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 176
- Downloads 0
Reversible Hypertensive Encephalomyelopathy Syndrome
No summary
Recurrent Painful Ophthalmoplegic Neuropathy: A Case Report with Five Episodes
Here, we describe an extraordinary case of a 38-year-old male patient with five recurrent episodes of ophthalmoplegia preceded by unilateral migraine-like headaches. He reported recurrent episodes of third cranial nerve...
Distribution Patterns and Publishing Rates of Oral Presentations Presented in National Neurology Congresses According to Diseases Between 2000-2017
Objective: Congresses are important for physicians to access up-to-date information. The papers presented in congresses provide access to current research topics in the field in a short time. In this study, we aimed to i...
Balance and Gait Impairment in Persons with Multiple Sclerosis with the Absence of Clinical Disability
Objective: Impaired balance is one of the most important risk factors for falls in persons with multiple sclerosis (pwMS). The aim was to evaluate balance and gait performance in pwMS with the absence of clinical disabil...
Cockayne Syndrome as a Rare Cause of Hemiplegia: Review of the Literature Accompanied by a Case Report
Cockayne syndrome is a rare genetic disease that presents with growth retardation, premature aging, retinal and generalized neurologic abnormalities. The presented case is a 29-year-old male patient, who was previously d...