Severe Epilepsy in X‐Linked Creatine Transporter Defect (CRTR‐D)

• Published in: Epilepsia (Copenhagen) 2007-06, Vol.48 (6), p.1211-1213
• Main Authors: Margherita Mancardi, Maria, Caruso, Ubaldo, Cristina Schiaffino, Maria, Giuseppina Baglietto, Maria, Rossi, Andrea, Maria Battaglia, Francesca, Sophi Salomons, Gajja, Jakobs, Cornelis, Zara, Federico, Veneselli, Edvige, Gaggero, Roberto
• Format: Article
• Language: English
• Subjects: Anticonvulsants - therapeutic use; Anticonvulsants. Antiepileptics. Antiparkinson agents; Biological and medical sciences; Brain - metabolism; Central nervous system; Central neurotransmission. Neuromudulation. Pathways and receptors; Child, Preschool; Creatine - genetics; Creatine transporter deficiency; Electroencephalography - statistics & numerical data; Epilepsy - diagnosis; Epilepsy - drug therapy; Epilepsy - genetics; Fundamental and applied biological sciences. Psychology; Genes, X-Linked - genetics; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Ion Transport - genetics; Magnetic Resonance Spectroscopy; Male; Medical sciences; Membrane Transport Proteins - genetics; Mental Retardation, X-Linked - diagnosis; Mental Retardation, X-Linked - genetics; Mutation - genetics; Nerve Tissue Proteins - genetics; Nervous system (semeiology, syndromes); Neurology; Neuropharmacology; Pharmacology. Drug treatments; Phenotype; Plasma Membrane Neurotransmitter Transport Proteins - genetics; Severe epilepsy; Severity of Illness Index; Vertebrates: nervous system and sense organs; X‐linked mental retardation
• ISSN: 0013-9580; 1528-1167
• DOI: 10.1111/j.1528-1167.2007.01148.x

Disorders of creatine synthesis or its transporter resulting in neurological impairment with mental retardation and epilepsy have only been recognized in recent years. To date, the epileptic disorder observed in creatine transporter deficiency (CRTR‐D) has been described as a mild phenotype with infrequent seizures and favorable response to common antiepileptic drugs. We report on a 5 year‐old boy with known speech delay who presented with severe and refractory epilepsy. After extensive investigations, metabolite analysis and brain 1H‐MRS suggested CRTR‐D, which was confirmed by the detection of a known pathogenic mutation in the SLC6A8 gene (c.1631C>T; p.Pro544Leu).