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A case of late-onset methylmalonic aciduria combined with hyperhomocysteinemia (cblC type) is reported. The main manifestations were the reduction of intelligence,the instability of walking,and the inability to take care of oneself,with secondary cerebral hemorrhage. The effect of treatment was good. MMACHC gene mutation detection showed exon1 deletion, indicating that delExon1 is one of the causes of late onset methylmalonic aciduria, cblC type.
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Spinal vascular disease is rare in clinic, especially in cases of spinal cord embolism caused by abnormal embolism. It is rare in clinic and has not been reported in China. We report a case of pulmonary embolism complicated with abnormal spinal cord embolism due to lack of protein S activity and analyze its clinical data in order to improve clinical understanding of the disease.
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Objective To explore the clinical features of Kennedy disease .Methods The clinical data of 3 patients with Kennedy disease was respectively analyzed .Results All three patients were middle-aged male and had a chronic onset .Patients were mainly presented with the muscle weakness and fasciculation in the proximal limb and bulbar , and the symptoms grow progressively .Two patients were hyperplasia of mammary glands , 3 patients had high levels of serum creatine kinase , and 2 patients'serum testosterone level was increased .EMG detected a widespread neuronal damage in all three cases , and the sensory conductions were abnormal in 2 patients.Repeat numbers of CAG in exon 1 of androgen receptor gene of 2 patients were tested, and they were 57, 47 respectively.Conclusions The clinical features of Kennedy disease are muscle weakness and androgen insensitivity syndrome in male patient and EMG presented with motor neuron damaged .Repeat number of CAG in exon 1 of androgen receptor gene is increased.
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Objective To study features of the MRI and clinic in a family with pure hereditary spastic paraplegia (PHSPG) type 6.Methods Target loci (SPG3, 4, 6, 8 10 and 12) linkage analysis was performed in a SPG pedigree having 6 affected individuals using microsatellite markers and NIPA1 gene was screened for mutation by PCR-amplification and sequencing. MRI of brain and cervical and thoracic spinal cord were examined in these 6 patients and 6 normal controls matched for age and sex by two independent radiologists blinded to the clinical diagnosis. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord at the levels of C2～3, C7, T1～4, T9 were measured and data was statistically analyzed using the student's t test. Results A missense mutation of 316g→c in NIPA1 was identified in the affected subjects, presumably resulting in substitution of glutamic acid for arginine in residue 106. Evaluation of the brain MRI images revealed non-specific brain abnormalities. All patients presented thinning of cervical and upper thoracic spine with atrophy in both gray and white matter and enlarged subarachnoid cavity. In severe atrophic segments, a distinct boundary between grey and white matter was observed and the lesions in grey matter presented literal high intensity spots or patches with clear boundary on transaxial T2-weighted images (T2WI) and high signal intensity longitudinal strip on the sagittal T2WI. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord at C2～3, C7, T1～4 were significantly smaller in patients than in controls, while at the T9 level only transverse diameter showed significant difference (7.22±0.08 vs 8.17±0.41, t=2.870, P=0.046). Conclusions These findings indicate that the disease process in patients with SPG6 might be confined to the cervical and thoracic spinal cord, with atrophy in both white and grey matter having a distinct boundary.