A Rare Cause of Spasticity and Microcephaly: Argininemia

• DOI: 10.4274/tnd.2020.97752
• Publication Date: 2020-10-13T13:16:36Z
• Authors: Pembe Soylu Üstko...; Mustafa Kendirci; Songül Gökay; Fatih Kardaş; Hakan Gümüş; Hüseyin Per; Hatice Gamze Poyr...; Ayşe Kaçar Bayram; Mehmet Canpolat; Sefer Kumandaş
• Keywords: Microcephaly; Spastic diplegia; Spastic quadriplegia; Compound heterozygosity

Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase.Our first case presented with psychomotor retardation, difficulty walking, and progressive tiptoeing.Laboratory investigations revealed mildly elevated hepatic enzymes plasma arginine concentration.Molecular genetic analysis was performed for suspected argininemia a novel homozygous mutation c. 231C> A (p. S77R) detected in ARG1 gene.The second patient admitted because poor head control when he aged 6 months.Microcephaly his physical examination, basic metabolic tests were studied.Elevated levels orotic acid urine organic compatible argininemia.A c.703G> C G235R) gene diagnosis confirmed.Arginineemia rare cause spastic diplegia.Patients may be mistakenly diagnosed as having cerebral palsy.Microcephaly initial clinical finding disorder.