Kongenitale Hüftdysplasie,Screening und Therapie

Congenital hip dysplasia and hip dislocation are relatively common pathological conditions of the musculoskeletal system in infants. An early and certain diagnosis can now be achieved by sonographic hip screening within the framework of screening examination programs. This early diagnostic procedure in infants is essential particularly for a conservative treatment strategy. Therefore, apart from possessing in-depth knowledge, training of the examiner in specialist courses is of central importance. This article presents an overview of the entity of congenital hip dysplasia and hip dislocation, the diagnostics and treatment with special emphasis on recent developments.     

显性脊柱裂术后脊髓再栓系的诊断和治疗

目的 囊性脊柱裂手术后,脊髓因纤维瘢痕粘连而造成脊髓栓系,使得神经损害症状加重或产生新的症状。本文就该病的诊断及治疗进行分析。方法 对１４例脊髓脊膜膨出或脂肪脊髓脊膜膨出修补术后病例资料进行分析。再手术时年龄２～１２岁,术后随访３～１２个月,对大小便失禁分别采用Ｋｅｌｌｙ评分法及Ｂｒｕｓｋｅｗｉｚｅ评分法。结果 第一次术后１０例原有的神经损害症状进一步加重,４例无神经损害症状者术后产生新的症状。Ｍ     

Spina bifida cystica: selective management in Zaria, Nigeria

Management of spina bifida cystica in Zaria, Nigeria is selective. Over a period of 11 years, 77 children with this defect, 54 meningocoeles and 23 myelomeningocoeles, 66 (86%) situated in the lumbosacral region, were treated operatively. Forty-two (55%) had surgery in the neonatal period and 91% within 6 months of birth. Postoperative complications occurred in 19 of 68 patients (28%), including mild hydrocephalus, which resolved spontaneously (six, 9%), wound infection (six, 9%), leakage of cerebrospinal fluid (four, 6%) and meningitis (three, 4%). Mortality was 3% from both meningitis and cardiac arrest. Of 32 patients followed up for 3-5 years, 20 with meningocoeles were normal. Of 12 with myelomeningocoele, four had varying degrees of lower limb weakness, three double incontinence, two faecal incontinence, two had progressive hydrocephalus plus paralysis and double incontinence, and one had urinary incontinence. Therefore, 38% were functionally disabled and could not be adequately rehabilitated owing to poor facilities. While management of spina bifida cystica is more aggressive now in most developed countries, ours remains selective due to difficulty with multidisciplinary care and rehabilitation. Even with our selective management, the care of patients with functional handicap remains a challenge.     

Are myo-inositol,glucose and zinc concentrations in amniotic fluid of fetuses with spina bifida different from controls?

OBJECTIVE: Associations are reported between myo-inositol, glucose, zinc and the occurrence of spina bifida. To gain more insight into the pathogenesis of spina bifida, the concentrations of myo-inositol, glucose and zinc were determined in amniotic fluids from pregnancies with a spina bifida or unaffected control fetus. METHODS: Amniotic fluids of 27 pregnancies complicated by spina bifida and 49 controls were collected at the Department of Obstetrics and Gynecology of the University Medical Center Nijmegen in the Netherlands. Myo-inositol, glucose and zinc concentrations were determined. By indication, the samples were taken at different gestational ages. Therefore, the data were evaluated using multiple linear regression analysis to adjust for gestational age. RESULTS: Amniocentesis was performed at a more advanced gestational age in the spina bifida group than in controls. In the spina bifida group, amniotic fluid myo-inositol, glucose and zinc concentrations gradually declined throughout pregnancy. At a gestational age of 15 weeks, the estimated mean amniotic fluid glucose and zinc concentrations in the spina bifida group were, respectively, significantly lower (p< or =0.5) and higher (p< or =0.5) compared with the control group. At the same gestational age, the estimated mean myo-inositol concentrations were comparable in both groups. At a gestational age of 38 weeks, the estimated mean myo-inositol, glucose and zinc concentrations were not significantly different in the spina bifida compared with the control group. CONCLUSION: This study may suggest that a derangement in zinc and glucose transfer or metabolism is associated with spina bifida. Since compounds in amniotic fluid are only a very crude marker of the actual fetal condition, studies that focus on the metabolism of these compounds on tissue or even cellular level should be performed to clarify their role in the pathogenesis and future prevention of spina bifida.     

