Radiographic type I autosomal dominant osteopetrosis with syringohydromyelia

A case of radiographic type I benign osteopetrosis with syringohydromyelia is presented. MRI revealed diffuse sclerosis of the bone marrow in the thick cranial bones and narrowing of the foramen magnum and subarachnoid spaces, especially in the posterior cranial fossa, and syringohydromyelia.     

Slipped capital femoral epiphysis in a patient with type II autosomal dominant osteopetrosis

We report on a 13-year-old boy who had a slipped capital femoral epiphysis and was found to have type II benign autosomal dominant osteopetrosis. This association has not previously been reported.     

Cranial CT of autosomal recessive osteopetrosis

Eight infants with radiographic and bone biopsy evidence of autosomal recessive osteopetrosis were evaluated by cranial CT. The clinical presentations and CT characteristics support the theory that this disorder exhibits severe and mild variants. At an early stage the severe variant demonstrates small optic canals, small orbits with proptosis, and a small nasoethmoid complex without significant bone thickening. The paranasal sinuses show bud formation but no pneumatization. The temporal bone retains a fetal appearance with trumpet-shaped internal auditory canals, prominent subarcuate fossae, and no mastoid pneumatization. The ventricles and subarachnoid spaces are enlarged. Bone thickness increases with age, leading to further orbital encroachment. Similar but less severe features are present in the mild variant. Underdevelopment of the orbits, nasoethmoid complex, and temporal bone suggests that delayed maturation is the primary morphologic abnormality of the skull base in osteopetrosis, and that bone thickening is a secondary manifestation caused by reduced bone turnover.     

Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease

In this study we analysed the imaging patterns in two families containing five members with asymptomatic and uncomplicated autosomal dominant osteopetrosis (ADO II), and we report new and uncommon radiological manifestations. These findings might be useful in the context of reducing the incidence of fractures and other orthopaedic complications. Diffuse pelvic sclerosis on radiographs was observed incidentally in two patients. Both cases were asymptomatic, and the patients had never suffered a fracture. The suggestion of ADO II was raised. A detailed medical history, an imaging survey, and a haematological study were obtained so that other rare causes of osteosclerosis could be ruled out. No genetic study was conducted. All their first-degree relatives were also examined. Bony sclerosis was observed in five patients, and the radiological findings were analysed. A not previously reported thickening of the skull base without cranial nerve palsy or optic nerve atrophy was revealed in all patients. Scoliosis was present in three of them. This has been reported previously only once in ADO II. No lower limb deformity was detected. This study provided information on the pattern of radiological features in familial asymptomatic ADO II. These data on new and rare imaging findings will increase the diagnostic awareness of physicians and will guide a thorough investigation of the entire family. This might result in a consequent decrease in the incidence of fractures and other orthopaedic complications.     

MRI of autosomal dominant pure spastic paraplegia

We examined 16 patients with autosomal dominant pure spastic paraplegia (HSP) and 15 normal controls matched for age and sex using MRI of the brain and spinal cord. Images were assessed qualitatively by two independent radiologists, blinded to the clinical diagnosis. Areas of the brain and corpus callosum on one midsagittal slice and the area of the brain on one axial slice were measured and a “corpus-callosum index” expressing the size of the corpus callosum relative to that of the brain was calculated. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord at the levels of C 2, C 5, T 3, T 6, T 9 and T 11 were measured. No significant differences between patients and controls were found on qualitative evaluation of the images. The patients had a significantly smaller corpus callosum and “corpus-callosum index” than controls. This finding, not reported previously, might indicate that the disease process in pure HSP is not confined to the spinal cord. The anteroposterior diameters of the spinal cord at T 3 and T 9 were significantly smaller in patients than in controls. This might correspond to the degeneration of the pyramidal tracts and the dorsal columns described at neuropathological examination. Received: 8 August 1996 Accepted: 16 December 1996     

CT in autosomal dominant and idiopathic cerebellar ataxia

Signs of atrophy on cranial CT were investigated in 35 patients diagnosed as suffering from autosomal dominant (n=21) or idiopathic (n=14) cerebellar ataxia. Thirteen patients with a pure cerebellar syndrome were examined after at least 4 years of disease (mean duration 10.5 years) and were classified as cerebellar atrophy (CA). Twenty-two patients with additional non-cerebellar signs were classified as olivo-ponto-cerebellar atrophy (OPCA). Four (30%) of the patients with CA had atrophy of the brain stem in addition. Of the 22 patients with OPCA, 9 (40%) had atrophy of the cerebellum only. In patients with CA or OPCA correlation of clinical signs with severity of atrophy on CT was poor. Atrophy on CT often fails to differentiate autosomal dominant or idiopathic cerebellar ataxias in CA or OPCA: patients with CA can also have atrophy of the brain stem and patients with OPCA do not necessarily show brain stem atrophy.     

