Progressive pseudorheumatoid chandrodysplasia simulating juvenile rheumatoid arthritis

Four patients from a Muslim family with an inherited skeletal dyspiasia are presented. It is more crippling than usual form of spondyloepi-physial dyspiasia tarda and the onset is very early in the life i.e. at 4 years. The disorder is progressive, crippling and has striking clinical resemblance to juvenile rheumatoid arthritis. The striking X-ray appearance is of platyspondyly and irregularities of capital femoral epiphysis. There is absence of any synovitis. Two of these patients are females aged 8 years and 18 years. The third patient is their cousin brother aged 6 years and their uncle who is of>50 years old and crippled.     

Progressive pseudorheumatoid arthritis of childhood (PPAC)

Five patients are described with a hereditary arthropathy affecting major and minor joints. The main features of this progressive connective tissue disorder are restricted joint mobility, osseous swelling of the interphalangeal and other joints, and platyspondyly. The condition is commonly misdiagnosed as chronic juvenile polyrthritis with Scheuermann disease. It differs from the rheumatoid-factor-negative polyarticular form of rheumatoid arthritis and other rheumatoic spondylarthropathies by the absence of arthritic and other inflammatory changes, radiographically by the absence of destructive and the presence of dysplastic bone changes. The disorder does not seem to respond to the usual forms of antirheumatoid treatment. Histological studies showed a peculiar, nest-like clustering of chondrocytes in the resting and growth cartilage suggesting that pathogenetically this is a primary disorder of the articular cartilage.Supported by the Stiftung Volkswagenwerk     

Koilonychia, dome-shaped epiphyses, and vertebral platyspondylia

A 2.5-year-old girl presented with koilonychia since birth and was subsequently found to have dome-shaped femoral epiphyses and platyspondylia with anterior central tongues on a skeletal survey.     

An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia

We present a child with irregular ossification of tubular bone epiphyses, short bones, and spine. The radiographic evolution of bones undergoing endochondral ossification was followed from the age of 1 year 9 months to 6 years. The unusual features demonstrated in this child made classification difficult: pseudoachondroplasia was excluded because no mutations of the COMP gene were found. Considering the evolution of the radiographic appearances, the most likely diagnosis would seem to be an unusual form of spondyloepiphyseal dysplasia, mimicking some aspects of multiple epiphyseal dysplasia. Endochondral ossification was diffusely altered with a mixture of epiphyseal ossification delay associated with acceleration and early fusion. This case was a unique presentation within the family, suggesting a mutation in the affected child.     

Progressive diaphyseal dysplasia mimicking childhood myopathy: Clinical and biochemical response to prednisolone

Abstract Two siblings presented with symptoms suggestive of myopethy: the true diagnosis of Engelmaann's disease was delayed until X-rays revealed the characteristic sclerosis and widening of long bone diaphyses. Dominant inheritance from their father had not been suspected because of his lack of symptoms. Biochemical studies of bone metabolism did not elucidate the underlying mechanism. Prednisolone dramatically improved the clinical condition, particularly in the more severely affected child. While research into the biochemical basis must continue, paediatricians should remeber to X-ray the long bones of 'myopathic' children, and offer steroids when the clinical condition warrants.     

��ͯѪ�Ѳ��ǹؽڲ���ģ̬Ӱ��ѧ����

??The multimodal imaging method can be used to asseses hemopiliac arthropathy in different periods?? different degree and even different areas of the joints.In order to comprehend the understanding on pathological changes of hemophilic osteoarthropathy and clinical treatment strategy needs?? and to provide accurate imaging diagnosis and prognosis evaluation??we need to know the characteristics and evaluation range in different imaging methods and the selection and put this into the clinical application and scientific research qualitatively and quantitatively. The imaging examination and evaluation system can evaluate early changes objectively and comprehensively and provide individual assessment for hemophilic arthropathy??which plays an important role in the diagnosis??staging?? treatment and follow-up of hemophilic arthropathy.     

Progressive dystonia with marked diurnal variation

A8 year old girl with progressive dystonia with marked diurnal variation who showed marked response to L-DOPA therapy, is being discussed to highlight the need for prompt recognition of this treatable disease.     

Progressive Muscular Dystrophy in Denmark

ABSTRACT. Prevalence of progressive muscular dystrophy in 1965 and incidence in Denmark for the period 1965 to 1975 was studied by collection of data from hospital departments, nursery homes and general practitioners. This material was supplemented with information from death certificates and disablement pension records. Total patient group included 445 patients with progressive muscular dystrophy alive January 1st 1965. Prevalence was 69.4 per 10⁶ male inhabitants in the Duchenne type, whereas the prevalences in the limb-girdle and facioscapulohumeral types were 36.5 and 18.6 per 10⁶ inhabitants, respectively. Incidence was 222 per 10⁶ male newborns in the Duchenne type, 66 and 26 per 10⁶ newborns for the limb-girdle and the facioscapulohumeral types, respectively. Figures for the Duchenne type are in agreement with previous results. Both prevalence and incidence rates for the limb-girdle and the facioscapulohumeral types exceed published figures by a factor 3 to 6. These high Danish rates seem to reflect the true prevalence and incidence in the less serious types of progressive muscular dystrophy, probably because the Danish health system with free medical care and easy access to specialized hospital departments makes it possible to identify all cases of progressive muscular dystrophy.     

