Acute motor axonal neuropathy and transverse myelitis overlap: the importance of history taking.

In young adults, acute motor axonal neuropathy and transverse myelitis rarely occur as associated conditions. Clinical reasoning, symptoms, laboratory and ancillary investigations (electroneurographic and radiological findings), should properly address the physician to the correct diagnosis.

PDCD10 gene mutations in multiple cerebral cavernous malformations.

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% of hereditary cerebral cavernous malformations. Our group investigated 87 consecutive Italian affected individuals (i.e. positive Magnetic Resonance Imaging) with multiple/familial CCM through direct sequencing and Multiplex Ligation-Dependent Probe Amplification (MLPA) analysis. We identified mutations in over 97.7% of cases, and PDCD10/CCM3 accounts for 13.1%. PDCD10/CCM3 molecular screening revealed four already known mutations and four novel ones. The mutated patients show an earlier onset of clinical manifestations as compared to CCM1/CCM2 mutated patients. The study of further families carrying mutations in PDCD10/CCM3 may help define a possible correlation between genotype and phenotype; an accurate clinical follow up of the subjects would help define more precisely whether mutations in PDCD10/CCM3 lead to a characteristic phenotype.

Capsular warning syndrome mimicking a jacksonian sensory march.

A 57-year-old man, operated eight years before for a left frontal falx meningioma, presented with short lasting, stereotyped episodes of paresthesias ascending from the right foot to the hand. A diagnosis of somatosensory seizures with jacksonian march was made. The patient was given antiepilectics but 5 days later, a few hours after another paresthesic episodes, he developed right hemiplegia, hemianesthesia and dysartria due to an infarct of left capsular posterior limb. We deem that in this patient the paresthesic episodes were more likely an expression of a capsular warning syndrome than of parietal epilepsy because of the frontal localization of the surgical lesion, the absence of motor components in all episodes, the negativity of repeated EEG, and the lack of recurrences after stroke. In capsular warning syndrome sensory symptoms mimicking a jacksonian march can be due to ischemic depolarization progressively recruiting the somatotopically arranged sensory fibers in the posterior capsular limb.

Persistent multifocal conduction block in vasculitic neuropathy with IgM anti-gangliosides.

A 30-year-old man with essential cryoglobulinemia presented with an axonal neuropathy and was found to have vasculitis at nerve biopsy. After 44 months, in accord with clinical deterioration, motor conduction studies showed excessive temporal dispersion multifocally, with partial conduction block persisting for 3 years. Antibody testing showed the presence of IgM anti-GM1, anti-GD1a, and anti-GM2 antibodies. Transitory conduction block has been reported occasionally in patients with vasculitis. The persistent multifocal conduction abnormalities found in this patient were more likely due to a superimposed immunomediated demyelination rather than to chronic nerve ischemia secondary to vasculitis.