Page 359 - Abstract Book KONIKA 18

Nutrition & Metabolic Diseases

P–NMD–003 (Prime e-Poster)
Outcomes of Acute Lymphoblastic Leukemia Children
with Malnutrition in Prof. DR. R.D. Kandou Hospital Manado

Meirin Fatmawati Lukum, Ronald Rompies, Adrian Umboh
Department of Child Health, Faculty Medicine, Universitas Sam Ratulangi/Prof Dr. R. D. Kandou Hospital,
Manado, North Sulawesi, Indonesia

Abstract
Background Acute lymphoblastic leukemia (ALL) is the most frequent cancer in children. Early diagnosis
and treatment of malnutrition affects the clinical outcome, the quality of life, and the overall survival of the
patient. Objective To evaluate the nutritional status of ALL patients. Methods This is a cross-sectional study
of 124 ALL patients aged < 18 years treated at Estella Clinic, Prof DR. R. D. Kandou General Hospital,
Manado from January 2017 to December 2020.Weight and height data were plotted into WHO weight for
height curve or CDC stature for age and weight for age based on the age of the subjects. The data were
interpreted according to WHO or Waterlow criteria. Results Out of 124 ALL patients, 2 of 124 patients
(1.61%) were overweight, 18 of 124 patients (14.5%) were severely wasted, 70 of 124 patients (56.4%)
were underweight, and 34 of 124 patients (27.4%) were normal weight in the time of first admission.
Severely wasted and underweight patient had higher odds for prolonged hospital stay [OR2.54, 95%CI 1.05
to 6.12); P=0.03] and [OR1.31, 95%CI 1.07 to 1.62); P=0.04] respectively. Logistic regression analysis
showed that there was association between nutritional state and death [RR 2.34, 95%CI 1.01 to 5.45)].
Conclusion Majority of ALL patients in Manado have malnutrition. Patients with malnutrition have longer
length of stay in hospital. Nutritional status is associated with death of ALL children.
Keywords: acute lymphoblastic leukemia; nutritional status; malnutrition

P–NMD–004
Heterozygous Pathogenic Mutation in PLA2G6 Gene causing Infantile
Neuroaxonal Dystrophy in 2-year-old Girl: Case Report
Debby Nur Rachmawati, Alifiani Hikmah P., Maria Mexitalia, Rina Pratiwi
Department of Child Health, Faculty of Medicine Diponegoro Universitas/Dr. Kariadi General Hospital,
Semarang, Central Java, Inodnesia
Abstract
Background Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder, with onset in
first or second year of life, caused by mutations in the PLA2G6 gene. The disease presents with psychomotor
regression (i.e., loss of previously acquired milestones) such as delayed walking or gait disturbance.
Objective To report a case with heterozygous mutation in the PLA2G6 geneand provide description
of history of illness, clinical, radiologicaland molecular findings. Case A 2-year-old girl was referred
from a local hospital with seizures since age of18months. The seizures didn’t show any improvement
withanticonvulsants. On physical examination, there was nystagmus and spasticity. The cranial MRI result
was bilateral symmetrical hyperintense lesion on globus pallidus which was suspected an inborn error of
metabolism. Development regression presented after re-anamnesis. She could crawl, practice for walking,
and call her mother at 15-month-old. After that she couldn't crawl, nor talk anymore, she just cried. Her
sister also had similar symptoms and passed away at the age of five. We found no consanguinity. There
was no abnormality in basic metabolic screening. On genetic examination, there was mutation in PLA2G6
gene suitable with INAD. Conclusion Inborn errors of metabolism arerare disorders, clinicians should be
concerned if there are developmental regression, any consanguinity, family history with same disorder in
the similar generation or family members passed awayas a child, for no clear reasons.
Keywords: inborn error of metabolism; infantile neuroaxonal dystrophy.

KONIKA XVIII Abstract Book 311