Progressive vascular lesions in Williams-Beuren syndrome

Summary We report two patients with Williams-Beuren syndrome. The first patient showed no evidence of coarctation of the aorta at the first examination. Seven years later, she developed coarctation of the aorta. In the second patient, we found the progression of renal artery stenosis by serial angiography. We report that vascular lesions may be progressive in Williams-Beuren syndrome.     

��Ƶ�������Ź�������Ѫ�Ѳ��ǹؽڲ������ʱȽ��о�

??Objective To discuss the value of combination of high frequency ultrasound and MRI in assessment of changes of joints involvement in children with haemophiliac arthropathy. To compare the consistency of the two methods in detecting the disease. Methods Totally 17 cases of children with hemophilia were included??and 6 knee joints??6 ankle joints and 5 elbow joints were performed by ultrasonic and MRI examination. According to IPSG scores??assesement of effusion/hemothrosis??hemosidaring??cartilage loss and bone cyst was performed to get the comparison of two kinds of examination method in the detection consistency of soft tissue and osteochondral lesions. Results The two kinds of examination methods for detection of joint disease has a high consistency in synovial thickening?? hemosiderin deposition??cartilage loss and bone destruction??Kappa??1.000??0.850??0.761 and 0.876??P??0.05????in joint effusion they showed medium consistency??and kappa value was 0.605??P??0.01??. Detection consistency in joint cyst was poor??and Kappa value was 0.261??P??0.110??. Conclusion??On the detection of soft tissues and osteochondral joint changes of hemophilia in children?? ultrasound and magnetic resonance imaging have poor consistency in the bone cyst??while in the detection of other pathological changes??two kinds of examination have high consistency in detection rate.     

Spondyloepiphyseal dysplasia congenita A cause of lethal neonatal dwarfism

Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.     

Progressive interstitial pulmonary lobar emphysema

Progressive pulmonary interstitial lobar emphysema is a complication of artificial ventilation in premature infants with RDS. Three cases are presented who developed a progressive form of PIPE. It is demonstrated that PIPE is caused by air escaping through alveolar leaks into the pulmonary lymphatic capillary system causing dilation of lymphatic channels. Because of its increasing compressive effect on adjacent lung areas PIPE requires rapid and effective therapy. Although several types of conservative approach are suggested, lobectomy appears to be the method of choice. Lobectomy is not indicated when prolonged ventilation with high pressures and high concentrations of oxygen have caused severe bronchopulmonary dysplasia.     

Progressive bulbur paralysis(Fazio-Londe disease)

Progressive bulbar paralysis of childhood is characterised by progressive paralysis of muscles innervated by cranial nerves. The authors report a case of progressive bulbar paralysis of childhood in a 12-year-old child. Child was admitted with the complaints of drooping of eyelids, difficulty in swallowing and hoarse voice. She had involvement of III, VII, IX, X, XI and XII cranial nerves and the corticospinal tracts. Electromyography revealed spontaneous activity in the form of fasciculations, giant motor unit potential and discrete recruitment of motor neurons suggestive of denervation pattern. Hearing assessment was normal. Muscle biopsy was also suggestive of neurogenic atrophy.     

Progressive stridor: could it be a congenital cystic lung disease?

Bronchogenic cyst of the mediastinum, a cause of stridor early in life, is the result of abnormal budding of the ventral segment of the primitive foregut. Bronchogenic cysts are often asymptomatic in older children and adults. However, symptomatic cases usually manifest early in life with cough, stridor or wheezing due to airway compression. We report a female infant aged 4.5 months with a normal full-term pregnancy, who developed respiratory distress with stridor. This stridor was preceded by a history of slowly progressive noisy breathing. Physical examination revealed evidence of bilateral obstructive emphysema. Chest radiograph revealed bilateral overinflation. Fibro-optic bronchoscopy revealed posterior mediastinal compression. Possibility of congenital cystic lung disease (CCLD) was considered, emphasizing the value of computed tomography (CT) chest, which revealed a cyst probably bronchogenic. Surgical excision was performed with evident histological confirmation of bronchogenic cyst.
Conclusion:  we highlight that in any infant, presented with slowly progressive noisy breathing in the first year of life, CCLD should be considered in the differential diagnosis even with normal X-ray chest. CT chest should be performed for exclusion or diagnosis of the case.