Severe epilepsy in X-linked creatine transporter defect (CRTR-D).
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).
Mancardi
Maria Margherita
MM
Department of Child Neuropsychiatry, Epilepsy Unit, G. Gaslini Institute, Genoa, Italy.
Caruso
Ubaldo
U
Schiaffino
Maria Cristina
MC
Baglietto
Maria Giuseppina
MG
Rossi
Andrea
A
Battaglia
Francesca Maria
FM
Salomons
Gajja Sophi
GS
Jakobs
Cornelis
C
Zara
Federico
F
Veneselli
Edvige
E
Gaggero
Roberto
R
D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000378:metabolism; D002675:Child, Preschool; D003401:Creatine / Q000235:genetics; D004569:Electroencephalography / Q000706:statistics & numerical data; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D050172:Genes, X-Linked / Q000235:genetics*; D006801:Humans; D017136:Ion Transport / Q000235:genetics; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D038901:X-Linked Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000235:genetics*; D012720:Severity of Illness Index
D000927:Anticonvulsants; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human; C080679:creatine transporter; D003401:Creatine