常染色体显性遗传Alport综合征的家系调查及免疫组化研究

 目的 通过对一Alport综合征患者的家系调查、肾活检分析及免疫组化研究,明确其临床诊断,确定其遗传方式。方法 对患者3代以内的亲属共15例进行尿常规检查;对患者的肾活检标本进行病理检查;并运用抗Ⅳ型胶原的IgG、抗Ⅳ型胶原α3和α5链的IgG对患者的肾活检冰冻切片进行免疫组化研究。结果 经肾活检病理检查,进一步证实了Alport综合征的临床诊断,家系调查符合常染色体显性遗传,间接免疫荧光检查表明该患者肾小球基底膜上Ⅳ型胶原α3和α5链分布正常。结论 该Alport综合征家系的遗传方式符合常染色体显性遗传,常染色体显性遗传的Alport综合征肾小球基底膜上Ⅳ型胶原α3和α5链分布正常。     

Cranial imaging in autosomal recessive osteopetrosis. Part I. Facial bones and calvarium.

Cranial imaging studies (radiographs, computed tomographic [CT] scans, magnetic resonance [MR] images, and bone marrow scintigrams) in 13 infants and children with autosomally recessive osteopetrosis were reviewed to characterize patterns of facial and calvarial involvement at presentation and with progression of disease. In the mandible, a characteristic triangular opacity representing calcification within the secondary condylar cartilage ossification center was seen in 10 of the 13 patients. Defective dentition with incomplete enamel formation and/or caries was encountered in all patients. The paranasal sinuses were poorly pneumatized in all patients, but the ethmoid sinuses tended to be the least severely affected. Hypertelorism was present in five of the 13 patients, with a characteristic "space-alien" appearance on frontal radiographs. In younger patients, the calvarium demonstrated a high-attenuation inner table, a broad, low-attenuation diploic space, and a less high-attenuation outer table at CT. In three older children, a "hair-on-end" appearance was seen, which, at bone marrow scintigraphy, corresponded to areas of marked hematopoietic activity. Regions of sclerotic bone demonstrated low signal intensity on both T1- and T2-weighted MR images; areas containing marrow had intermediate signal intensity. These many new radiologic features of osteopetrosis are related to its pathophysiologic characteristics.     

CT in the evaluation of complicated autosomal dominant polycystic kidney disease

Purpose: We retrospectively reviewed the CT findings in 24 cases of autosomal dominant polycystic kidney disease (ADPKD) to assess the role of CT in the diagnostic work-up of patients with complicated ADPKD.Material and Methods: Twenty-four patients with ADPKD underwent unenhanced and contrast-enhanced CT for flank pain, haematuria, or fever. The images were retrospectively reviewed for presence of complicated cysts, their morphological features and associated findings in the perinephric space/retroperitoneum.Results: Cyst haemorrhage was present in all patients, seen as high-density cysts, which were mostly bilateral. Most of these cysts had sharply outlined contours, sharp interfaces with adjacent renal parenchyma, imperceptible walls, and homogeneous density, and did not enhance following i.v. contrast administration. However, a few haemorrhagic cysts (9 cysts in 6 patients) showed inhomogeneous density (n=7), dependent layering of high-density blood leading to fluid-fluid level (n=2), and contour irregularity (n=3).CT revealed presence of cyst infection in 6 cases; the involved cysts were larger (average size 4.2 cm) than adjacent cysts, had only a mildly increased or near water density, and showed wall thickening and enhancement. Other findings included air within the infected cyst (n=1), thickening and enhancement of peri- and paranephric fasciae (n=5), and abscesses in the posterior paranephric space and adjoining psoas muscle (n=2). In 2 other patients, although CT suggested cyst infection because of presence of wall enhancement, diagnostic needle aspiration revealed only sterile haemorrhagic fluid. In 1 case, CT revealed a soft tissue density enhancing mass in one of the cysts; this proved to be a renal cell carcinoma by fine-needle biopsy. Calculi were observed in 7 patients, and cyst wall calcification in 11 cases.Conclusion: A combination of unenhanced and contrast-enhanced CT allows correct diagnosis and differentiation amongst the various complications affecting patients with ADPKD. However, in a small subgroup of patients, it may not be possible to differentiate between haemorrhage and infection; such cases require diagnostic needle aspiration for diagnosis.     

1H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms

Introduction

Adult-onset ADLD with autonomic symptoms is a rare disease with a clinical course somewhat similar to chronic progressive MS but with different imaging findings consisting of extensive white matter changes in the cerebrum and cerebellar peduncles. Patients usually present in the fourth to sixth decade with autonomic symptoms, manifesting later symptoms from the pyramidal tracts and ataxia. Here, we present magnetic resonance spectroscopy (MRS) findings in this disease.

