PURPOSE To report the MR and CT findings in a hereditary disease, infantile-onset spinocerebellar ataxia (IOSCA). METHODS We studied the brains of 17 patients with infantile-onset spinocerebellar ataxia with CT and/or MR to determine the presence of cerebellar and brain stem atrophy and parenchymal lesions. RESULTS Cerebellar cortical atrophy was seen in 13 patients. The degree of atrophy c...

OBJECTIVE Endoscopic third ventriculostomy with choroid plexus cauterization (ETV/CPC) offers an alternative to shunt treatment for infantile hydrocephalus. Diagnosing treatment failure is dependent on infantile hydrocephalus metrics, including head circumference, fontanel quality, and ventricle size. However, it is not clear to what degree these metrics should be expected to change after ETV/C...

OBJECTIVE Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies. METHODS A total of 20 infantile patients diagnosed by the collaborative Dutch centers and 133 cases reported in literature were includ...

BACKGROUND Monocular infantile blindness may be associated with bilateral horizontal nystagmus, a subtype of fusion maldevelopment nystagmus syndrome (FMNS). Patients often adopt a significant anomalous head posture (AHP) towards the fixing eye in order to dampen the nystagmus. This clinical entity has also been reported as unilateral Ciancia syndrome. The aim of the study was to ascertain the ...

Studies of the efficacy of topiramate (TPM) in infants and young children are few. Here we report an open, prospective, and pragmatic study of effectiveness of TPM in terms of epilepsy syndromes, in children aged less than 2 years. The median follow-up period was 11 months. We enrolled 59 children in the study: 22 affected by localization-related epilepsy (LRE), 23 by generalized epilepsy, six ...

STUDY OBJECTIVES To evaluate the relationship between bronchial hyperresponsiveness (BHR) in infants with wheezing and the subsequent development of asthma. INTERVENTION Bronchial reactivity to inhaled methacholine (BRm) during the infantile period was studied using the transcutaneous partial pressure of oxygen (tcPO(2)) method. Children were followed long-term for the development of asthma. ...

PURPOSE To elucidate the pathophysiology of dissociated horizontal deviation. METHODS The reversed fixation test was performed prospectively in 28 patients who developed consecutive exotropia following horizontal extraocular muscle surgery for infantile esotropia. All patients were assessed for the presence of adduction weakness, latent nystagmus, dissociated vertical divergence, and neurolog...

BACKGROUND Globoid-cell leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive central nervous system deterioration. We investigated whether allogeneic hematopoietic stem-cell transplantation can provide a source of leukocyte galactocerebrosidase and thereby prevent the decline of central nervous system function in patients with the disease. METHODS Fiv...

conclusions in conclusion, the results of our study showed that the major viral pathogens that caused infantile diarrhea in zabol city were rotaviruses followed by adenoviruses and noroviruses. the results of our study can useful for prosperous control of infantile diarrhea. background viruses are one of the major reasons of gastrointestinal disease worldwide, and commonly infect children less ...

PURPOSE To map a gene responsible for infantile cataract in a large four-generation, non-consanguineous Chinese family. METHODS Twenty-two family members including 17 cataract patients in the Chinese family were analyzed clinically. All family members were genotyped with 382 microsatellite markers that provide genome-wide coverage every 10 cM. Linkage analysis was performed to identify the ch...