Pattern and factors affecting management outcome of spina bifida cystica in Ile-Ife, Nigeria

BACKGROUND AND OBJECTIVE: There is paucity of data on the pattern and factors affecting the management outcome of patients with spina bifida cystica in the Ife-Ijesa zone, Nigeria. This study was designed to address this research question. METHOD: One hundred and six consecutive cases of spina bifida cystica who presented in our hospital from January 1990 to December 2004 were reviewed. We obtained information on sociodemographic factors, medical history and management as well as clinical outcome. SPSS was used to analyze the data. RESULT: Males constituted 54.7% and females 45.2% of cases. Mortality was high in those presented after the 4th week of life (p = 0.04). The malformation occurred in the lumbar and lumbosacral regions in 77.4%. Myelomeningocele was the most common type (86.8%). Hydrocephalus was recorded in 53.8% of patients. Surgical closure was done for 91.5% of the patients. About 77% of all the patients were discharged while 22.7% died. This was significantly related to age at presentation (p = 0.04) and infection before surgery (p = 0.045). Postoperative complications were more frequent in patients with ruptured lesions (p = 0.025), a larger size of defect (p = 0.028) and a lower birth weight (p = 0.006). CONCLUSION: Myelomeningocele is the most common type of spina bifida cystica in our environment. Late presentation and preoperative infection are associated with high mortality in our patients.     

The diagnosis and management of congenital dislocation of the hip

Congenital dislocation of the hip (CDH) or developmental dysplasia of the hip (DDH) is a common condition that encompasses a spectrum of pathology affecting the neonatal hip. Clinical signs of instability may be difficult to detect at birth using the Barlow Ortolani test. A clear imperative is to make an early diagnosis since delay after 3 months is synonymous with the necessity for surgery and also leads to a compromised prognosis. There is considerable controversy about clinical screening for DDH or ultrasound screening, either comprehensive or selective. Risk factors – such as breech presentation, oligohydramnios and talipes – are well known and there is some evidence that selective screening for these babies with ultrasound may assist diagnosis. The incidence of neonatal hip instability is around 15–20 per 1000 live births but that of established dislocation 1–2 per 1000 live births in unscreened cohorts. The usual early treatment is with the Pavlik harness but after 3 months, surgery – either an open or closed reduction – is necessary and in some surgically untreated children, secondary procedures such as pelvic osteotomy are necessary.     

The congenital dislocation of the hip joint in ultrasound examination--frequency, diagnosis and treatment

BACKGROUND: A real congenital dislocation of the hip joint is very rare. Because of the severeness of the disease an immediate diagnosis and begin of treatment is required. PATIENTS: Between 1984 and 1995 clinical and sonographic screening examinations at 4177 newborns were performed at our hospital. METHODS: We analyzed our patients retrospectively and found out all cases of congenital dislocation of the hip joint. All these cases were classified and the results of treatment were determined. The clinical success of our strategy of treatment was described. RESULTS: Among the 4177 observed newborns 39 cases of congenital dislocation of the hip joint in 27 children were found. We diagnosed the hip type IIIa, IIIb and IV according to Graf in 28.2 and 9 cases respectively. After 12 month a complete healing rate of 95 percent was exhibited with the functional management strategy. Five percent of the affected joints showed a residual dysplasia. The rate of residual dysplasias was 2.5%. CONCLUSIONS: The good prognosis after our early treatment strategy severe congenital dislocation of the hip joint underlines the use of earliest therapy together with a hip screening program.     

Increased incidence of spina bifida occulta in fluorosis prone areas

Spina bifida, a congenital deformity of the posterior wall of vertebrae of the spine, is a midline defect of skin, vertebral arches and neural tube, usually in the lumbosacral region. Its incidence is reported to be 0.2 to 0.4 per 1000 live births. Various hypotheses have been put forward as etiological factors for spina bifida including consumption of potato affected by blight and hardness of drinking water but these have not been proven. Two groups of 50 randomly chosen children were established. The study group consisted of children aged 5 to 12 years, weighing 15 to 30 kg, consuming fluoride rich drinking water (4.5 and 8.5 ppm fluoride; WHO permissible limit is 1.5 ppm fluoride), and manifesting either clinical, dental and/or skeletal fluorosis. The control group consisted of age and weight-matched children, consuming less than or equal to 1.5 ppm fluoride in drinking water and not showing any evidence of fluoride toxicity. These children were evaluated for antenatal history, general clinical examination (especially for dimples, tufts of hair, haemangioma on skin throughout the length of spine), other congenital abnormalities, evidence of fluoride toxicity, biochemical estimation for fluoride levels in blood and serum and by skiagrams of the spine to examine for the presence of spina bifida occulta. A total of 22 (44%) of the 50 children in group A, the study group, and 6 (12%) of the 50 children in group B, the control group, revealed spina bifida occulta in the lumbosacral region. The proportion of children with spina bifida occulta in these fluoride rich areas was thus 44%. Since this defect occurs during the antenatal period, these observations indicate that an association may exist between spina bifida occulta and high fluoride intake during the antenatal period.     

