Schwere Degloving-Verletzung der Füße bei einem Kind

Although rarely described, it is generally accepted that degloving injuries can successfully be treated by defatting the degloved skin and replacing it with a full-thickness graft. There have been few reports on the outcome of this reconstructive procedure in children. In this report, we describe the use of the VAC system to treat a case of degloving injury to both feet of a 4-year-old boy who was pulled into a luggage belt while standing on it.     

Spine evaluation in children with anorectal malformations

The value of radiography, ultrasound and magnetic resonance imaging (MRI) in detecting skeletal and intraspinal pathology was assessed in infants with anorectal malformations, and the need for spinal MRI examination in this group of patients was evaluated. Twenty-one infants were examined with radiography, ultrasound and MRI of the lower spine. The detection of skeletal and intraspinal abnormalities was compared for the three imaging modalities. Fifteen patients were normal in all three examinations. Radiography showed bony skeletal abnormalities in six children, although sometimes very subtle. By ultrasound both bony and cartilaginous malformations were detected in all six patients and by MRI in five patients. Five of the six children with skeletal abnormalities had intraspinal pathology, detected in all cases by ultrasound and MRI. However, the abnormalities were more clearly demonstrated by MRI than by ultrasound. Spinal radiographs must be examined carefully for abnormalities, because they can indicate the presence or absence of intraspinal pathology. Normal radiographic and sonographic appearance of spinal anatomy in children with anorectal malformation makes MRI superfluous, but if radiographs or ultrasound are abnormal, MRI should be used to accurately depict possible intraspinal pathology.

     

Rotundum psoas hitch: a new method for colpohysteropexy in girls with bladder exstrophy

Female patients with bladder exstrophy frequently suffer from uterine prolapse, which is due to a defective pelvic floor anatomy. Different techniques for the correction of procidentia in this patient population have been described; however, since the numbers of patients are very small and no series with long-term follow-up exists, it is unclear which technique yields superior results. We describe here a new technique for uteropexy in girls and women with bladder exstrophy. In the rotundum psoas hitch procedure (RPH), the round ligaments are detached from the inner inguinal ring and fixed to the psoas muscle on both sides, thereby fixing the uterus in a more cranial and dorsal position. This procedure has been applied successfully in nine patients with a mean follow-up of 23.8 months. In six cases RPH was done prophylactically and in three cases therapeutically to correct an existing uterine prolapse. The mean age at operation was 9.6 years. In all but one case, RPH was combined with continent urinary reconstruction. No postoperative morbidity due to this technique has been described. RPH is an effective means of preventing or correcting procidentia in patients with bladder exstrophy; we emphasize that it should be combined with other abdominal operations, such as continent reconstruction, in girls or women with this condition.     

Covered exstrophy associated with an anorectal malformation: A rare variant of classical bladder exstrophy

We report the case of a male newborn with covered bladder exstrophy, high anorectal malformation, and rectourethral fistula. The child had a split symphysis and diverging rectus muscles in the infraumbilical region. The ventral part of the bladder was covered with thin, fragile skin and some portions of the bladder bulged out as abdominal-wall hernias. Two of these hernias were located just above the penis, and the overlying skin showed a resemblance to scrotal skin. The penis was small and slightly laterally displaced, but otherwise normal; the child also had unilateral reflux into a dysplastic left kidney. The bladder neck and posterior urethra were patulous, but there was no urinary incontinence. The child underwent a singlestage reconstruction of the exstrophic lesion and a staged repair of the anorectal malformation. The clinical significance of this entity is discussed and the literature reviewed.     

Dynamic magnetic resonance imaging of the pelvic floor in children and adolescents with vesical and anorectal malformations

Background

Magnetic resonance imaging (MRI) of the pelvic floor allows better assessment of pelvic pathology and has a potential as an adjunct for therapy planning. In complex congenital malformations of the pelvic floor and continence organs, it plays a major role in assessing urinary and fecal incontinence or constipation, especially when performed as a dynamic investigation such as MRI defecography.

Patients and Methods

Twenty-three patients (3-21 years old) with urinary and/or fecal incontinence or constipation attributable to congenital malformations of the pelvic region presented at our institution. The diagnoses were anorectal malformations (18), bladder exstrophy (2), and cloacal exstrophy (3). All patients underwent static and dynamic MRI of the pelvic floor with rest, squeeze, and evacuation in supine position.

Results

Morphology and function of the pelvic floor and pelvic organs could be demonstrated in each case. The reason for urinary incontinence, fecal incontinence, or constipation could be defined, and an individual therapeutic management concept was made based upon the data obtained by the investigation.

Conclusions

The advantages of this method, in comparison to others, are direct visualization of the pelvic floor muscles and continence organs and their anatomical relationship during different functional actions. Pelvic floor dysfunction is often the reason for fecal and urinary incontinence and can be detected by MRI. Especially in children, minimizing radiation exposure is of major concern. Disadvantages are the costs and long investigation time.     

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

The exstrophy-epispadias complex (EEC) comprises a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide level. Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing of 5.7 kilobases, was performed to screen an initial cohort of 16 patients with non-syndromic EEC. A de novo microduplication involving chromosomal region 22q11.21 was identified in one patient with classic exstrophy of the bladder (CBE). Subsequent multiplex ligation-dependent probe amplification (MLPA) analysis was performed with an MLPA 22q11 kit in a further 50 non-syndromic EEC cases. We identified one CBE patient with an overlapping 22q11.21 duplication in whom the duplication had been transmitted from the unaffected mother.Chromosomal region 22q11 is well known for its susceptibility to genomic rearrangements, and these are associated with various syndromes including the velo-cardio-facial/DiGeorge syndrome (VCFS/DGS), the der(22) syndrome, and the cat-eye syndrome. Duplications in this region result in a wide and variable spectrum of clinical presentations that include features of the VCFS/DGS, while some carriers present with a completely normal phenotype.Our findings extend the phenotypic spectrum of the 22q11.2 duplication syndrome, and indicate that this aberration predisposes to CBE with incomplete penetrance.