Non-collagenic etiologies of muscle weakness with joint deformities: about two paradigmatic case reports.

Muscle weakness associated to marked joint deformities is not an uncommon clinical situation in daily neuromuscular clinics. These abnormalities encompass a large variety of conditions including non-primary muscle disorders. Besides well-defined and rather readily recognisable hereditary syndromes such as Bethlem myopathy or Ullrich congenital muscular dystrophy, some unusual etiologies should also be considered. We report here two paradigmatic cases in which we found mutations in two novel genes corresponding to two newly described entities (progressive pseudorheumatoid dysplasia, PPD, and infantile systemic hyalinosis, ISH) both conditions in which the clinical picture can mimick primary muscle disease.

Early epileptic encephalopathies including West syndrome: a 3-year retrospective study from Klang Hospital, Malaysia.

It is difficult to give a country report from Malaysia. A study done in 1999 reported the incidence of West Syndrome to be 3% among newly diagnosed cases of epilepsy. In this 3 year retrospective hospital-based study (1997-1999), the prevalence of early epileptic encephalopathy (EEE) and West Syndrome were 4.1 and 2.5% respectively. There is difficulty classifying EEE cases into distinct sub-groups of EIEE (early infantile epileptic encephalopathy), WS (West Syndrome) and SMEI (severe myoclonic epilepsy of infancy), using a combination of clinical features, EEG and CT/MRI findings.

Cerebrovascular resistive index assessed by duplex Doppler sonography and its relationship to intracranial pressure in infantile hydrocephalus.

Duplex Doppler sonography and direct intracranial pressure (ICP) measurement were performed on 18 patients with infantile hydrocephalus. ICP was measured through a frontal reservoir or ventricular tap using a nondisplacement pressure transducer. The Pourcelot Resistive Index, RI = (peak systolic-end diastolic)/peak systolic velocity was obtained from pulsed-wave Doppler measurements of blood flow velocity in the anterior (ACA) and/or the middle cerebral (MCA) arteries. There was a statistically significant positive correlation between ICP and RIs in the MCA and ACA. Paired RI measurements in 7 patients with raised ICP decreased significantly from a mean of 0.90 pre-tap to 0.75 post-tap. Our results suggest that the RI provides a reliable measure of cerebrovascular resistance in hydrocephalus. Duplex Doppler ultrasonography thus is a useful noninvasive means of monitoring cerebrohaemodynamic change with simultaneous imaging of ventricular size in infantile hydrocephalus.

Prevalence and incidence of Becker muscular dystrophy.

We measured the prevalence and incidence of Becker muscular dystrophy in the Northern Health Region of England, UK. Patients were identified from the records of the Regional Neurological Centre and Muscular Dystrophy Group laboratories, Newcastle upon Tyne, and by writing to local doctors. We used cDNA probes and/or dystrophin immunolabelling of muscle-biopsy samples to prove the diagnosis of all cases. Results were compared with the known prevalence and incidence of Duchenne muscular dystrophy. 73 patients alive and resident in the Northern Health Region were identified, giving a prevalence rate of 2.38/100,000. This compares with a prevalence of Duchenne muscular dystrophy of 2.48/100,000. The cumulative birth incidence of Becker muscular dystrophy (at least 1 in 18 450 male live births) was about one third that of Duchenne muscular dystrophy (1 in 5618 male live births), suggesting that the disorder is more common than previously thought.