Arthrogryposis multiplex congenita mit Klinefelter-Syndrom

Zusammenfassung Bei dem Patienten L. M. wurde neben einer Arthrogryposis multiplex congenita ein Kryptorchismus bei geistiger Retardierung festgestellt. Die Chromosomenalyse ergab die für das Klinefelter-Syndrom charakteristische Chromosomenstörung (2n=47/XXY). Beim Barr-Test enthielten bei 248 analysierten Zellen der Mundschleimhaut 48 chromatinpositive Zellkerne. Die Untersuchung des Hautleistensystems zeigte im Bereich der Handflächen den für die A. m. c. typischen longitudinalen Leistenverlauf. Auf allen Fingerbeeren sowie auf den Zehenbeeren 2–5 war eine volständige Leistendysplasie vorhanden.

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Arthrogryposis multiplex congenita combined with klinefelter syndrome

Summary Arthrogryposis multiplex congenita, cryptorchism and mental retardation were diagnosed in one of our patients (L. M.). A chromosome analysis showed the abnormal karyotype which is typical for the Klinefelter syndrome (2 n=47/XXY). The examination of the sex chromatin showed that 48 out of 248 cells from the oral mucosa contained Barr-bodies in their nuclei.The dermatoglyphics of the patient disclosed the longitudinal course of ridges on the palms which is characteristic for A. m. c.On all fingertips as well as on toes 2–5 a complete dysplasia of the ridges was observed.

     

Scrotal emergencies

This review describes the clinical, grey-scale and colour Doppler US findings of different conditions that may be the cause of an acute scrotum. The US appearances of testicular torsion, torsion of the appendix testis, epididymoorchitis, incarcerated hernia and idiopathic scrotal oedema are described. Some of the major studies regarding the sensitivity and specificity of US in the diagnosis of these diseases are reviewed. Grey-scale and colour Doppler US demonstrate high accuracy in the aetiological diagnosis of an acute scrotum and can differentiate between diseases that require immediate surgical intervention and those that can be treated conservatively.     

Acute scrotal pain in children: results of 543 surgical explorations

A total of 543 boys suffering from acute scrotal pain underwent emergency surgery between 1986 and 1996. Of these, 91 had a testicular torsion (TT) (16.8%) and 250 had an appendage torsion (AT) (46%). The cause varied with patient age, with most TTs in newborns and boys of 15 years and most ATs in 10–11-year-olds; 21.5% were operated upon within 6 h of the onset of pain and 69.2% within 24 h. Most stayed in hospital for less than 24 h. Pre-surgical examination identified no criterion for excluding TT. We therefore believe that all children complaining of acute scrotal pain should undergo surgery. As release of an inflamed AT reduces pain, three-fourths of the children benefited directly from surgery. Accepted: 9 October 1998     

Arthrogryposis multiplex congenita and bilateral mid-brain infarction following maternal overdose of co-proxamol

We report a case of arthrogryposis multiplex congenita secondary to fetal hypokinesia in a 41-week gestation infant following antenatal central nervous system injury. The mother's pregnancy was complicated by an episode of attempted self harm, with an overdose of co-proxamol at 22 weeks of gestational age, and by the use of cocaine in combination with excess alcohol intake. Magnetic resonance imaging showed bilateral mid-brain cysts and marked atrophy of the basal ganglia and thalami.     

High-resolution sonography of a scrotal abscess in a 2-week-old infant

Scrotal abscess in infancy is rare and, in an otherwise healthy infant, an unexpected pathology. We present a 2-week-old boy with a unilateral scrotal swelling, imaged by high-resolution sonography. Sonography with colour Doppler demonstrated an encapsulated heterogeneous mass in the left scrotum with surrounding hyperaemia and a hypervascular spermatic cord. The testis was not demonstrable with full certainty and surgical exploration was undertaken. A scrotal abscess, indistinguishable from the testis and epididymis, had to be resected and on histology was found to have originated from the tunica vaginalis. Urogenital investigations did not reveal any associated abnormality and the final diagnosis was idiopathic scrotal abscess. High-resolution sonographic features with colour Doppler of a scrotal swelling can suggest an abscess and help determine appropriate therapy.     