Natural rubber latex sensitisation and allergy in patients with spina bifida, urogenital disorders and oesophageal atresia compared with a normal paediatric population.

BACKGROUND: Natural rubber latex (NRL) contains proteins which, after repeated contact with latex products and an allergic predisposition (atopy), can lead to sensitisation (specific IgE against NRL proteins) or allergy (type 1 allergy with symptoms from urticaria to allergic shock). Spina bifida patients are known to be a high risk group for latex allergy and sensitisation due to numerous operations beginning soon after birth. In the study presented here we compared spina bifida patients with patients who also underwent repeated operations beginning soon after birth (urological malformations) or underwent surgery once in the neonatal period but had numerous anaesthesias because of repeated treatment with a bougie (oesophageal atresia). In this setting the influence of surgery and anaesthesia on NRL-sensitisation was investigated. MATERIALS AND METHODS: We investigated the prevalence of NRL-specific IgE (> 0.35 kU/l, ImmunoCAP system, Pharmacia) in a normal paediatric population (neither atopic nor having undergone surgery) (group I), spina bifida patients (group II), children with urogenital malformations (group III) and children with oesophago-tracheal malformations (group IV). RESULTS: The highest rate of NRL-sensitised patients was found in the spina bifida group (II) (48 %), followed by groups III and IV with 17 % each, compared to 4 % for the control group. NRL-allergic reactions were noted only in the patients with spina bifida and the urological malformation group (18 % in group II, 8 % in Group III). Apart from atopy the number of operations could be identified as a risk factor for the development of NRL-sensitisation and allergy (group II, III). The prevalence of latex allergy was lower after repeated anaesthesia (group IV) than after repeated surgery. CONCLUSIONS: In addition to the known high risk group of spina bifida patients, other patients with congenital malformations and early surgery also have a significant risk for latex sensitisation. When treating patients with malformations requiring repeated surgery, prophylactic measures similar to those for spina bifida patients should be considered.     

Spectrum of congenital malformations in the newborn

Of 6,274 consecutive live-births during 1975–78, 170 (2.7 percent) infants were diagnosed to have 241 major congenital malformations. The incidence of malformations among preterm was almost twice (5.3 per cent), while two-thirds of infants with internal malformations weighed less than 50th centile for their gestational age at birth. Musculoskeletal defects accounted for one-third of all malformations. Out of systemic defects, central nervous system anomalies were most frequent (12.9 per cent) while other system defects (except respiratory system) had an identical frequency of about 10 per cent. The incidence of neural tube defects was found to be 7 per 1000 total births. Among individual anomalies, club foot, spina bifida, polydactyly, left-to-right cardiac shunt, clef lip ±cleft plate, hydrocele, Down syndrome and congenital dislocation of hips had a frequency greater than 1 per 1000 live-births.     

Spina bifida--a vanishing nightmare?

Detailed analysis is presented on the dramatic decline in spina bifida births and other congenital central nervous system defects in the past 12 years, in both Sheffield and the rest of Great Britain. In Sheffield, there was an average of 20 spina bifida births per year up to 1972, but since then there has been a progressive fall to only one in 1984. This decrease may be partly attributable to antenatal diagnosis and terminations of affected pregnancies, but there is no known explanation for the rest of the fall, which has also been experienced throughout Great Britain. The virtual elimination of spina bifida is now possible, as long as the existing methods of prevention and antenatal diagnostic facilities are used even more fully. Relaxation of our effort and a reverse in the ''natural'' trend could bring the incidence of spina bifida back to where it was 15 years ago.     

Turned head--adducted hip--truncal curvature syndrome.

