Edward J. Cupler

Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features

Miyoshi myopathy (MM) is a rare autosomal recessive distal myopathy linked to chromosome 2p12-14 that has not been described in Saudi Arabia. A Saudi family with five siblings aged 3-25 years, an unrelated 18-year-old woman and a 40-year-old man with MM were identified. All patients underwent a neurological examination, serum chemistry, electromyography and MRI of the legs. Four patients underwent a muscle biopsy that was processed for routine enzyme histochemistry and immunocytochemical analyses for dystrophin and adhalin (alpha-sarcoglycan). The two sporadic and two familial cases showed classic findings of MM, including early adult onset, preferential involvement of gastrocnemius muscles, markedly elevated serum creatine kinase levels and dystrophic-appearing muscle without vacuoles. Magnetic resonance imaging revealed selective involvement of the posterior compartment muscles and myoedema by STIR sequences. The remaining three familial cases had elevated serum creatine kinase levels and two also had early myopathic findings by EMG suggestive of MM.

Prolonged improvement after rituximab: two cases of resistant muscle-specific receptor tyrosine kinase + myasthenia gravis.

Forty percent to 50% of acetylcholine receptor antibody-seronegative patients with myasthenia gravis have muscle-specific receptor tyrosine kinase antibodies. Many muscle-specific receptor tyrosine kinase + myasthenia gravis patients remain refractory with conventional therapies. Rituximab is an anti-CD20 monoclonal antibody used in refractory B-cell disorders. Currently there is no standard dosing schedule for rituximab. We present two muscle-specific receptor tyrosine kinase + myasthenia gravis patients clinically refractory to conventional therapy who, after a single course of rituximab, became asymptomatic and discontinued all medication.

Nephrogenic systemic fibrosis presenting as myopathy: A case report with histopathologic correlation

Nephrogenic systemic fibrosis is primarily a skin disorder associated with renal insufficiency and exposure to gadolinium-containing (GAD+) contrast. We present the case of a 64-year-old man who was exposed to gadolinium while in acute renal failure, and months later developed limb stiffness, proximal weakness, and woody muscle texture. Muscle biopsy demonstrated chronic non-inflammatory fibrosing myopathy. CD34+ fibroblasts have previously been reported to be specific for nephrogenic systemic fibrosis dermopathy, and we found these in fibrotic areas of muscle and fascia. Nephrogenic systemic fibrosis is an emerging disorder, and our case highlights that it may present as a progressive myopathy with minimal skin findings.

ANTERIOR INTEROSSEOUS NERVE SYNDROME FOLLOWING PERIPHERAL CATHETERIZATION: MAGNETIC RESONANCE IMAGING AND ELECTROMYOGRAPHY CORRELATION

Anterior interosseous nerve syndrome (AINS) has not been widely recognized as a possible complication following peripheral catheterization. Herein we present a retrospective review of patients with AINS over the last 5 years. Six cases were identified, 4 associated with catheterization. AINS may be a rare complication of catheterization. Magnetic resonance imaging (MRI) may serve as an adjunct diagnostic modality to conventional electromyography (EMG) and nerve conduction studies, especially in patients who are intolerant of pain. Muscle Nerve, 2011

Non-convulsive seizures and electroencephalography findings as predictors of clinical outcomes at a tertiary intensive care unit in Saudi Arabia

OBJECTIVE Electroencephalography (EEG) in the intensive care unit (ICU) is often done to detect non-convulsive seizures (NCS). The outcome of ICU patients with NCS strongly depends on the underlying etiology. The implication of NCS and other EEG findings on clinical outcome independent from their etiology is not well understood and our aim to investigate it. PATIENTS AND METHODS We retrospectively identified all adult patients in the ICU who underwent EEG monitoring between January 2008 and December 2011. The main goals were to define the rate of NCS or non-convulsive status epilepticus (NCSE) occurrence in our center among patients who underwent EEG monitoring and to examine if NCS/NCSE are associated with poor outcome [defined as death or dependence] with and without adjustment for underlying etiology. The rate of poor outcome among different EEG categories were also investigated. RESULTS During the study period, 177 patients underwent EEG monitoring in our ICU. The overall outcome was poor in 62.7% of those undergoing EEG. The rate of occurrence of NCS/NCSE was 8.5% and was associated with poor outcome in 86.7% with an odds ratio (OR) of 5.1 (95% confidence interval [CI] 1.09-23.8). This association was maintained after adjusting for underlying etiologies with OR 5.6 (95% CI 1.05-29.6). The rate of poor outcome was high in the presence of periodic discharges and sharp and slow waves of 75% and 61.5%, respectively. CONCLUSIONS Our cohort of ICU patients undergoing EEGs had a poor outcome. Those who developed NCS/NCSE experienced an even worse outcome regardless of the underlying etiology.

Congenital absence of gluteal muscles, optic nerve hypoplasia, and central nervous system hamartomas.

Introduction Congenital absence of a muscle is rare except for certain vestigial muscles (e.g. palmaris longus, peroneus tertius). Congenital absence of extraocular or facial muscles is most frequent, resulting in disorders of ocular motility or Moebius syndrome (Liptak, 2006). The causes are diverse, including abnormalities of mesodermal migration or those related to primary nuclear hypoplasias. Various other isolated reports of unilateral congenital muscle absences exist (Table 1). Exceptional cases have been associated with facioscapulohumeral dystrophy (Ropper and Brown, 2005). However, other than Eagle–Barrett syndrome, bilateral symmetrical congenital muscle absence is rare. A single report exists of two Mexican siblings with congenital absence of the gluteal muscles associated in both cases with mental retardation, spina bifida occulta, and a family history of neural tube defects in both parents and several siblings (Carnevale et al., 1976). We report a case of bilateral gluteus maximus absence associated with bilateral optic nerve hypoplasia, scoliosis, spina bifida occulta, and central nervous sytem hamartomas.