[Myotonia and hypothyroidism]. / Myotonie et hypothyroïdie.

INTRODUCTION: Hypothyroidism is frequently associated with different neuromuscular disorders. However myotonia is rarely a revealing feature. CLINICAL CASES: Two patients aged 28 and 31 years consulted for a progressive myotonia. Blood and thyroid analysis revealed peripheral hypothyroidism with low FT4 and high TSH levels. Outcome was favorable with thyroid hormone substitution. Myotonia regressed and thyroid hormone levels returned to normal. CONCLUSION: Myotonia may reveal hypothyroidism. The pathogenic mechanism of this myotonia is an unknown. Good outcome with thyroid hormone substitution requires a systematic thyroid hormone screening in patients presenting neuromuscular manifestations.

GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families.

The objective was to investigate whether the described mutations of the SCN1A, SCN1B and GABRG2 genes are associated to generalised epilepsy with febrile seizure plus (GEFS+) in two Tunisian families. We performed a genetic study of two multigenerational Tunisian families with GEFS+ spectrum. The molecular analysis included a PCR amplification of SCN1B, SCN1A and GAGRG2 exons, then a screening of the known SCN1B, SCN1A and GABRG2 gene mutations by direct sequencing. The data excluded the involvement of all known published mutations. However, an insertion of a T nucleotide at a heterozygous state within the intron 12 of the SCN1A gene has been identified in two probands and their parents. Our results corroborate the genetic heterogeneity of GEFS+ predominantly in epilepsy patients of different countries and ethnic groups.

[Presentation of a cavernous angioma with an oculomotor nuclear syndrome: a case report]. / Syndrome nucléaire du nerf oculomoteur commun révélateur d'un cavernome mésencéphalique.

INTRODUCTION: The nuclear syndrome of the oculomotor nerve, first described in 1981, is characterized by ipsilateral third nerve palsy and elevation paresis of the contralateral eye. CASE REPORT: A 59-year-old man suddenly developed diplopia and headache. Neurological examination showed nuclear ophthalmoplegia of the left third nerve without any other neurological abnormality. MRI findings demonstrated a typical, popcorn-like, smoothly circumscribed left posterior lesion. Surgical resection was not performed because of the deep localization. Spontaneous bleeding developed. CONCLUSION: This neuro-ophthalmological complication of a cavernous angioma, as seen in our patient, has rarely been described in the literature. The clinical presentation and anatomic elements of the nuclear oculomotor syndrome are discussed. This exceptional localization provides a useful illustration of anatomoclinical correlations.

[Imaging of cerebrotendinous xanthomatosis]. / Imagerie de la xanthomatose cérébrotendineuse.

Cerebrotendinous xanthomatosis is a rare lipid storage disorder due tocaused by an autosomal recessive inherited defect of the hepatic mitochondrial sterol 27 hydroxylase. It's characterized by accumulation of cholestanol and cholesterol in many tissues, in particular tendons and brain, with tendon xanthomas, juvenile cataracts, and neurological abnormalities. MR imaging showed typical bilateral and symmetrical involvement of the dentate nuclei. Early and long- term treatment may improve neurologic function. The authors present a case of cerebrotendinous xanthomatosis and describe ultrasound, computed tomography, and magnetic resonance findings.

[Dyke-Davidoff-Masson syndrome: a report of two cases]. / Syndrome de Dyke-Davidoff-Masson: a propos de deux observations.

Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis and mental retardation. We report the clinical and imaging features in two patients with epilepsy revealing a Dyke-Davidoff-Masson syndrome. Brain MRI showed unilateral loss of cerebral volume with hypertrophy and hyperpneumatization of the paranasal sinuses and mastoid cells. Ipsilateral fronto-parietal polymicrogyria was present in one patient.

[Balò's concentric sclerosis in a North-African patient]. / Sclérose concentrique de Balò chez un patient nord-africain.

INTRODUCTION: Balo's concentric sclerosis is a rare variant of multiple sclerosis described by Balo in 1928. It is characterized by alternating rings of demyelination and spared myelin. CASE REPORT: We report a case of Balo's concentric sclerosis diagnosed by the typical MRI findings of concentric rings of demyelination. Medullar and brain localisation were found and clinical course was good under intravenous corticosteroids. CONCLUSION: MRI provides the best diagnostic information for Balo's concentric sclerosis, allowing early diagnosis and treatment.

[Cerebral tuberculomas]. / Les tuberculomes cérébraux.

We report eight cases of brain tuberculoma. The clinical presentation was polymorphous: partial epilepsy (n=4), headache (n=3), hemiplegia (n=1), meningitis (n=1), cerebellar syndrome (n=1). Six patients also had pulmonary tuberculosis, one had tuberculosis of the genital organs, and one had HIV co-infection. The brain CT scan and MRI were highly contributive to diagnosis and follow-up. Despite good compliance with an anti-tuberculosis regimen for at least 14 months, the course was favorable in only six patients. Adjunction of corticosteroids led to radiological improvement. Assessment of cell immunity demonstrated a diminished immunomodulator ratio. Cerebral tuberculoma should be searched for in patients with unexplained neurological manifestations and several intracerebral lesions, particularly if pulmonary or visceral tuberculosis and/or immunodepression is part of the clinical picture.