The Diagnostic Analysis Of Hereditary Nervous System Diseases With Bilateral Temporal Pole Whitematter Involvement

Objective: It is difficult to approach the diagnosis of genetic leukoencephalopathy due to its complex clinical manifestations and multisystem involvement.Recently,advances in neuroradiology and molecular genetics provide a basis for clinicians to search for the etiology.The aim of this study was to investigate the classification,relative clinical and neuroradiological features of hereditary nervous system diseases with bilateral temporal pole white matter involvement,and thus provide a reference for the clinical diagnosis and differential diagnosis.Methods: A total of 13 patients with bilateral temporal pole white matter involvement on MRI were collected from more than 150 hereditary nervous system diseases families in the Neurology Department of the First Affiliated Hospital of China Medical University.we collated the basic clinical informations of the 13 patients including age at onset,initial symptom and main clinical manifestations and drew family trees according to the hereditary characteristics.Finally,we analazed the clinical features,magnetic resonance features and genetic diagnosis datas of the 13 patients.Results: 1.In the13 patients with bilateral temporal pole white matter involvement,8were female and 5 were male,with an age range from 19 to 57 years old.The patients were derived from 12 families,among which 7 families were in accordance with the autosomal dominant inheritance law,and 5 families were in accordance with the autosomal recessive inheritance law.The diagnosis is as follows.5 cases were cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(3cases were confirmed through gene sequencing and 2 were possible);4 cases were Myotonic dystrophy Type-1;one case was Niemann-Pick disease type C;one case was Hereditary diffuse leukoencephalopathy with axonal spheroids;two cases were undiagnosed.2.The clinical manifestations of 5 patients with CADASIL were transient ischemic attack and ischemic stroke,and 2 patients had headache.Heterozygous mutation of NOTCH3 gene was found in 3 cases by gene detection.MRI showed that 2 cases had discontinuous outer capsule involvement,1 case had abnormal long T2 signal in bilateral frontal,parietal and fronto-parietal watershed areas.4 patients of DM1 had muscle atrophy and weakness,gene detection found that CTG repeats in 3'UTR region of DMPK gene were more than 50 times.NPC patients had memory impairment and limb activity clumsiness.Heterozygous mutation of NPC1 gene was detected by gene detection.Besides the long T2 signal of bilateral temporal polar and periventricular white matter,atrophy of the upper cerebellar lobe can be seen in the brain.Large patches of malacia were found in bilateral frontal lobe,left temporal lobe and insular lobe in HDLS patients with CSF1 R heterozygous mutations,accompanied with progressive mental retardation and motor symptoms.Extensive white matter involvement was seen in both patients with unclear diagnosis,involving brainstem and pons.Conclusion: Bilateral temporal pole white matter involvement can present not only in CADASIL,but also in many DM1 patients.In addition,some rare Hereditary nervous system diseases can show this features,such as NPC and HDLS.Patients with bilateral temporal white matter involvement in nervous system diseases should be carefully identified.