A Rare Cause of Spasticity and Microcephaly: Argininemia
Journal Title: Turkish Journal of Neurology - Year 2020, Vol 26, Issue 3
Abstract
Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase. Our first case presented with psychomotor retardation, difficulty of walking, and progressive tiptoeing. Laboratory investigations revealed mildly elevated hepatic enzymes and elevated plasma arginine concentration. Molecular genetic analysis was performed for suspected argininemia and a novel homozygous mutation c. 231C> A (p. S77R) was detected in the ARG1 gene. The second patient was admitted because of poor head control when he was aged 6 months. Microcephaly was detected in his physical examination, and basic metabolic tests were studied. Elevated levels of plasma arginine and orotic acid in urine organic acid analysis were compatible with argininemia. A homozygous mutation c.703G> C (p. G235R) was detected in the ARG1 gene and the diagnosis was confirmed. Arginineemia is a rare cause of progressive spastic diplegia. Patients may be mistakenly diagnosed as having cerebral palsy. Microcephaly may be the initial clinical finding of the disorder.
Authors and Affiliations
Pembe Soylu Ustkoyuncu, Mustafa Kendirci, Songul Gokay, Fatih Kardas, Hakan Gumus, Hüseyin Per, Hatice Gamze Poyrazoglu, Ayşe Kaçar Bayram, Mehmet Canpolat, Sefer Kumandas
Keywords
Related Articles
- EP ID EP689429
- DOI 10.4274/tnd.2020.97752
- Views 172
- Downloads 0
Cerebral Venous Thrombosis Can Be Followed by Electroencephalography: Accompanied By a Case Discussion
no summary
Isolated Third, Fourth, and Sixth Cranial Nerve Palsies in the Turkish Population: Etiologic Factors and Clinical Course
Objective: To determine the etiologic factors and clinical profile of isolated third, fourth, and sixth nerve palsies in neuro-ophthalmology outpatient clinics of two different reference centers. Materials and Methods:...
Update on Therapeutic Strategies for Atypical Parkinsonian Syndromes
Atypical Parkinsonian syndromes include multiple systems atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and dementia with Lewy bodies (DLB). These conditions show signs of dopamine...
Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy
Objective: To indicate the benefits of the screening of inherited metabolic disorders in patients with epilepsy, global developmental delay, and intellectual disability. Materials and Methods: The medical records of 110...
Evaluation of Patients Diagnosed as Having Acute Stroke in the Emergency Department: Two-year Analysis
Objective: To investigate the etiologic, demographic, and clinical features of patients who were diagnosed as having acute stroke in the emergency department and thus, we aimed to contribute to the stroke data of our cou...