Page 368 - Abstract Book KONIKA 18

Nutrition & Metabolic Diseases

P–NMD–021
Leigh Syndrome with SURF1 Gene Mutation in A 7-year-9-month-old boy:
A Case Report

Winra Pratita, Tiangsa Sembiring, Kamsiah
Department of Child Health, Faculty of Medicine Universitas Sumatera Utara/Adam Malik General Hospital,
Medan, North Sumatera, Indonesia

Abstract
Background Leigh syndrome (Leigh's disease, subacute necrotizing encephalomyelopathy) is a neurometabolic
disorder that affects the central nervous system. Leigh syndrome (LS) is a mitochondrial disease which is
often found in children. This syndrome is considered as a unique progressive neurodegenerative disease with
neuropathological lesions in the basal ganglia, brain stem, and occasionally in other structures of the central
nervous system. Objective To report a 7-year-9-month-old boy presenting with Leigh syndrome with the
SURF1 gene mutation. Case DR, boy, age 7 years and 9 months came to Nutrition and Metabolic Diseases
oupatient clinic with the main complaint could not walk since the age of 4 years. The feet and hands was stiff.
At the age of 3 to 4-year-old, parents realized different gait of walking or running. Previously patients could
speak and communicate well, but after the age of 4 years, the speech was increasingly unclear. Involuntary
movements was found. History of seizures and trauma was not found. Parent consanguinity was not found.
No history of the same disease in the family. Normal bowel and bladder impression. Conclusion Leigh
syndrome is a neurometabolic disorder caused by SURF1 gene mutation with a deficiency of cytochrome C
oxidase (COX). Genetic analysis of patients showed a result of Pathogenetic and likely pathogenetic variants
were identified in the SURF1 gene. There is no specific therapy for most other variants of Leigh syndrome.
Treatment is primarily symptomatic.
Keyword: Leigh syndrome; SURF1 gene mutation

P–NMD–022
Case Report of Two Patients with Mucopolysaccaharidoses Type II
(Hunter Syndrome) in Haji Adam Malik General Hospital

Winra Pratita, Tiangsa Sembiring, Claudy Bunga Saing
Departement of Child Health, Faculty of Medicine Universitas of Sumatera Utara/Haji Adam Malik General Hospital,
Medan, North Sumatera, Indonoesia

Abstract
Background Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a group of rare
metabolic disorders characterized by a deficiency of iduronate 2-sulfatase (IDS) enzyme in the degradation
of glycosaminoglycans. MPS II is a rare X-linked recessive disorder. It has an early age of onset with
clinical symptoms involving multiple organ systems. Objective To highlight the distinctive manifestation of
MPS type II. Case First case, a 7 year old boy had started decreased ability to walk. Previously the patient
was able to walk since he was 15 months old. The clinical features included coarse face, joint stiffness,
short stature, and mental retardation. He had a history of repeated upper respiratory tract infection. Family
history of the same clinical manifestation was found, his two older brother have already passed away.
Second case, a 11 years old boy was consulted by neurosurgeon with hydrocephalus and suspected crouzon
syndrome for nutrition intake. He had history of sleep snoring and reccurent hernia surgery. Both patients
underwent bone survey, echocardiography, glycosaminoglycan (GAG) urine and enzyme analysis. They
had the result of elevated GAGs excretion in urine and iduranate sulfatase deficiency. Both patients were
diagnosed with MPS type II and their parents were given education and explanation of the patient's prognosis.
Conclusion This two case reports will increase awareness of clinical manifestation of Mucopolysaccharidosis
type II and will help identify patient earlier in the course of disease.
Keywords: mucopolysacchardosis type II; hunter syndrome; glycosaminoglycan; iduronate-2
sulfatase

320 KONIKA XVIII Abstract Book