Intraneural perineurioma of the sciatic nerve in early childhood.

Intraneural perineurioma is an uncommon benign neoplasm characterized by focal perineural cell proliferation. The typical course is indolent, with gradual onset and slow progression of motor loss. In early childhood, uncertainty concerning the time of onset can lead to difficulty in distinguishing this potential treatable lesion from congenital and other causes of nerve palsy. In the present case, clinical presentation, electrophysiologic findings, and magnetic resonance imaging findings in a child were compatible with intraneural perineurioma of the lumbosacral trunk and sciatic nerve. Initially, peroneal neuropathy was suspected. The case illustrates that sciatic intraneural perineuriomas do occur in early childhood, and that traction on the sciatic nerve may result in earlier damage to the peroneal nerve than to the tibial nerve, thus mimicking a more peripheral lesion.

[Neuromuscular manifestations in critically ill patients]. / Neuromuskulaere forandringer hos kritisk syge patienter.

INTRODUCTION: Critically-ill patients in intensive care units often suffer from weakness of the arms and legs and have difficulty in weaning from the ventilator. If this cannot be explained by the illness itself, it may be due to a critical illness polyneuropathy (CIP) or a critical illness myopathy (CIM) or both. It is difficult to determine the cause of the weakness by conventional methods in an intensive care unit. The objective was to describe the diagnostic yield with electrodiagnostic testing and describe the various patterns and prognosis in these patients. MATERIALS AND METHODS: 55 consecutive patients with a critical illness associated with unexplained weakness of limbs and often respiratory muscles were studied to estimate motor and sensory nerve conduction, electromyography, direct muscle stimulation, and repetitive nerve stimulation. RESULTS: 18 patients had CIM, 16 had CIP and in 9 a combination of CIM and CIP was found. Direct muscle stimulation was more sensitive to show myogenic affection than needle EMG in this patient group. CONCLUSION: Electrophysiologic tests are valuable in identifying the specific cause of prolonged weakness in critically-ill patients in intensive care units.

["Jaw drop" as an atypical manifestation of Kennedy's disease]. / "Tab af kaeben" som atypisk debutsymptom ved Kennedys syndrom.

Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is an inherited X-linked degenerative disorder characterised by slowly progressive proximal limb weakness, bulbar weakness, fasciculations, signs of androgen insensitivity and characteristic EMG findings. The disease is caused by a trinucleotide (CAG) repeat in the androgen receptor gene. We describe a patient with atypical symptoms who was initially misdiagnosed after presenting with weakness of mm. masseter and mm. temporales that caused his jaw to hang open. The initial diagnosis was suspicion of myasthenia gravis or ALS. Genetic testing later confirmed the diagnosis of Kennedy's disease.