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. The diagnosis was made on the basis of the marked increases in serum creatine kinase and myoglobin. There was remarkable elevation of 5-hydroxyindoleacetic acid, homovanillic acid and methoxy-hydroxyphenyl glycol in the cerebrospinal fluid during hyperpyrexia. This case exhibited almost all the diagnostic criteria of the neuroleptic malignant syndrome. It was suggested that abnormalities of monoamines in the central nervous system may be related to the pathologic etiology of this state and rhabdomyolysis.

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. The patient was treated three times with immunoadsorption therapy using a tryptophan-immobilized column. The volume of treated plasma in each session was about 2 L. His blood pressure was maintained within normal range with the use of 5% albumin preparations and etilefrine hydrochloride. His clinical and electrophysiologic findings began to recover shortly after therapy, with a decrease in the levels of serum IgG and IgM anti-GM1 antibodies. This immunoadsorption therapy should be considered for anti-GM1 antibody-associated GBS.

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. In four patients, a reduction of the M-wave amplitude was observed as clinical symptoms advanced. These findings may suggest that motor conduction studies in spinal muscular atrophy provide complementary information for understanding the pathogenesis and are also useful to clarify the heterogeneity of this disease.

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.

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. The second child remains clinically normal, but electromyography showed fibrillation potentials and regular spontaneous motor unit activity at rest. Genetic linkage analysis revealed that the two siblings with typical type 1 SMA had the same chromosome 5q haplotype, and that the second child had a different haplotype. It is considered that in this family there is a link to SMA 5q and there is little possibility that the second child is affected. These data emphasize the need to adhere to strict clinical criteria for the diagnosis of chromosome 5q SMA.

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. We presume such lipids in periventricular lesions with high T2 signal may be pathognomonic of SLS.

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. His cranial computed tomography scan showed high density areas in both cerebellar hemispheres which seemed to be distant metastatic masses. At autopsy, the metastases in the cerebellum were found to be due to dural infiltration but in the spinal cord parenchyma of the lumbar spine metastases were detected macroscopically. There were multiple distant metastatic areas near the roots, anterior and posterior. The neuroblastoma seemed to have spread along the roots by direct invasion from the meninges. In the future, the number of patients with metastasis into the brain or spinal cord parenchyma will increase because patients with progressive disease could live for a long time as a result of intensive chemotherapy. Observation of these cases will be helpful to clarify the routes of metastasis to these areas.