| Objectives To study the clinical and pathological characteristics . of neuronal ceroid lipoftiscinosis (NCL) ?Methods 9 patients with a confirmed diagnosis of NCL from our department, together with patients documented by CNKI and PubMed from 1994-1-1 to .2003-1-31.Results There are 227 patients in our study, among them 6 cases were adult neuronal ceroid lipofuscinosis (ANCL) ,207 cases were Juvenile neuronal ceroid lipofuscinosis (JNCL), 12 cases were late-infantile neuronal ceroid lipofuscinosis( LINCL), 2 cases were infantile neuronal ceroid lipofuscinosis (LNCL). The common clinical manifestations of the ANCL included seizures -. progressive myoclnus, dementia and motor impairment, with little visual impairment. The common clinical manifestations of the JNCL included visual impairment . seizures . progressive dementia, and limbs stiff ^ paralyduring . dysphagia. sleeping disorder microcephaly; acne and hirsutism are common findings in femal patients with JNCL, and heart can also be involved. The common clinical manifestations of the LINCL included myoclonus or overall tonic clonic seizure, dementia, limbs spastic paraplegia, regression of language function and ataxia. The common clinical manifestations of the INCL included retention ofmpsychomotor development, visual impairment and myoclonus; cherry erythema can be found in the fundus oculi. Pathological examination included that roution light microscopic study showed cortex neur swelled, light yellow granular deposited, glial cell swelled, microlia increased,and that, at ultrastructural level, osmiophilic granular inclusion deposits were found in all types,especially in the INCL and ANCL.Curvilinear body deposits were observed in LINCL,rarely in other types. Fingerprint body deposits were viewed in JNCL,rarely in ANCL and LINCL. EEG>CT and MRI provided worthy findings for diagnosis.Conclusion NCL has no specific clinical situation, the diagnosis of NCL depends on its clinical manifestations,ultrastrucural features . |
PDF Full Text Request