Macrocephaly and bitemporal arachnoid cysts not associated with glutaric aciduria type I in a child.
A 45-month-old child who had bitemporal arachnoid cysts and macrocephaly unrelated to glutaric aciduria type 1 (GA 1) was reported. The patient was admitted to the emergency unit after head trauma at 11 months of age. CT and MRI showed bitemporal arachnoid cysts (BACs). Acylcarnitine profile was normal in serum using tandem mass spectrometry. Urine and blood screening tests were within normal range for metabolic disorders. There were no unusual organic acids in urine and blood samples. No additional clinical findings of metabolic disorders such as GA 1 developed during follow-up. The majority of children affected with GA 1 have macrocephaly and BACs on CT or MRI. These signs should alert neurosurgeons to the possibility of GA 1. Neurosurgeons evaluating patients with head trauma or suspected non-accidental head injury should include GA 1 in the differential diagnosis of BACs associated with macrocephaly, and an evaluation should be performed.
Serarslan
Yurdal
Y
Mustafa Kemal University, Tayfur Ata Sökmen Medical School, Department of Neurosurgery, Hatay, Turkey. yserarslan@yahoo.com
Melek
Ismet Murat
IM
Sangün
Ozlem
O
Akçora
Bülent
B
Akdemir
Gökhan
G
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D016080:Arachnoid Cysts / Q000000981:diagnostic imaging / Q000473:pathology*; D006259:Craniocerebral Trauma / Q000000981:diagnostic imaging / Q000473:pathology*; D003937:Diagnosis, Differential; D050770:Glutaryl-CoA Dehydrogenase / Q000097:blood* / Q000652:urine; D006257:Head / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed
D050770:Glutaryl-CoA Dehydrogenase