Arc syndrome without arthrogryposis,with hip dislocation and renal glomerulocystic appearance: a case report

Introduction  Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B whose product acts in intracellular trafficking. It exhibits wide clinical variability. Arthrogryposis, spillage of various substances in the urine, and conjugated hyperbilirubinemia define an ARC core phenotype, in some patients associated with ichthyosis, central nervous system malformation, deafness, and platelet abnormalities. Many patients with different associations of cholestasis, renal tubular acidosis, and dysmorphic morphology may be underdiagnosed. Case report  We report the third patient of ARC syndrome from Turkey with an incomplete form with renal tubular dysfunction and cholestasis in the absence of arthrogryposis but exhibiting other rare features. Conclusion  Our case highlights that the variability of involvement of different systems in ARC syndrome is well described; however, the renal glomerulocystic appearance has not been reported previously. Knowledge of this rare condition can benefit the practitioner as well as the patient.     

A boy with Leydig cell tumour and precocious puberty: Ultrasonography as a diagnostic aid

A 7 5/12 year-old boy developed pseudoprecocious puberty. The diagnosis of Leydig cell tumour was suggested by clinical and hormonal findings and greatly facilitated by ultrasonographic investigation of the testes. Surgical exploration was in keeping with the diagnosis and the tumour was removed. Orchidectomy was not necessary. It appears that ultrasonography may be very useful in diagnosing a testicular tumour. It facilitates surgical intervention since it permits localization of the lesion which is usually very small and limited to a small part of the testis, as in this case.     

Cerebral lesions observed in a twin after the in utero death of the other twin. Fetal anoxia-ischemia can be the possible mechanism (3 cases)]

BACKGROUND: The death of one twin in utero may result in visceral lesions, of possible vascular origin, in the surviving twin when the pregnancy is monochorionic and diamniotic. CASES REPORT: Case n. 1: The death of one twin and enlargement of the ventricular system in the other were seen by ultrasonography at 24 weeks of pregnancy, 8 weeks after the mother had a fall on the stairs. The heterogeneous imaging in the inferior part of placenta suggested a clot in this area. The pregnancy was terminated at 28 weeks because the ventricular dilatation continued to increase. The newborn died a few minutes later and examination of the placenta showed that the pregnancy was monochorionic and monoamniotic. Case n. 2: The death of one twin with macerating features was seen by ultrasonography at 31 weeks. The other twin was born at 32 weeks of a dichorionic, diamniotic pregnancy. Injection of milk into the placental vasculature failed to visualize any vascular anastomoses between the two placentas, but ultrasonography showed bilateral cystic lesions in the frontal lobes of the brain. Case n. 3: Acute polyhydramnios developed at 21 weeks of pregnancy; it was treated by 3 amniocenteses, while ultrasonography of the twins was normal. A fetal transfusion syndrome was observed at birth, the pregnancy being monochorionic and diamniotic. Cranial ultrasound on day 6 was normal in the recipient twin, but showed numerous cerebral cavities in the donor, which was confirmed at autopsy after that this twin suddenly died at 2 months of age. CONCLUSIONS: Brain lesions of vascular origin, can be observed in any type of twin pregnancies. They may be the result of transfusion of clot or thromboplastin-rich blood from the donor fetus through vascular anastomoses in a monochorionic placenta. They also may be due to anoxo-ischemic lesions in the absence of such anastomoses, or, in the fetal transfusion syndrome, to circulatory difficulties in one of the twins, as observed in premature singletons. In the cas of anoxo-ischemic lesions, anticipating the birth of the surviving twin is not justified.     