One hundred and eight neonates and infants who showed the clinical triad of a head turned to one side, adduction contracture of the hip joint on the occipital side of the turned head, and truncal curvature, which we named TAC syndrome, were studied. These cases included seven with congenital and five with late infantile dislocations of the hip joint and 14 who developed muscular torticollis. Forty one were among 7103 neonates examined by one of the authors. An epidemiological analysis confirmed the aetiology of the syndrome to be environmental. The side to which the head was turned and that of the adducted hip contracture showed a high correlation with the side of the maternal spine on which the fetus had been lying. TAC syndrome is an important asymmetrical deformity that should be kept in mind during neonatal examination, and may be aetiologically related to the unilateral dislocation of the hip joint, torticollis, and infantile scoliosis which develop after a vertex presentation.     

Turned head--adducted hip--truncal curvature syndrome

One hundred and eight neonates and infants who showed the clinical triad of a head turned to one side, adduction contracture of the hip joint on the occipital side of the turned head, and truncal curvature, which we named TAC syndrome, were studied. These cases included seven with congenital and five with late infantile dislocations of the hip joint and 14 who developed muscular torticollis. Forty one were among 7103 neonates examined by one of the authors. An epidemiological analysis confirmed the aetiology of the syndrome to be environmental. The side to which the head was turned and that of the adducted hip contracture showed a high correlation with the side of the maternal spine on which the fetus had been lying. TAC syndrome is an important asymmetrical deformity that should be kept in mind during neonatal examination, and may be aetiologically related to the unilateral dislocation of the hip joint, torticollis, and infantile scoliosis which develop after a vertex presentation.     

Urinary continence across the life course

Spina bifida is the most common defect of the central nervous system. It is a congenital malformation of the spine with abnormal neural tube closure occurring between the third and fourth weeks of gestation, and most frequently affecting the lumbar and sacral regions. Most children with spina bifida have a normal urinary tract at birth, although renal damage and renal failure are among the most severe complications of spina bifida. Before ventricular shunting, survival rates for children with spina bifida were low, but most patients can now be expected to live into adulthood, thus prevention of urologic complications and promotion of continence have become critical. This article reviews the literature regarding urinary continence, and discusses issues across the lifespan, and implications for clinical practice and the pediatrician's role in the urologic care of children with spina bifida.     

Neural tubal defects in an East Delhi hospital

A high incidence of congenital neural tube defects was suspected among the babies born in East Delhi. The hospital data of 30 months was reviewed to find out the incidence and to evaluate the prenatal diagnosis in these disorders. An incidence of 7/1000 births was found to be correct in all cases of anencephaly and hydrocephalus. However, spina bifida and encephalocele were missed in 25% of cases. All patients were diagnosed late during pregnancy mainly because of late booking. Early booking and a high index of suspicion are desirable for early prenatal diagnosis.     

Successful screening for neonatal hip instability in Australia

OBJECTIVE: Australian screening programmes for congenital dislocation of the hip (CDH) are characterized by lower neonatal hip instability (NHI) detection rates than more successful international programmes. Through creating a quality, accountable clinical screening programme for NHI detection, the present study aimed to establish the true incidence of NHI in Australian babies and to eliminate 'late diagnosed' CDH. METHODS: Doctors responsible for routine neonatal care were made accountable for NHI detection and examined 5166 consecutive live births in the first days of life between 1989 and 2000. Techniques for clinical NHI detection were taught, and doctors practised with teaching-mannequins. Paediatricians clinically determined true positive NHI cases and managed them for a 12-month period. Peer review of NHI detection rates was introduced to encourage accountability. Surveillance for 'late diagnosed' CDH occurred regularly through a variety of methods. RESULTS: One hundred babies with NHI were detected (19.4 per 1000): 77% were female; 26% were breech presentation, 25% had a family history of hip instability; and all received some form of splinting. Follow up for 85% of these babies at 12 months revealed no significant complications. Extensive searching has revealed no baby with 'late diagnosed' CDH from the study population in 12 years. One baby commenced treatment late (at 4 months) because of a failure of process following early NHI detection. CONCLUSIONS: The true incidence of NHI in Australia is > or =19 per 1000 births. Successful clinical CDH screening programmes using primary care doctors can be created and might eliminate 'late diagnosed' CDH.     

Congenital dislocation of the hip: early and late diagnosis and management compared.

