Arch Neurol

BACKGROUND: Friedreich ataxia (FA) is the most frequent type of autosomal recessive cerebellar ataxia, occurring at a mean age of 16 years. Nearly 98% of patients with FA present with homozygous GAA expansions in the FXN gene. The remaining patients are compound heterozygous for an expansion and a point mutation. Patients who are compound heterozygous for an exonic deletion and an expansion are exquisitely rare. OBJECTIVES: To describe 6 patients affected with FA due to an exonic deletion mutation (FAexdel) and to compare these 6 patients with FAexdel with 46 patients consecutively diagnosed with typical FA due to homozygous GAA expansion and whose small expansions were within the same range as that of the expansions of the patients with FAexdel. DESIGN: Description of a series. SETTING: Academic research. PATIENTS: Six patients with FAexdel and 46 patients with typical FA. INTERVENTION: FXN gene analysis, including assessments of GAA expansion and exon sequencing and determination of exonic copy numbers using multiplex ligation-dependent probe amplification. RESULTS: We identified 6 patients with FA who presented with the combination of 1 GAA expansion and 1 FXN exonic deletion. The mean (SD) age at onset of the disease was earlier for patients with FAexdel (7 [4] years [range, 3-12 years]) than for patients with typical FA (15 [5] years [range, 6-30 years]) (P = .001), and the median time to confinement to wheelchair was shorter for patients with FAexdel (20 years) than for patients with typical FA (28 years) (P = .002). There was no difference between the mean (SD) size of the expansion for the patients with FAexdel (780 [256] GAA triplet repeat sequences [range, 340-1070 GAA triplet repeat sequences]) and the mean (SD) size of the short expansion for the patients with typical FA (634 [163] GAA triplet repeat sequences [range, 367-1000 GAA triplet repeat sequences]) (P = .10). The mean disease duration before becoming wheelchair bound was shorter for patients with FAexdel (9 years) than for patients with typical FA (13 years), and the incidence of cardiomyopathy was higher for patients with FAexdel (84%) than for patients with typical FA (68%). However, these differences were not significant, probably owing to the small size of the FAexdel group. The other extraneurological signs, such as scoliosis or diabetes mellitus, were particularly frequently observed in the FAexdel group. One patient presented at 9 years of age with severe angina and marked cardiomyopathy that confined her to a wheelchair. Three patients had disabling autonomic disturbances. It appears that exonic deletion significantly contributes to the clinical picture of patients with FA. CONCLUSIONS: Friedreich ataxia due to an exonic deletion mutation corresponds to an early onset and severe variant of FA. FXN should be investigated for exonic deletion in patients with early-onset FA in which only 1 GAA expansion without a point mutation is found. Patients with FAexdel have to be carefully observed using cardiological, orthopaedic, endocrinological, gastroenterological, and ophthalmological data. Friedreich ataxia due to an exonic deletion mutation should be suspected in young patients presenting with severe scoliosis

Intracranial hypotension in a girl with Marfan syndrome: case report and review of the literature.

A 14-year-old girl, followed in our department for Marfan syndrome, presented with postural headache for a month. Neurological examination was normal. The diagnosis of intracranial hypotension syndrome was suspected. Bilateral subdural hematomas were found on brain magnetic resonance imaging (MRI), and spinal MRI showed large lumbosacral arachnoid diverticula; no cerebrospinal fluid leaks could be found. Despite bed rest and hydration for 2 weeks, postural headache remained. Epidural blood patching was also performed. Subsequently, the patient became asymptomatic and could stand up after 1 day. Brain MRI did not find recurrent subdural hematoma after 1 month. Dural ectasia is one of the major criteria of Marfan syndrome, and it is often poorly symptomatic. Intracranial hypotension is a rare complication especially in children, and management is not standardized. In this case report, blood patching was sufficient. Further research into the diagnosis and management of spontaneous intracranial hypotension is required

Evidence of Bartonella spp. in blood and ticks (Ornithodoros hasei) of Bats, in French Guiana

We screened blood from 59 bats from French Guiana for Bartonella spp. PCRs were positive for 13.6% and culture was positive in one Noctilio albiventris and one Pteronotus parnellii, as well as in Ornithodoros hasei ticks collected from bats. Two isolated strains represent possible two new species

SFP CO-31 - Inflammatory optic neuritis: Course and prognostic factors in 102 children|SFP CO-31 - Névrites optiques inflammatoires: évolution et facteurs pronostiques chez 102 enfants

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