No abstract available.
Atrophy* ; Magnetic Resonance Imaging* ; Myelitis, Transverse* ; Spinal Cord*

No abstract available.
Ganglia* ; Hemolytic-Uremic Syndrome*

No abstract available.
Hemifacial Spasm*

Cystathionine is well-known intermediate in the metabolism of methionine. It is cleaved to cysteine and homoserine by gamma-cystathionase. This enzyme utilize pyridoxal 5'-phosphate as coenzyme. gamma-cystathionase deficiency leads to persistent excretion of large amount of cystathionine in urine, as well as to accumulation of cystathionine in body tissues and fluids. It is inherited as an autosomal recessive trait and shows wide variety of clinical manifestations. No clinical abnormality seems to be specifically associated with gamma-cystathionase deficiency. The majority of patients responded to high dose administration of pyridoxine. We report the first case of cystathioninuric patient in Korea, 19 months of female with developmental delay. In brain MRI, there was generalized mild brain atrophy. There were several times of brief paroxysmal generalized polyspike and wave discharges in electroencephalography(EEG). In amino acid analysis of urine, there was elevated level of cystathionine. She was treated with high dose of pyridoxine. In follow up analysis of urinary amino acid, the cystathionine level was markedly decreased to normal range, and EEG was normalized. Her development shows improvement.
Atrophy ; Brain ; Cystathionine ; Cystathionine gamma-Lyase ; Cysteine ; Electroencephalography ; Female ; Follow-Up Studies ; Homoserine ; Humans ; Korea ; Magnetic Resonance Imaging ; Metabolism ; Methionine ; Pyridoxal ; Pyridoxine ; Reference Values

Juvenile dermatomyositis is an uncommon autoimmune disease with classic heliotrope discoloration of eyelids, erythematous skin rash of joints and proximal muscle weakness. Quite different from adults, malignancy is rarely accompanied in juvenile dermatomyositis. However vasculitis, muscle atrophy, calcification and gastrointestinal involvement are often observed in juvenile dermatomyositis. A six year old boy was admitted with chief complaints of general weakness and skin rash. Muscle biopsy was performed which was consistent with dermatomyositis. The patient was treated with intravenous immunoglobulin, steroid, methotrexate and physiotherapy. We report a case of juvenile dermatomyositis.
Adult ; Autoimmune Diseases ; Biopsy ; Dermatomyositis* ; Exanthema ; Eyelids ; Humans ; Immunoglobulins ; Joints ; Male ; Methotrexate ; Muscle Weakness ; Muscular Atrophy ; Vasculitis

Hemiplegic migraine is characterized by the occurrence of migraine attacks with unilateral weakness. The attack usually starts in childhood, adolescence, or early adulthood. The diagnosis may be delayed if there is no relevant family history. We experienced two cases of hemiplegic migraine of 8 and 14 years old girls whose neuroimaging studies including MRA showed no abnormal findings in the acute phases and the ictal EEG findings also revealed normal. The hemiplegic attacks associated with sensory disturbance were improved by calcium channel blocker(Flunarizine). Hemiplegic migraine should be considered in the differential diagnosis of a pediatric hemiparesis even if there is no familial migraine history.
Adolescent ; Calcium Channels ; Diagnosis ; Diagnosis, Differential ; Electroencephalography ; Female ; Flunarizine ; Humans ; Migraine Disorders* ; Neuroimaging ; Paresis

Choroid plexus papilloma is a very rare disease in children. The manifestations of the disease differ according to the tumor size and the location. Increased CSF production by the tumor, hydrocephalus and symptoms of increased ICP are the main symptoms. The first line of treatment is surgical excision, but sometimes excision itself is very difficult due to the site and the size of the mass. Adjunctive radiation therapy or chemotherapy is not recommended. Since gross total resection without adjunctive therapy offers highest likelihood of success. Significant prognostic factors are sex, age, time of diagnosis, the duration between the appearance of symptoms and diagnosis, tumor volume, tumor site and the extent of surgery. We report a case of choroid plexus papilloma, in a child with anorexia and failure to thrive.
Anorexia* ; Child* ; Choroid Plexus* ; Choroid* ; Diagnosis ; Drug Therapy ; Failure to Thrive* ; Humans ; Hydrocephalus ; Papilloma, Choroid Plexus* ; Rare Diseases ; Tumor Burden

Spinal muscular atrophy(SMA) is a genetic disorder of the motor neurons that cause muscular weakness and muscular atrophy due to anterior horn cell degeneration. Classic spinal muscular atrophy patient is caused by mutation in the chromosome 5(q11.2-q13.3), and the majority of the patient shows homozygous deletion of the telomeric survival motor neuron(SMN) gene in the chromosome 5. Deletion of exon 7 and 8 of the SMN gene and deletion of exon 4 and 5 of the neuronal apoptosis inhibitory protein(NAIP) are typically observed in SMA patients. The SMN protein plays a role in an essential cell metabolism process, the splicing of pre mRNA in the spliceosomes. We report a 7 month old male with SMA. He showed rapidly aggrdvatial muscular weakness and died at 7 months. His DNA analysis proved deletion of exon 7 and 8 of the telomeric copy of the SMN gene.
Anterior Horn Cells ; Apoptosis ; Chromosomes, Human, Pair 5 ; DNA ; Exons* ; Humans ; Infant ; Male ; Metabolism ; Motor Neurons* ; Muscle Weakness ; Muscular Atrophy ; Muscular Atrophy, Spinal* ; Neurons ; RNA Precursors ; Spliceosomes

Ullrich's disease is a congenital muscular dystrophy clinically characterized by generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. All the patients develop rigidity of spine, often assoicated with scoliosis, failure to thrive, and early and severe respiratory involvement, irrespective of their levels of motor function. Intellectual development is normal. The biopsied muscles show dystrophies including remarkable variation in the fiber size, notably proliferated endomysial connective tissues, and a lot of degenerated and regenerated fibers. The expression of merosin and dytrophin is normal. Recent studies have demonstrated that collagen VI is deficient in the muscles of the patients with Ullrich's disease, and some result from recessive mutations of the collagen VIalpha 2 gene(COL6A2). And a marked reduction of fibronectin receptors in the extracellular matrix of skin and cultured fibroblasts of these patients is also reported. These results suggest that collagen VI deficiency may lead to the reduction of fibronectin receptors and that any abnormalities of cell adhesion may be involved in the pathogenesis of the disease. A case of Ullrich's disease has not been reported yet in Korea. So, we describe a male patient with Ullrich's disease with a brief review of the literature.
Cell Adhesion ; Collagen ; Connective Tissue ; Contracture ; Extracellular Matrix ; Failure to Thrive ; Fibroblasts ; Humans ; Integrin alpha5beta1 ; Joints ; Korea ; Laminin ; Male ; Muscle Weakness ; Muscles ; Muscular Dystrophies ; Receptors, Fibronectin ; Scoliosis ; Skin ; Spine

Linear and whorled nevoid hypermelanosis(LWNH) is characterized by macules in streaks and whorls along Blaschko's lines, that are not preceded by inflammation. LWNH can present with various findings such as neurologic, musculoskeletal, ophthalmologic, facial and cardiac abnormalities. Intracranial lipoma is very rare condition, with an incidence of less than 1% of all intracranial tumors. We recently experienced a case of LWNH with intracranial lipoma of corpus callosum. We report this case with a brief review of the related literature.
Corpus Callosum ; Hyperpigmentation* ; Incidence ; Inflammation ; Lipoma*