Clinical, genetic and cerebral ultrastructural features of late infantile neuronal ceroid lipofuscinosis:a ease report / 中华神经医学杂志

Objective To study the clinical, histopathological and inheritance features of late infantile neuronal ceroid lipofuscinosis (LINCL). Methods The clinical manifestations and family history of a 4-year-old girl with an established diagnosis of LINCL were investigated and the findings in EEG, magnetic resonance imaging (MRI) and histological examination were analyzed. Results EEG of the patient showed diffuse background slowing with bursts of generalized spike-and-wave discharges or polyspike-and-wave activity. Brain MRI for her and her brother revealed brain atrophy, especially diffuse cerebellar atrophy. Histopathological examination also showed diffuse damages in the gray matter where numerous degenerated and atrophic neurons were found. Some immature neurons occurred in the disrupted cortical lamination. Electron microscopy revealed numerous osmiophilic granular lipofuscin inclusions in the cytoplasm of the neurons. Conclusion This patient presented with typical clinical and cerebellar ultrastructural features of LINCL, but the inheritance characteristics of the patient and the prominent lipofuscin pigments in the neurons suggest a case of new LINCL variant.

Mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes:clinical manifestations and gene mutation analysis / 中华神经医学杂志

Objective To investigate the characteristic clinical manifestations and gene mutations in mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes(MELAS).Methods The clinical manifestations,imaging data and muscle pathologies of a patient with MELASwere analyzed,and the mutations in the mitochondrial DNA were investigated using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)and gene sequencing.Results MELAS was clinically characterized by such symptoms as recurrent headache and vomiting,stroke-like episodes,epilepsy,intolerance to exercise,short stature,nerve deafness and lactic acidosis.CT scan demonstrated bilateral basal ganglia calcification,and magnetic resonance imaging(MRI)showed abnormal signals in the occipital lobe.Proton magnetic resonance spectroscopy revealed a visible peak of lactic acid in the area with T2-weighted abnormal signals,while a low peak of lactic acid was identified in the area with T2-weighted normal signals.Muscle biopsy did not find any mitochondrial anomalies.A heterozygous A 3243G mutation in the mitochondrial DNA was found in this patient.Conclusion The diagnosis of MELAS relies on a comprehensive analysis of the clinical features,imaging findings,pathological results and genetic analysis.Normal pathological results do not rule out the possibility of MELAS.Mitochondrial DNA mutation analysis should be carried out as a routine procedure for identifying MELAS.