Crossed cerebellar diaschisis in the setting of a convulsive status epilepticus: a rare clinical and radiological entity.

Crossed cerebellar diaschisis is a rare clinical entity of hemispheric cerebellar depression subsequent to a contralateral cerebral cortical lesion, described to be the result of excessive neuronal excitatory synaptic activity within cortico-cerebellar pathways. This event is generally observed in ischemic stroke cases, and only occasionally, it has been described in epileptic seizure disorders. In this report, we present the case of a patient admitted for status epilepticus with residual motor and visual deficit, with reduced diffusion at DWI. The clinical evolution of her case was distinguished by a full recovery of her deficits along with the disappearance of the MRI abnormalities.

Chorea paralytica: a videotape case with rapid recovery and good long-term outcome.

Chorea paralytica (or chorea mollis) is a very rare variant of Sydenham's chorea, characterized by a profound hypotonia, resulting in severe disability. Given the rarity of this condition, data on its prognosis are lacking. Most reports suggest that the delay from onset to recover total autonomy is long, usually several weeks to months which strongly affects the quality of life of these children. We report a videotape case of a 14-year-old girl, who became rapidly bedridden because of severe generalized chorea paralytica. Her clinical picture was totally improved 7 days only after initiation of an "aggressive" treatment, combining steroid pulse, haloperidol and long-term penicillin G, with no relapse after 4-year follow-up. We believe that the best care of this rare and severe form of Sydenham's chorea, should combine pathophysiological treatment with corticosteroids, preferably by pulse-therapy, symptomatic antichoreic treatment by neuroleptics, associated with a long-term antibiotic use to reduce recurrence risk.

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

The hereditary spastic paraplegias (HSPs), a group of neurodegenerative movement disorders, are among the genetically most heterogeneous clinical conditions. Still, the more than 50 forms known so far apparently explain less than 80% of cases. The present study identified two large HSP families, which seemed to show an autosomal recessive and an X-linked inheritance pattern. A set of genetic analyses including exome sequencing revealed plausible mutations only when assuming incomplete/sex-dependent penetrance of adjacent alterations in the autosomal dominant HSP gene ATL1 (c.1243C>T and c.1244G>A, respectively). By screening of additional HSP patients for the presence of these alterations, we identified three more cases and obtained additional evidence for reduced penetrance. Bisulfate sequencing and haplotype analysis indicated that c.1243C and c.1244G constitute a mutational hotspot. Our findings suggest that misinterpretation of inheritance patterns and, consequently, misselection of candidate genes to be screened in gene-focused approaches contribute to the apparently missing heritability in HSP and, potentially, in other genetically heterogeneous disorders.

Benign myoclonic epilepsy of infancy evolving to Jeavons syndrome.

Benign myoclonic epilepsy of infancy is a rare idiopathic generalized epileptic syndrome occurring below the age of 3 years. Although benign outcome is presumed, some recent studies suggest less favorable outcome. A 14-year-old boy had a history of repeated episodes of myoclonic jerks of the shoulders and upper limbs in infancy (age 5 months). An ictal electroencephalogram indicated generalized spike-wave discharges associated with the myoclonic seizures, and the diagnosis of benign myoclonic epilepsy of infancy was made. Valproate treatment resulted in control of the myoclonic seizures, and the drug was withdrawn when the patient was 5 years of age. At the age of 10, he presented with episodes of eyelid jerks associated with brief lapses in concentration triggered by sunlight. Electroencephalography revealed photosensitivity and a pattern of eye-closure sensitivity. These features were compatible with the diagnosis of eyelid myoclonia with absences, or Jeavons syndrome. Lamotrigine eliminated the seizures. The evolution of benign myoclonic epilepsy of infancy to eyelid myoclonia with absences has been reported in one other case. A possible continuum of myoclonic epileptic syndromes, mediated by a common genetic abnormality, suggests the need for longer monitoring of patients with benign myoclonic epilepsy of infancy.

Neurological manifestations revealing primitive Gougerot-Sjogren syndrome: 9 cases.

INTRODUCTION: Neurological manifestations in Gougerot-Sjogren syndrome (GSS) are valued differently. This is essentially the achievement of the peripheral nervous system. METHODS: We report 9 cases of neurological manifestation revealing primitive Gougerot-Sjogren syndrome collected over a period of 8 years (1997-2004). GSS diagnosis was retained according to Americano-European group criteria consensus revised on 2002. RESULTS: All our patients were female with an average age of 43 years. Peripheral nervous system manifestation occurred in 78% (Truncal Neuropathy in 44%, anterior horn involvement in 2 cases). Central nervous system involvement was observed in 55.6% (chronic myelopathy and aseptic meningoencephalitis). DISCUSSION AND CONCLUSIONS: The analysis of neurological manifestations in GSS encounters three difficulties: the lack in homogeneity of diagnostic criteria (which makes it difficult to compare the frequency of neurological complications in different series), the limited number of large series, and the cases with neurological manifestations revealing this syndrome.