Akademik Veri Yönetim Sistemi
International Congress of Inborn Errors of Metabolism (ICIEM) 2025, Kyoto, Japonya, 2 - 06 Eylül 2025, (Yayınlanmadı)
Lysosomal Storage Disease Diagnosed in Adults with Hypoxic Ischaemic Encephalopathy: Fucosidosis Case Report
Emine Didem Demirdöken1, Pelin Teke Kısa1, Mehmet Kocabey2, Özlem Giray Bozkaya3, Ahmet Okay Çağlayan2 , Nur Arslan1
1Department of Pediatric Metabolic Diseases, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey, 2Department of Medical Genetics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey, 3 Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey
Introduction: Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by a mutation in the FUCA1 gene, resulting in α-L-fucosidase deficiency. Clinical findings include psychomotor regression, coarse facial features, growth retardation, recurrent upper respiratory tract infections, dysostosis multiplex, angiokeratoma corporis diffusum, epilepsy, inguinal hernia, and organomegaly. There is currently no definitive treatment available. In this report, we present a case of fucosidosis diagnosed in adulthood, which has been followed since infancy with a diagnosis of hypoxic-ischemic encephalopathy (HIE) and cerebral palsy, despite no history of perinatal asphyxia.
Case Report: Case 1: A 20-year-old female patient was followed in various specialties, primarily neurology and psychiatry, with diagnoses of hypoxic-ischemic encephalopathy (HIE), cerebral palsy, and autism spectrum disorder since infancy. Her perinatal history included brief cyanosis that did not require oxygen or airway support. She was first evaluated at four months for inability to hold her head up, and her symptoms were attributed to hypoxic-ischemic encephalopathy (HIE). Cranial MRI at 11 months showed symmetric signal increase and leukomalacia in the occipital periventricular white matter. The patient, who began walking at 2.5 years, had bilateral Achilles tendon surgery at 10 and hip surgery for internal rotation at 13. She was diagnosed with type 1 diabetes and had multiple dysostosis on radiographs. Whole exome sequencing revealed a homozygous c.1A>G (p.Met1?) variant in the FUCA1 gene. In the tests conducted after the diagnosis of fucosidosis, the alpha-fucosidase enzyme level was found to be 37.1 nmol/hour/mg protein (>40).Case 2: A 13-year-old female patient was followed from 4 months due to inability to lift her head, hypotonia, and coarse facial features. A normal cranial MRI at 4 months was followed by focal T2 signal increases interpreted as gliosis in the periventricular white matter at age 5. Diagnosed with autism at age 3, she underwent surgery for a right inguinal hernia at age 8. Following the diagnosis of fucosidosis in her older sister, investigations at age 13 revealed an alpha-fucosidase enzyme level of 20.6 nmol/hour/mg protein (>40) and a homozygous c.1A>G (p.Met1?) variant in the FUCA1 gene.
Discussion: Childhood patients with hypoxic-ischemic encephalopathy and cerebral palsy should be evaluated for underlying metabolic disorders. This study presents two such patients followed to adulthood, highlighting the relevance of investigating similar conditions in adults. Progression of clinical findings, systemic symptoms, organ involvement, sibling history, and consanguinity should raise suspicion of a metabolic disorder, warranting a thorough investigation.