Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients.

We report three Tunisian patients affected by congenital muscular dystrophy with mental retardation and cerebellar cysts on cranial magnetic resonance imaging. The clinical features were characterized by hypotonia at birth, joint contractures associated with severe psychomotor retardation, absence of speech, inability to walk in three patients, but calf hypertrophy was noted only in two patients. Brain magnetic resonance imaging showed several cerebellar cysts and vermis hypoplasia in all of the patients. Abnormality of the white matter was present in two patients. The pattern of gyration was normal in all cases. Serum creatine kinase was elevated in all three cases and their muscle biopsy showed dystrophic changes compatible with congenital muscular dystrophy. The immunohistochemical analysis of the skeletal muscle revealed partial merosin deficiency, more pronounced for the N-terminal antibody. Linkage analysis excluded congenital muscular dystrophy loci on chromosomes 6q22, 9q31, 1p32 and 1q42. These patients constituted a particular form of congenital muscular dystrophy with a combination of severe motor delay, mental retardation, partial merosin deficiency and cerebellar cysts. Two patients showed white matter abnormalities on magnetic resonance imaging and hypertrophy of the calves. These cases, in addition to those reported previously, confirmed the large phenotypic variability in the group of secondary merosin deficiency congenital muscular dystrophy.

[Ventilatory mechanics and alveolo-capillary diffusion in diabetes]. / La mecanique ventilatoire et la diffusion alveolo-capillaire dans le diabete.

In order to appreciate the repercussion of diabetes on the respiratory function, we measured the pulmonary volumes, the ventilatory flows, the airways resistances (Raw) and the diffusing capacity for the carbon monoxide (DLCO) of 49 diabetes distributed into 27 IDDM and 22 NIDDM aged from 15 to 56 years, compared to 31 control subjects. We found a significant decrease in the total pulmonary capacity (TCL), the vital capacity (VC), the inspiratory capacity (IC), the ventilatory flows and the DLCO. The decrease of the VC and the FEV1 will be more marked in the IDDM. The decrease of the DLCO will be more pronounced within masculine sex, it seems to be correlated with the duration of diabetes and more impaired if a diabetic nephropathy is associated especially in IDDM. Our results suggest that in the diabetes evolution, the lung is among the target organs in the degenerative complications. The respiratory tests reflect the pulmonary reach in the diabetes and provides important perspectives in the following.

Trigeminal somatosensory evoked potentials in trichloroethylene-exposed workers.

OBJECTIVE: To assess the value of trigeminal somatosensory evoked potentials (TSEP) in evaluating toxicity of trichloroethylene to the trigeminal nerve. METHODS: Trichloroethylene (TCE), an excellent fat solvent largely used in industry, has a neurotoxic effect particularly on the trigeminal nerve. In March 2002, several TCE-exposed workers presented to Habib Bourguiba University Hospital, Sfax, Tunisia, for burned or numbness of the face. Twenty-three workers manipulating TCE underwent clinical, biological and toxicological assessment. Neurophysiologic study consisted of the measurement of the latencies and the amplitudes of TSEP in 23 exposed workers and 23 controls. RESULTS: Abnormal TSEP were observed in 6 workers with clinical evidence of trigeminal involvement and in 9 asymptomatic workers. We observed a significant positive correlation between duration of exposure and the N2 latency (r=0.5, p<0.01) and P2 latency (r=0.6, p<0.02). The sensitivity of TSEP was 65% and the specificity was 100%. CONCLUSION: Trigeminal somatosensory evoked potentials are a useful tool in the diagnosis and management of chronic neurological complications of TCE intoxication. Since alterations of TSEP precede clinical symptoms, trigeminal nerve involvement can be demonstrated at the infra-clinical stage.