Fibrous hamartoma of infancy in the scrotum

Fibrous hamartomas of infancy and childhood are rare benign tumors. The clinical and morphological features of these lesions can be different according to the age at onset. Although the most common localizations are the shoulders, axillas, and upper arms, these lesions may develop in unusual sites such as the scrotum. The authors report a 13-month-old child with a fibrous hamartoma in the scrotum, which was excised. At 1-year follow-up there was no sign of local recurrence or distant disease. The clinical and histological features of the disease are described in order to facilitate correct diagnosis and avoid inadequate therapy. Offprint requests to: F. Ferro     

Acute scrotum as the first symptom of Henoch-Schonlein purpura: report of 14 cases

目的 总结14例以阴囊急症为首发症状的过敏性紫癜的发病及转归特点,以期提高对该类疾病的综合认识.方法 回顾2001年7月至2010年3月本科收治的14例以阴囊急症为首发症状的过敏性紫癜的临床资料.14例入院时均没有皮疹,其中8例诊断为睾丸附睾感染;3例诊断为睾丸附件扭转;2例诊断为睾丸扭转;1例诊断为双侧睾丸挫伤、会阴腹股沟软组织挫伤.1例合并腹痛,1例合并左膝关节肿痛.结果 5例患儿在入院后2～8 h出现皮肤紫癜,8例在入院后12～36 h出现皮肤紫癜,外伤的1例患儿入院后逐渐出现右膝关节肿痛转内科治疗,转科后2d出现皮疹.内科综合治疗后阴囊症状逐渐消失.所有患儿出院后均在血液科门诊随访3个月至5年,所受累阴囊睾丸未见异常.结论 以阴囊急症为首发症状的过敏性紫癜临床上不多见,超声在小儿阴囊急症的诊断中具有较高的准确性.对临床表现为阴囊急症尤其合并腹痛、关节肿痛的儿童需考虑到存在过敏性紫癜的可能性,综合的判断分析能够尽可能减少不必要的探查手术.     

Hyperthermia as a possible teratogenic agent

Hyperthermia has been shown to be a teratogenic agent in a number of animal species. We have attempted to determine if maternal hyperthermia during early gestation might also be responsible for problems in human development. Eight retrospectively ascertained cases, in which high fever had occurred at four to six weeks' gestation, revealed a similar clinical phenotype in the infants despite the fact that the maternal fever was caused by different infections. The most consistent manifestations were severe mental deficiency, seizures, hypotonia, microphthalmia, midface hypoplasia, and mild impairment of distal limb development. In five patients exposed to hyperthermia at seven to 16 weeks' gestation, predominant features were hypotonia, neurogenic arthrogryposis, and central nervous system dysgenesis. The cause of fever differed in each of these cases; in one, a patient with neurogenic arthrogryposis, the hyperthermia had been induced in a sauna bath. No apparent serious problem in morphogenesis was found following hyperthermia during the latter half of gestation. These findings are similar to those resulting from induced hyperthermia in animals. Further research on the effects of hyperthermia in the developing human being seems warranted.     

小儿阴囊急症的鉴别诊断和手术治疗

目的探讨小儿阴囊急症的鉴别诊断及治疗方法。方法总结分析我院近7年收治的小儿阴囊急症病例资料。结果133例阴囊急症中睾丸附件扭转105例(79.0%),睾丸附睾炎16例(12.0%),睾丸扭转4例(3.0%),其他8例(6.0%)。附件扭转以6～12岁居多,其阴囊肿痛程度较睾丸附睾炎为轻(P<0.005)。在睾丸附件扭转中蓝斑征9例(8.6%),痛性结节23例(21.9%),超声附件检出率为90.5%。手术中发现不完全性坏死附件、哑铃状附件节间扭转、慢性附件扭转等特殊病例。睾丸附睾炎好发于6岁内,可双侧发病或反复发作。睾丸扭转其提睾反射均消失,超声显示睾丸无血流。结论小儿阴囊急症以睾丸附件扭转最常见,睾丸扭转发病最急。病史、体征及超声检查有助于鉴别诊断,主张积极探查手术。