Page 363 - Abstract Book KONIKA 18

Nutrition & Metabolic Diseases

P–NMD–011
Type III B Mucopolysaccharidosis in A 14-year-old Girl: A Case Report

Fanny Arcelia, Winra Pratita , Tiangsa Sembiring
Department of Child Health, Faculty of Medicine Universitas Sumatera Utara/H. Adam Malik General Hospital, Me-
dan, North Sumatera, Indonesia
Abstract
Background Mucopolysaccharidosis (MPS) is a heterogeneous and progressive inherited metabolic
disorders in the form of acquired lysosomal storage disorders that are clinically characterized by multiple
organ system abnormalities and can reduce life expectancy. Objective To report the progressivity of MPS
type IIIB in a 14 years old girl diagnosed based on the clinical and enzyme examination. Case A 14-year-
old girl came to Nutrition and Metabolic Diseases outpatient clinic with complaints of regression in social
and cognitive development since 5 years old.Patient initially had age-appropriate growth and development
until she showed significant clinical symptoms starting at the age of 5 years, which began with changes
in gait followed by speech and communication regression without history of previous trauma or seizures.
Coarse facies, thickening lips, and thick eyebrows, with asymmetrical chest and lordosis were noticed by the
patient's parents from the age of 12 years. Claw hands were found in both extremities, and the muscles were
atrophic and spastic. Radiological examination showed a J-shaped sella tursica, unerupted molars, scoliosis
and developmental disturbances in the acetabulum which indicated a state of multiple dysostosis. Enzyme
examination showed an increase in the excretion of GAG in the urine and a deficiency of α-Hexosaminidase
(α-N-acetylglucosaminidase) which indicated the diagnosis of MPS type IIIB. Conclusion Patient with
history of social and cognitive regression and showed coarse facial features should be considered in patient
with metabolic disorders especially mucopolysaccharidosis.
Keywords: Mucopolysaccharidosis; MPS type III; coarse facies; α-Hexosaminidase

P–NMD–012
X-linked Adrenoleukodystrophy in A 10-year-old Boy

Hensen, Winra Pratita,Tiangsa Sembiring
Child HealthDepartment, Faculty of Medicine, Universitas Sumatera Utara/Haji Adam Malik Hospital,
Medan, North Sumatera, Indonesia
Abstract
Background X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused
by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved
in the transmembrane transport of very long-chain fatty acids (VLCFA). A defect in ALDP results in elevated
levels of VLCFA, leads to a rapid progressive inflammatory demyelination in the brain. Objective To report
a case of X-ALD which diagnosed based on the result of contrast-enhanced MRI brain and serum VLCFA.
Case A 10 years 7 months old boy, was referred to nutritional and metabolic disease clinic with paralysis
of whole body which presented for 6 months. Patient initially suffered hearing and attention deficit on 18
months ago, followed with blurred vision, disturbance in walking and writing, with total vision lost in 6
months. Contrast-enhanced MRI brain showedextensive white matter lesion. Serum VLCFA showed decrease
of docosanoic acid (C22) at 30.43 umol/L, andincrease of hexacosanoid acid (C26) at 4.74 umol/L, and
ratio C26/C22 at 0.16. The result was consistent with radiography and biochemical diagnosis of X-ALD.
Patient was planned to perform molecular testing for ABCD1 gene. Conclusion Most patient with X-ALD
are diagnosed in advanced stage. X-ALD should be considered in patient with neurological regression who
used to be normal.
Keywords: X-linked adrenoleukodystrophy; very long-chain fatty acids

KONIKA XVIII Abstract Book 315