Page 366 - Abstract Book KONIKA 18

Nutrition & Metabolic Diseases

P–NMD–017
Characteristics of Patients with Enteral Nutrition Support
at Nutrition and Metabolic Disease Outpatient Clinic
in Harapan Kita National Women and Children Hospital

Novitria Dwinanda, Tinuk A. Meilany
Child Health Department, Nutrition and Metabolic Disease Division, PKIAN RSAB Harapan Kita,
Jakarta, Indonesia
Abstract
Background Enteral nutrition support (ENS) is an important technique to deliver nutrition to children who
have chronic conditions. Indication enteral nutrition is when energy and nutrient requirement cannot be met
by regular food intake. Objective To describe a nutritional characteristics, indications for tube insertion,
device selection, complications, and nutritional improvement of patients with enteral tube feeding in
outpatient Methods A retrospective cohort study of patients with ENS and visited Nutrition and Metabolic
Disease Outpatient Clinic in Harapan Kita Woman and Children Hospital between June-December 2020.
Physical growth and nutritional status were evaluated. Exclusion criteria was incomplete data for 4 weeks.
Results One hundred and forty-one patients (mean age 9 months) were diagnosed have insufficient oral intake
which their nutritional status was 57% with very wasting, 54% very stunting, and 54% severely malnourished.
The indication disorder of oral feeding (45%) includes abnormal sucking, swallowing, congenital
abnormalities of the upper gastrointestinal tract, laryngomalacia; congenital heart disease (28%); chronic
neurologic disease (16%); and abnormalities of the gastrointestinal (11%) include congenital gastrointestinal
tract and disorder of digestion and/or absorption. Naso-gastric access with bolus feeding is used for all
subjects. The mean weight velocity subjects after ENS was 35 gram/day. The most common complication
of enteral nutrition support is related to devices (87%) that clogging-dislodged and gastrointestinal factors
(65%) include discomfort, bloating, nausea, and regurgitation. Conclusion Enteral nutrition is the preferred
method of nutritional supplementation if sufficient calories are not available in oral feeding. Complication
should be minimized through careful attention and regular monitoring.
Keywords: enteral feeding support; malnutrition; chronic condition

P–NMD–018
PLA2G6-Associated Neurodegeneration: An Ultra-Rare Case
of Neurodegeneration with Brain Iron Accumulation in a Child

Nurani Widianti, Nur AisiyahWidjaja, Meta Herdiana Hanindita, Roedi Irawa
Department of Child Health, Faculty of Medicine Universitas Airlangga/Dr.Soetomo General Hospital,
Surabaya, East Java, Indonesia
Abstract
Background PLA2G6-associated neurodegeneration (PLAN) is the ultra-rare case worldwide with an
incidence of less than 0.5/1000000. PLAN is a major feature of autosomal recessive neurodegeneration
with brain iron accumulation (NBIA) included in a group of inherited metabolic diseases. This case is the
first for being reported in Indonesia. We describe the clinical features, neuroimaging findings, and PLA2G6
mutations identified in this patient. The diagnostic challenges associated with the PLAN subtype are highlights
in this report. Objective To provide an overview of PLAN. Case A 2-year-old girl came to Dr. Soetomo
Hospital's outpatient clinic, Surabaya, with a developmental regression for six months and gotten worse
until she could not do any activity. It was followed by a seizure. She had a sibling who had similar signs
and symptoms then died at five years old. The head MRI revealed brain atrophy, the possibility of an early
sign of metabolic disorder, and white matter lesion at globus pallidus bilateral that support encephalopathy
metabolic view. The genetic test revealed a positive result homozygous likely pathogenic variant in the
PLA2G6 gene, which confirmed the diagnosis. Conclusion It is important to consider PLAN as a diagnosis
in children with developmental regression.
Keywords: developmental regression; PLA2G6; neurodegeneration with brain iron accumulation;
NBIA; PLAN; inherited metabolic diseases

318 KONIKA XVIII Abstract Book