irma Sri Hidayati, Neti Nurani, Endy P. Prawirohartono.
Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/
Dr. Sardjito General Hospital, Yogyakarta, Central Java, Indonesia

Abstract
Background Familial chylomicronemia syndrome (FCS) is a rare genetic disease characterized by severe
hypertriglyceridemia that presents with lipemic blood. The incidence is 1 per 2.000.000 globally. Early
diagnosis and treatment are essential to prevent its severe complications. Objective To report a very rare
case of FCS. Case An 11-month-old girl presented with history of fever that accidentally have milky blood
on laboratory examination. She had no other symptoms. Previously she had triglyceride serum level of
1170 mg/dL. Lipid profile of both parents showed high for triglyceride and cholesterol levels. Physical
examination was within normal limit. Laboratory examination showed triglycerides level was 1745 mg/dL,
cholesterol level was 207 mg/dl and triglyceride total cholesterol ratio was 8.68 mg/dL (>5 mg/dL).There was
normal abdominal ultrasound and funduscopic examination indicated no lipemia retinalis. Genetic analysis
has not been done due to limited financial background of the family. The diagnosis was FCS based on the very
high triglyceride levels and a significant familial history. We treated the patient with fish oil supplementation
and diet modification including temporary discontinuation of breast feeding. She was given a medium-chain
triglyceride (MCT) formula and low fat complementary food. After seven days, the triglyceride level declined
to 531 mg/dL and patient was discharged. After one year follow up the last triglyceride level was 186.5 mg/
dl. The patient had normal growth and developmental status. Conclusion Lipemic blood is pathognomonic
of FCS. Early diagnosis and intervention of FCS will produce better outcome.
Keywords: chylomicronemia; hypertriglyceridemi; medium-chain triglyceride; low fat
complementary food

P–NMD–010
Respiratory Problem in A Child with Late-Onset Pompe Disease:
Frst Case in Indonesia

1
Dwi Ambar Prihatining Utami , Wahyuni Indawati , Cut Nurul Hafifah , Novitria Dwinanda ,
1
1
2
Damayanti Rusli Sjarif 1
1
Department of Child Health, Faculty of Medicine, Universitas Indonesia/Dr. Cipto Mangunkusumo General Hospital
2
and Harapan Kita Women and Children Hospital , Jakarta, Indonesia
Abstract
Background Pompe disease is an autosomal-recessive disorder caused bylysosomal acid alpha-glucosides
deficiency.Glycogen accumulation in the respiratory muscle may cause life-threatening complications.
Objective To describe the management of the respiratory problems in patient with Pompe disease and their
response after undergoing enzyme replacement therapy (ERT). Case A 3-year-old-boy was diagnosed with
late-onset Pompe disease based on decreased levels of acid alpha-glucosidase enzyme and genetic testing.
Initially, he experienced muscle weakness as he started walking unsteadily (age: 18 months). There were
recurrent respiratory infections and weakness of respiratory muscle with respiratory failure (age: 27 months).
It prompted the use of invasive ventilation for 4 months with failed weaning attempt. He underwent tracheal
intubation and mechanical ventilation (age: 31 months). He was referred to Cipto Mangunkusumo General
Hospital to received ERT. Weekly therapy of 20 mg/kg recombinant human α-glucosidase was given
since the age of 39 months. During ERT, home ventilator support could be reduced to gradually within
2months with continuous positive airway pressure. Spontaneous breathing via tracheostomy with oxygen
supplementation 45-60 minutes daily. The respiratory problems that occur were secondary tracheomalacia,
mucus plug, atelectasis (treated by bronchoscopy), granulation-tissue formation (treated by cryotherapy), and
long-term complications of tracheostomy (e.g. clotting). The patient is now using home-ventilator support
(mode synchronized intermitten mandatory ventilation, pressure 14/6, RR 25 bpm, FiO 23%). Conclusion
2
Late-onset Pompe disease is associated with respiratory insufficiency. Adequate intervention will manage
respiratory problems and lead to the survival of this patient.
Keywords: pompe disease; respiratory problems; children; late-onset

314 KONIKA XVIII Abstract Book