A 5-Year Follow-Up of Triple-Seronegative Myasthenia Gravis Successfully Treated with Tacrolimus Therapy.

Seronegative myasthenia gravis (MG) is a generalized form of MG that is diagnosed on the basis of clinical symptoms, electrophysiological testing, and pharmacological responses, in the absence of a seropositive status for anti-acetylcholine receptor (AChR) antibodies. Generalized MG that is seronegative for anti-AChR, anti-muscle-specific kinase (MuSK), and anti-low density lipoprotein receptor related protein 4 (Lrp4) antibodies is known as triple-seronegative MG. We here describe a case of triple-seronegative MG in an 8-year-old boy.

Partial tandem duplication of GRIA3 in a male with mental retardation.

The genetic factors underlying mental retardation (MR) are very heterogeneous. Recent studies have identified a number of genes involved in MR, several of which lie on the X-chromosome, but the current understanding of the monogenic causes of MR is far from complete. Investigation of chromosomal rearrangements in patients with MR has proven particularly informative in the search for novel genes.

Immunoadsorption therapy in Guillain-Barré syndrome.

A 12-year-old boy rapidly developed Guillain-Barré syndrome (GBS) after Campylobacter jejuni enteritis. Electrophysiologic studies suggested that demyelination was dominant, and serum anti-C. jejuni and both IgG and IgM anti-GM1 antibodies were significantly elevated.

Motor nerve conduction studies on children with spinal muscular atrophy.

Median and posterior tibial motor nerve conduction studies were performed on 10 children with spinal muscular atrophy (SMA). Three patients with SMA type I, in whom rapid deterioration occurred, showed reduced motor nerve conduction velocity and a remarkably low M-wave amplitude in both nerves. In type II and III patients, the motor nerve conduction velocity was normal in the median nerve, although the M-wave amplitude was small in the tibial nerve.

Spinal cord MRI in neuro-Behçet's disease.

We report the case of a 10-year-old boy with neuro-Behçet's disease. Spinal cord MRI showed signal abnormalities in the cervical and thoracic cord, but cerebral CT and MRI revealed no abnormality.

Cerebral MRI and spectroscopy in Sjögren-Larsson syndrome: case report.

We report MRI and MRS of the brain in a patient with Sjögren-Larsson syndrome (SLS) in whom fatty alcohol oxidoreductase (FAO) deficiency has been verified. MRI showed periventricular lesions, high intensity on T2-weighted and low intensity on T1-weighted images at trigones of the lateral ventricles. 1H-MRS of these lesions revealed high lipid and low N-acetyl aspartate peaks.

Spinal muscular atrophy in trizygotic triplets.

The clinical, electrophysiological, pathological and genetic findings in trizygotic triplets with spinal muscular atrophy (SMA) are reported. The first child was clinically affected shortly after birth and the third one first showed symptoms at 1 month of age. Electromyography and a muscle biopsy provided evidence of lower motor neuron disease.

Efficacy of thyrotropin-releasing hormone in the treatment of spinal muscular atrophy.

Children with spinal muscular atrophy were treated by the administration of thyrotropin-releasing hormone. In three infants with spinal muscular atrophy type I, thyrotropin-releasing hormone showed little efficacy, but in children with types II and III, there was improvement in motor function and electromyographic findings after the thyrotropin-releasing hormone therapy. Thyrotropin-releasing hormone has a neurotrophic effect on the spinal anterior motor neurons of spinal muscular atrophy patients and thus may be warranted for the management of spinal muscular atrophy.

Neuroleptic malignant syndrome-like state in a patient with Down syndrome and basal ganglia calcification.

We report a case of rhabdomyolysis in a 13-year-old Down syndrome patient with progressive quadriplegia, choreoathetosis and dystonia. Cranial CT demonstrated bilateral basal ganglia calcification. He experienced the sudden onset of high fever, cloudiness of consciousness, muscle rigidity and severe opisthotonus.

Intraspinal metastasis of neuroblastoma--report of a case detected at autopsy.

Metastasis to the brain or spinal cord parenchyma is extremely rare in cases of neuroblastoma. We present a 3-year-7-month-old boy with neuroblastoma, stage IV, with intraspinal metastasis. He had no neurologic manifestation except incontinentia urinae and ataxia at the terminal stage.