A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.

Juvenile nephronophthisis (NPH), an autosomal recessive cystic kidney disease, is the primary genetic cause of chronic renal failure in children. About two thirds of patients with NPH carry a large homozygous deletion at the gene locus NPH1 on 2q13. We here identify a novel gene. NPHP1, which extends over most of this common deletion. The 4.5-kb transcript encodes a protein with an SH3 domain, which is highly conserved throughout evolution. The 11-kb interval between the 3' end of NPHP1 and an inverted repeat containing the distal deletion breakpoint was found to contain the first exon of a second gene, MALL. In patients with a hemizygous deletion of the NPH1 region, additional point mutations were found in NPHP1 but not in MALL.

Characterization of a 4παß(LS)-γ(HPGe) prototype system for low-background measurements.

A ground-level prototype system for low-background measurements was developed and tested. The system consists of a high-purity germanium (HPGe) detector used for detecting γ rays and coupled to a liquid scintillator (LS) used for detecting α and ß particles. Both detectors are surrounded by shielding materials and anti-cosmic detectors ("veto") used to suppress background events. The energy and timestamp of detected α, ß and γ emissions are recorded event-by-event and analyzed offline. By requiring timing coincidence between the HPGe and LS detectors, background events originating from outside the volume of the measured sample can be effectively rejected. The system performance was evaluated using liquid samples containing known activities of an α emitter (241Am) or a ß emitter (60Co) whose decays are accompanied by γ rays. The LS detector was found to provide a solid angle of almost 4π for α and ß particles. Compared to the traditional γ-singles mode, operating the system in coincidence mode (i.e., α-γ or ß-γ) reduced the background counts by a factor of ∼100. Consequently, the minimal detectable activity for 241Am and 60Co was improved by a factor of 9, being 4 mBq and 1 mBq for an 11-d measurement, respectively. Furthermore, by applying a spectrometric cut in the LS spectrum that corresponds to α emission from 241Am, a background reduction factor of ∼2400 (compared to γ-singles mode) was achieved. Beyond low-background measurements, this prototype exhibits additional compelling features, such as the ability to focus on certain decay channels and study their properties. This concept for a measurement system may be of interest to laboratories that monitor environmental radioactivity, studies involving environmental measurements and/or trace-level radioactivity.

Evaluating the intensity of the 803-keV γ ray of 210Po using a 4παß(LS)-γ(HPGe) measurement system.

The absolute intensity for the 803-keV γ ray of 210Po was evaluated by α-γ coincidence technique. A liquid sample with a known amount of 210Po embedded in scintillation fluid was measured in a coincidence-based system that comprises a Liquid Scintillator (LS) detector and a High-Purity Germanium (HPGe) detector. A photo-reflector assembly that contains the 210Po sample provides 100% efficiency for detecting the α particles. The combination between the HPGe and the LS detectors allows to reject non-coincident α-γ events while maintaining high resolution γ spectroscopy. Consequently, the faint 803-keV photopeak from 210Po could be observed in a background-free environment, and its intensity could be evaluated with good accuracy. Sample measurements were carried out over nine months to gather statistics and verify the reliability of the experimental procedure. The absolute intensity of the 803-keV line was found to be (1.22 ± 0.03) × 10-5, in excellent agreement with the adopted value in a recent data compilation and consistent with previous experimental works.

Evaluating the intensity of the 'prompt' 140.5 keV γ-ray of 99Mo using a 4παß(LS)-γ(HPGe) measurement system.

The absolute intensity for the 'prompt' 140.5 keV gamma-ray of 99Mo was evaluated using the ß-γ coincidence technique. A liquid sample of 99Mo was prepared from a99Mo/99mTc generator and measured in a 4παß(LS)-γ(HPGe) system that comprises a Liquid Scintillator (LS) detector and a High-Purity Germanium (HPGe) detector. The sample was introduced into scintillation fluid embedded in a photo-reflector assembly that provides almost 100% efficiency for detecting ß particles (in the energy range of intreset). The combination of the HPGe and the LS detectors provided a highly effective rejection mechanism for non-coincident events. Thereby, the distinction between the detected 140.5 keV events originating from decays of 99mTc (IT) and those from transitions bypassing the metastable state could be obtained and the 'prompt' intensity was evaluated directly. The system was calibrated for detecting ß particles and γ-rays using radioactive sources of known activities and having identical geometry as the sample containing 99Mo. The absolute intensity of the 'prompt' 140.5 keV was found to be (5.21 ± 0.02stat±0.16sys)%, in good agreement with results from more recently reported works.

Functional and morphologic maturation of the superficial nephrons. Relationship to total kidney function.

The functional and morphologic pattern of superficial nephron development was studied in guinea pigs ranging in age between 2 h and 38 days. Concomitent measurements of total kidney function and glomerular counts were also performed. Superficial nephron glomerular filtration rate was found to increase from 0.92 to 19.32 nl/min. The filtration rate of the entire kidney rose from 0.19 to 1.31 ml/min. During the first 15 days of life the average rate of increase in glomerular filtration rate per nephron (0.48 nl/min.day), obtained by dividing the increase in total kidney glomerular filtration rate by glomerular number, was more than twice the observed rate of increase in the superficial nephrons (0.21 nl/min.day). During the remainder of the first month, the increase in superficial nephron glomerular filtration rate (0.97 nl/min.day) was greater than the average increase for all nephrons (0.71 nl/min.day). Thus, the initial increase in total kidney glomerular filtration rate was primarily a consequence of the activity of the deep nephrons, whereas during the ensuing period the superficial nephrons appeared to be the sole contributors to the change in total kidney glomerular filtration rate.The increase in superficial nephron glomerular filtration rate was found to correlate closely with the increase in proximal tubular length. Functional glomerulotubular balance was maintained throughout the entire period of renal maturation.