Methods

Fourteen subjects, from two non-related families, with genetic linkage to the disease were studied with magnetic resonance imaging and single-voxel MRS. Clinically, they ranged from asymptomatic to wheelchair-using. Their results were compared to those of age- and sex-matched healthy controls.

Results

One MRS was excluded due to suboptimal quality. The remaining 13 subjects manifested characteristic evidence of pathology on MRI, 11 of them exhibited extensive changes. The metabolite concentrations of total Cr, total Cho, and total NAA measured in millimolars, using internal water as a reference, were significantly lower in these 11 subjects compared to controls, and we found linear correlations between all these metabolite levels. When total Cr was used as a reference, we found no difference between subjects and controls. No lactate was detected.

Conclusion

The decreased metabolite concentrations measured using internal water as a reference are most likely due to increased water content in the tissues, diluting all metabolites to a similar degree. This is also in agreement with the high signal intensity exhibited in the white matter on T2-weighted MR images and with the reported histopathological findings of vacuolated myelin.     

Erythropoietin-producing renal cell carcinoma arising from autosomal dominant polycystic kidney disease

Erythropoietin (EPO)-producing renal cell carcinomas (RCC) in patients with chronic renal failure secondary to autosomal dominant polycystic kidney disease (ADPKD) has not previously been reported. We report a case of EPO-producing RCC associated with ADPKD in a 66-year-old woman, and discuss the clinical and radiological findings.     

Epiphyseal osteochondromas with autosomal dominant inheritance and multiple parosteal bone proliferations

The familial cases of dysplasia epiphysealis hemimelica (DEH), or Trevor’s disease, are thought to represent dominant carpotarsal osteochondromatosis (DCO). Only three families affected by DCO have been reported so far in the literature. We report a fourth family: a 10-year-old girl, her father, and his cousin. Unlike the other reported cases of DCO this family had no carpal or upper limb epiphyseal osteochondromas and many of the other reported associations. The only consistent associated finding in our cases was the presence of multiple parosteal osteochondromatous proliferations. The findings of our cases are, therefore, unique in many ways. These cases may represent a variant of dominant carpotarsal osteochondromatosis or may represent a new entity.     

常染色体显性遗传非综合征型耳聋家系的遗传学特征分析

目的 研究一个连续5代遗传的耳聋大家系(Z029家系),分析该家系的遗传学特征.方法 利用解放军总医院耳鼻咽喉研究所遗传性耳聋资源收集网络采集到一个5代遗传性耳聋大家系,对具有遗传信息的47例成员进行了全身系统检查及临床听力学检测,应用Cyrillic2.1软件构建家系图谱,分析该家系的遗传学特征.结果 Z029家系的表型表现为全频听力下降为主、迟发型的感音神经性耳聋,连续5代发病,男女成员均受累,每代患者的比率随着年龄增长具有逐渐增加的趋势,符合延迟显性的特征.结论 Z029家系是一个非综合征型常染色体显性遗传性耳聋大家系,其表型的外显率与年龄相关.该研究为进一步的致病基因定位与克隆奠定了基础,并为与年龄相关性耳聋分子病理机制的研究提供了模板.     

Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia

Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders characterized by progressive lower extremity weakness and spasticity. HSP pathology involves axonal degeneration that is most pronounced in the terminal segments of the longest descending (pyramidal) and ascending (dorsal columns) tracts. In this study, we compared spinal cord magnetic resonance imaging (MRI) in 13 HSP patients with four different types of autosomal dominant hereditary spastic paraplegia (SPG3A, SPG4, SPG6, and SPG8) with age-matched control subjects. The cross-section area of HSP subjects at cervical level C2 was 59.42±12.57 mm² and at thoracic level T9 was 28.58±5.25 mm². Both of these values were less than in the healthy controls (p<0.001). The degree of cord atrophy was more prominent in patients with SPG6 and SPG8 who had signs of severe cord atrophy (47.60±6.58 mm² at C2, 21.40±2.4 mm² at T9) than in subjects with SPG3 and SPG4 (66.0±8.94 mm² at C2, p<0.02; 31.75±2.76 mm² at T9, p<0.001). These observations indicate that spinal cord atrophy is a common finding in the four genetic types of HSP. Spinal cord atrophy was more severe in SPG6 and SPG8 HSP subjects than in other types of HSP we studied. This may suggest a different disease mechanism with more prominent axonal degeneration in these two types of HSP when compared with HSP due to spastin and atlastin mutations.     

MRI isolation of infected renal cyst in autosomal dominant polycystic kidney disease

The use of gadolinium-enhanced magnetic resonance (MR) to isolate an infected renal cyst in the setting of autosomal dominant polycystic kidney disease (ADPKD) has not been previously described. A case in which T1- and T2-weighted and gadolinium-enhanced MR images were used to identify a single purulent cyst in a patient with ADPKD is herein presented. We suggest that gadolinium-enhanced MR be considered useful in the evaluation of ADPKD patients with suspected infected cyst.