[Recurrent Miller-Fisher syndrome]. / Syndrome de Miller-Fisher récidivant.

INTRODUCTION: Miller-Fisher syndrome (MFS) is a rare auto-immune post-infectious syndrome, characterized by an ataxia, an ophthalmoplegia and a generalized areflexia. It is considered as a clinical variant of Guillain-Barré syndrome (GBS). MFS is correlated with the presence of anti-GQ1b antibodies, elevated cerebrospinal fluid (CSF) protein levels, presence of mostly sensitive electrophysiological abnormalities and for some authors central involvement with increased signal intensity of brainstem and cerebellum on MRI. Recurrent MFS is extremely rare with only 21 cases since the first description in 1970. CASE REPORT: A 54-year-old women presented MFS with two episodes in 19 years. Clinically, the first episode was a "classical" MFS, and the second an extensive MFS with tetraparesis and respiratory failure. CSF protein levels and cerebral MRI were normal. Anti-GQ1b antibodies were strongly positive and anti-GM1, anti-GM2 antibodies were slightly positive, campylobacter jejuni serology was negative. Electromyography showed isolated sensory abnormalities in median nerves territory. CONCLUSION: We report a new case of recurrent MFS with unusual clinical, biological and electrophysiological features.

Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME).

BACKGROUND: Familial adult myoclonic epilepsy (FAME) is defined by autosomal dominant inheritance, adult onset of myoclonus of the extremities, infrequent epileptic seizures, nonprogressive course, abnormality of polyspikes and waves on examination by EEG and photosensitivity, giant somatosensory evoked potentials, enhancement of C reflex, and premyoclonus spike detected by means of the jerk-locked averaging EEG method. These findings were also observed in patients with benign adult familial myoclonic epilepsy (BAFME) and patients with familial cortical tremor. FAME and BAFME have been described only in Japan. The genes responsible for FAME and BAFME were mapped in the same genetic interval in 8q22.3-q24.1 OBJECTIVE: To study clinical and genetic characteristics of a European family with FAME. METHODS: A four-generation European kindred presenting with FAME, including 18 members, is described. Clinical analysis was performed on 15 living subjects and electrophysiologic study on 5 patients. Linkage analysis was performed with fluorescent microsatellites encompassing the FAME/BAFME locus (8q23.3-q24.1). RESULTS: Ten living and three deceased relatives had the clinical characteristics of FAME. Mean age at onset of the 10 living patients was 41 years (range, 30-60 years). Eight of the 13 affected subjects had generalized tonic-clonic seizures. Electrophysiologic studies confirmed the diagnosis of FAME in the five patients studied. The pattern of inheritance was consistent with an autosomal dominant inheritance. The locus responsible for FAME/BAFME was excluded. CONCLUSION: Observation of a European family extends the occurrence of familial adult myoclonic epilepsy to non-Japanese patients. Exclusion of linkage of this family to the locus for familial adult myoclonic epilepsy/benign adult familial myoclonic epilepsy established the genetic heterogeneity of this disorder.

Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.

Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). As the other sporadic or infectious prion disease forms, they are almost all characterized by the accumulation in the brain of an abnormal misfolded form of the patient's PrP. Brain extracts can often transmit the disease once inoculated in a recipient animal. Inherited prion diseases with Creutzfeldt-Jakob disease (CJD) phenotype are autosomal forms, although sporadic cases have been reported. We report three novel mutations of the PRNP gene in unrelated patients with clinical and histopathologic features of CJD. The three mutations were missense: c635G>A (E196K), c656G>A (V203I) and c680G>C (E211Q). Familial history of neurologic disorders was evidenced for patients carrying the E196K and E211Q mutations. E196K would be predicted to have more severe effects on protein stability than V203I and E211Q. These mutations expand the spectrum of mutations in PRNP and reduce the proportion of CJD patients in whom genetic alterations have not been found.

[Arachnoid cysts and subdural hematomas]. / Kystes arachnoïdiens et hématomes sous-duraux.

Arachnoid cysts of the middle cerebral fossa is a not uncommon lesion which can occur in young subjects, sometimes after minimal head trauma. Subdural hematomas and sometimes intracystic hemorrhage may develop. We report a personal series of seven cases seen in young subjects (6-24 years). Clinical presentation was not specific, the complication usually being revealed by signs of intracranial hypertension. The pathogenesis of subdural hematoma is discussed. Magnetic resonance imaging is the most useful diagnostic tool, providing excellent tissue specificity, although CT scan is often used to visualize a subdural hematoma and subsequent arachnoid cyst. Treatment relies on surgery to empty the subdural hematoma and remove compression. There has been no real consensus on treatment modalities. Long-term prognosis is good in most cases.

[Pneumocephalus complicating osteoma of the frontal sinus]. / Pneumocéphalie compliquant un ostéome du sinus frontal: 2 cas.

Osteomas of the paranasal sinuses are benign, often asymptomatic, tumors which progress very slowly. Endocranial development of an osteoma can breach the dura mata, allowing air to enter the cranium producing pneumocephalia which leads to severe neurological deficiencies. Pneumocephalia is an exceptional complication of osteoma. We found 40 cases reported in the literature. Brain CT scan easily gives the diagnosis. Surgical exeresis with closure of the breach gave very satisfactory results in our 2 cases.