During the decade 1970-9, 23 002 infants born in the University of Bristol Department of Obstetrics were examined for congenital dislocation of the hip by junior members of the paediatric staff on the first day of life and again on discharge from hospital. Suspected hip abnormality was checked by a senior member of the staff on the same day. A total of 445 (1.9%) infants were found to have a hip abnormality in the neonatal period. Immediate treatment in an abduction splint was undertaken, usually six weeks for dislocatable hips and 12 weeks for dislocated hips. Routine follow up included clinical and radiological examination at six, 12, 24, and 60 months. Altogether 90% completed the 12 month, 85% the 24 month, and 76% the 60 month checks. Five infants (1.1%) required further orthopaedic treatment (adductor tenotomy and abduction splinting) but no major surgery was necessary, nor was avascular necrosis encountered. The radiological results were excellent. Every effort (1970-84) was also made to identify all cases of late congenital dislocation of the hip diagnosed after the neonatal period in infants born to women in Avon during the same decade (n = 103 431). Ninety one cases were detected (0.88 per 1000 births), 10 in the university cohort (0.44 per 1000) and 81 in the non-university group (1.00 per 1000) (P less than 0.01). Seven of 10 in the former group required open surgery and in seven the radiological outcome at follow up was moderate or poor. The early and late diagnosed groups are compared in respect of perinatal factors and management. It is possible to detect most cases of congenital dislocation of the hip at birth and treat them safely and successfully.     

Trends in clinical characteristics of infants with spina bifida--Atlanta, 1972-1979

In Atlanta, the birth prevalence of spina bifida declined from 10.1 per 10,000 live births in 1972-1973 to 5.8 per 10,000 live births in 1978-1979. This trend cannot be explained by use of prenatal diagnosis, because it was unavailable in Atlanta until 1976, and even in the late 1970s was not used widely. To determine if this decrease was associated with changes in the distribution of clinical characteristics among infants with spina bifida, we reviewed the medical records of a population-based group of 154 infants with spina bifida, born in Atlanta during the eight-year period from 1972 through 1979. Distribution by the highest level of the defect on the spine did not change during these years. The proportions of infants with isolated spina bifida (ie, no other major malformations) and with open spina bifida (ie, not covered by skin) did, however, decrease. When we examined these two characteristics simultaneously, we found declines in both the proportion of infants with open-isolated spina bifida and the birth prevalence of infants with open-isolated spina bifida. If this trend persists, it will have important implications for workers involved with prenatal alpha-fetoprotein screening and researchers investigating the etiology of spina bifida.     

Ultrasonographic evaluation of breech presentation as a risk factor for hip dysplasia

In order to gain more information of breech position as a risk factor for congenital hip dysplasia or dislocation, the hips of 408 newborns delivered in the breech position were examined by ultrasound. Clinical examination was performed by both experienced paediatricians and orthopaedic surgeons. The infants were re-examined by ultrasound at 2–3 months of age. Twenty-five newborns (6.1%) had neonatal hip instability. Breech presentation as a risk factor was confirmed, with first borns, breech position with extended knees, and high birthweight as special high-risk groups. Ultrasound showed subluxation in most of the unstable hips. The main benefit of using ultrasound was that direct visualization permitted more reliable evaluation, especially when the clinical findings were uncertain. Normal ultrasound findings in false positive and uncertain Ortolani tests reduced the frequency of unnecessary treatment. Because ultrasound was used in follow-up, the need of radiography was reduced. There were no late-detected cases of hip dysplasia or dislocation, indicating that routine follow-up is not necessary in breech infants with normal hips at birth, provided that the neonatal screening is optimal.     

Studies on Birth Defects and Twins in Japan*

Abstract: In Japan, the overall incidence rates of birth defects among fetal deaths were 2.5% for singletons and 3.2% for twins during 1979–1985. The difference is significant at the 5% level. The incidence rate of anencephalus among fetal deaths during the period was higher in singletons than twins in each year, whereas the incidence rate of congenital hydrocephalus among twins was similar to that among singletons except in 1985. The concordance rates were 5.7% for anencephalus, 9% for spina bifida, and 15% for congenital hydrocephalus during the period. In two cases one twin had anencephalus and the other congenital hydrocephalus, and in one case one twin had anencephalus and the other spina bifida. Nationwide data on 112 sets of conjoined twins who died as fetuses or in the postnatal period during 1979–1985 were analysed. Female conjoined twins accounted for 60% of cases. The incidence rate of conjoined twins remained constant throughout the period except in 1985. The overall incidence rate was 10 per million births. A maternal age effect was found in mothers over the age of 40, where the highest incidence rate occurred. The incidence rate increased with birth order.