1.
Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation.
Stam, AH, Luijckx, GJ, Poll-Thé, BT, Ginjaar, IB, Frants, RR, Haan, J, Ferrari, MD, Terwindt, GM, van den Maagdenberg, AM
Journal of neurology, neurosurgery, and psychiatry. 2009;(10):1125-9
-
-
Free full text
-
Abstract
OBJECTIVE To study the clinical spectrum of CACNA1A S218L mutation carriers with special attention to "early seizures and cerebral oedema after trivial head trauma (ESCEATHT)", a combination of symptoms which resembles the "juvenile head trauma syndrome". PATIENTS AND METHODS In two patients with ESCEATHT all exons of CACNA1A were sequenced. Both patients also had hemiplegic migraine and ataxia. Subsequently, we screened the literature for S218L mutation carriers. RESULTS In both patients, a de novo S218L mutation in the CACNA1A gene was found. In addition, we identified 11 CACNA1A S218L carriers from the literature. Of these 13 S218L mutation carriers, 12 (92%) had ataxia or cerebellar symptoms and nine (69%) had hemiplegic migraine that could be triggered by trivial head trauma. Three mutation carriers had the complete ESCEATHT phenotype. Seven (54%) had seizures (four had early post-traumatic seizures) and five (38%) had oedema as detected by MRI/CT. CONCLUSIONS The CACNA1A S218L mutation is associated with familial hemiplegic migraine, ataxia and/or ESCEATHT. A minority of S218L mutation carriers have the complete ESCEATHT phenotype but a high percentage of patients had one or more ESCEATHT symptoms. As the S218L mutation enhances the propensity for cortical spreading depression (CSD), we postulate a role for CSD not only in hemiplegic migraine but also in early seizures and cerebral oedema after trivial head trauma. As this combination of symptoms is part of the unexplained "juvenile head trauma syndrome", a similar molecular mechanism may underlie this disorder.
2.
Glutaric aciduria type 1 presenting as bilateral subdural hematomas mimicking nonaccidental trauma. Case report and review of the literature.
Bishop, FS, Liu, JK, McCall, TD, Brockmeyer, DL
Journal of neurosurgery. 2007;(3 Suppl):222-6
Abstract
Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder with characteristic neuroimaging and clinicopathological features. The authors describe a case of GA1 in a 7-month-old girl presenting with macrocephaly and bilateral subdural hematomas (SDHs) who was initially evaluated for nonaccidental trauma (NAT). Bilateral subdural drains were placed because of significant mass effect from the chronic SDHs, with subsequent neurological and neuroimaging-documented improvement. Clinical and neuroimaging findings led to further laboratory investigation to confirm the diagnosis of GA1, after which a specialized low-protein diet was initiated. After a thorough investigation, NAT was ruled out. At the follow-up examination, the patient experienced improvement in her symptoms and resolution of the bilateral subdural collections. The presence of bilateral SDHs in an infant raises the suspicion of NAT and presents a difficult diagnostic challenge because of the legal and social implications. Glutaric aciduria type 1 should be considered in the differential diagnosis of bilateral SDHs, and an evaluation should be performed. The authors review the clinical manifestations, diagnosis, medical and surgical management, and specific considerations regarding GA1, including misdiagnosis of NAT.
3.
Pneumatosis intestinalis (PI) following severe traumatic brain injury.
Kim, CT, Kim, H, Wechsler, B, Kim, SW
Brain injury. 2005;(12):1059-61
Abstract
PRIMARY OBJECTIVE To report a case of pneumatosis intestinalis complicated with sorbitol containing medicines. RESEARCH DESIGN Case report. METHODS AND PROCEDURES Clinical course and literature review. EXPERIMENTAL INTERVENTIONS Chart review. MAIN OUTCOMES AND RESULTS Large amount of sorbital may cause a reversible gastrointestinal complication, pneumatosis intestinalis. CONCLUSIONS In the assessment of enteral abnormalities, all components of medications, active and 'inactive', must be evaluated as possible aetiological factors of pneumatosis intestinalis.