The FHM1 mutation S218L: a severe clinical phenotype? A case report and review of the literature.

Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura that is characterized by motor weakness during attacks. FHM1 is associated with mutations in the CACNA1A gene located on chromosome 19. We report a severe, prolonged HM attack in a young pregnant patient who had the S218L FHM1. This CACNA1A mutation has been associated with HM, delayed cerebral oedema and coma following minor head trauma. The case history we report suggests a specific, severe phenotype and the co-occurrence of HM and epilepsy related to the S218L FHM1 mutation.

[Progressive anarthria: an individual entity]. / Anarthrie progressive: une entité propre.

INTRODUCTION: First described 15 years ago, primary progressive anarthria is a focal cortical atrophy defined as a rare progressive impairment of speech associated with orofacial apraxia and leading to mutism with a frontal lobe syndrome. The aim of this study was to analyze clinical and neuropsychological data and results of complementary tests in a series of patients presented with primary progressive anarthria. MATERIAL AND METHODS: We, retrospectively, studied five patients with primary progressive anarthria. We particularly analyzed the following parameters: age at onset, age at the diagnostic, disease time from onset to first consultation, the initial orientation, the neuropsychological and clinical data at the first visit, electromyography, brain MRI, and single photon emission computed tomography (SPECT) findings. Clinical and neuropsychological data were used to monitor disease course. RESULTS: The mean age at onset of symptoms was 75.2+/-5.8 years. Patients were primarily referred to a specialist in memory disease (n=3) or a specialist in motor neuron disease (n=2). The time from onset to first consultation was 11.2+/-3 months. Anarthria was associated with dysexecutive syndrome and sometimes, with impaired comprehension. Electromyography was always normal. Cranial MRI showed temporal or left frontal atrophy (n=3). Spect revealed decreased cerebral blood flow predominating in the left frontal or temporal region (n=4). CONCLUSION: Long delay for specialist consultation and inadequate initial orientation retard disease diagnosis, leading to severe incapacity. Complementary studies are required to confirm diagnostic and to rule out lateral amyotrophic sclerosis. During the early stages, involvement of the premotor cortex may be considered due to the speech apraxia. Secondary motor orofacial disturbances suggest an extension to the motor cortex. Primary progressive anarthria is a distinct individual entity within the spectrum of focal cortical atrophies.

[Primary progressive aphasia: a specific consideration among the neurodegenerative pathology]. / L'aphasie progressive primaire: un cadre à part dans les pathologies neurodégénératives.

INTRODUCTION: Isolated progressive speech and language difficulties are often the first symptom of primary progressive aphasia. EXEGESIS: We report a 63-year-old woman with progressive language impairment that remained isolated for at least two years, related to a greater atrophy within the left hemisphere. There was no impairment in daily living during two years and six months. Progressively, she developed a frontal dementia. CONCLUSION: Isolated language impairment may be the inaugural symptom of a focal form of a neurodegenerative disease. Progressive language deterioration without impairment in daily life activity or behavioral changes must be differentiated from Alzheimer disease. Brain imaging is important for the diagnosis.

[Camptocornia presenting with a proximal myotonic myopathy]. / Camptocormie révélatrice d'une myopathie myotonique proximale.

We report the case of a 74-year-old patient who presented with an anterior inflexion of the trunk which increased during the day. His past medical history included treatment for hypothyroidism, a cure of cataracts and an increase of gammaGT. This camptocormic attitude revealed a proximal myotonic myopathy (PROMM). Clinical and paraclinical arguments (hypothyroidism, cataracts, weakness, EMG, muscle biopsy, biology) led to diagnosis.

Adult onset ornithine transcarbamylase deficiency: an unusual cause of semantic disorders.

Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. This condition usually presents in neonates or children. This report describes the clinical case of a 21 year old woman who was diagnosed in adulthood during the course of an unexplained coma. After recovery from the coma, she presented very unusual neuropsychological disorders involving memory and the meaning of certain words, suggesting a semantic deficit. The discovery of OTCD in adulthood is rare and the neuropsychological consequences may be unique.