A case of Munchausen syndrome by proxy with subsequent suicide of the mother.

Munchausen syndrome by proxy is a subtle and difficult to diagnose form of child abuse in which the carer (usually the mother) simulates, manipulates or produces symptoms of illness in the victim. In most cases the detrimental effect is caused by applying foreign substances or by airway obstruction. In the presented case a 20-month-old girl developed a spreading soft-tissue infection resistant to treatment on the left upper arm after vaccination, which required a number of surgical interventions. Repeatedly, microorganisms from the intestinal flora were isolated from the wound secretion. After the girl suffered respiratory and circulatory arrest, which required resuscitation measures, chemical toxicological tests revealed not medically prescribed benzodiazepines in serum and urine. When the mother, a trained nurse, was confronted with the allegation to have manipulated the symptoms of the illness she committed suicide. The forensic autopsy of the suicide produced numerous hints suggesting chronic self-damaging behaviour described as Munchausen syndrome. This case shows a number of manipulation forms with the maintenance of a chronic skin and soft tissue infection belonging to the rarer forms of inflicting damage to the child. It also illustrates that confrontation with the allegation of Munchausen syndrome by proxy creates a very stressful emotional situation that may lead to a suicidal act.

Intraoperative radiotherapy given as a boost after breast-conserving surgery in breast cancer patients.

Conventional radiotherapy after breast-conserving therapy is confined to 50-55 Gy external beam radiation therapy (EBRT) to the whole breast and 10-16 Gy external boost radiation to the tumour bed or brachytherapy to the tumour bed. Local recurrence rate after breast-conserving surgery varies between 5 and 18%. External boost radiation can partially miss the tumour bed and therefore can result in local failure. Intra-operative radiotherapy (IORT) as a high precision boost can prevent a 'geographical miss'. From October 1998 to December 2000, 156 patients with stage I and stage II breast cancer were operated upon in a dedicated IORT facility. After local excision of the tumour, the tumour bed was temporarily approximated by sutures to bring the tissue in the radiation planning target volume. A single dose of 9 Gy was applied to the 90% reference isodose with energies ranging from 4 to 15 MeV, using round applicator tubes 4-8 cm in diameter. After wound healing, the patients received additional 51-56 Gy EBRT to the whole breast. No acute complications associated with IORT were observed. In 5 patients, a secondary mastectomy had to be performed because of tumour multicentricity in the final pathological report or excessive intraductal component. 2 patients developed rib necroses. In 7 patients, wound healing problems occurred. After a mean follow-up of 18 months, no local recurrences were observed. Cosmesis of the breast was very good and comparable to patients without IORT. Preliminary data suggest that IORT given as a boost after breast-conserving surgery could be a reliable alternative to conventional postoperative fractionated boost radiation by accurate dose delivery and avoiding geographical misses, by enabling smaller treatment volumes and complete skin-sparing and by reducing postoperative radiation time by 7-14 days.

Inadequacy of conventional computerized tomography scans for treatment planning of tangential breast (chest wall) fields.

The use of transverse tomography treatment-planning scans, which have to be taken in the exact treatment position of the patients, is essential for precision radiotherapy of breast cancer. Transverse tomography scans give all necessary informations for an optimal isodose distribution within the target volume for the individual patient, and maximal sparing of normal tissues (e.g. lung) is achieved. The exact topography of internal mammary nodes may also be incorporated in the planning scan with the help of lymphoscintigraphy. Conventional computerized tomography (CT) scanners have too small gantry openings (50-70 cm) to allow for proper positioning of the patients under treatment conditions. Using such treatment-planning scans for patients in the actual treatment position would cause an underdosage in excess of 5% within the target volume, when 60Co fields are used. Also, a much larger volume of normal tissues (mainly lung) would unnecessarily be irradiated. Treatment-planning scans obtained by TAT (transverse analog tomography) do not have the crucial positioning problems of conventional CT scanners and enable the precise transformation of a valid isodose distribution to each patient. In addition, positioning wedges (with adjustable wedge angles) may be placed under the patient to achieve the optimal treatment position. A useful alternative of TAT scanning for precise treatment planning of patients with breast cancer would be a CT scanner with a wide enough gantry opening to allow for any patient positioning under actual treatment conditions.

Mycophenolate mofetil in pediatric renal transplantation without induction therapy: results after 12 months of treatment. German Pediatric Renal Transplantation Study Group.

BACKGROUND: Acute rejection episodes (ARE) of kidney transplants are considered as risk factor in the development of chronic rejection. In adult renal transplantation (RTx), ARE have been significantly reduced by mycophenolate mofetil (MMF) in combination with cyclosporin (CyA) and steroids (Pred). Reports of pediatric RTx on a maintenance immunosuppression with MMF are restricted to patients (P) after antibody induction therapy. METHODS: The efficacy and safety of MMF combined with CyA and Pred in pediatric RTx without induction therapy were evaluated in an open-labeled multicenter study. RESULTS: From 10/1996 to 6/1999, 65 pediatric P (MMF group) were followed for at least 6 months, 58 of 65 for 12 months. These P were compared with 54 retrospectively analyzed pediatric P who were transplanted between 1990 and 1996 and had received CyA, Pred, and azathioprine for immunosuppression (historic AZA group). Within the first 6 months after RTx, 18 of 65 (MMF group) and 32 of 54 (historic AZA group) P showed clinical signs of acute rejection (P<0.01). Thereafter only one further P in the MMF group developed a first ARE. Graft loss due to rejection occurred in one MMF- and seven AZA-treated P (P<0.05). The creatinine-clearance 3 and 6 months after RTx was higher in the MMF group. Major adverse events (MMF group) included infections of the urinary and the upper respiratory tract, diarrhea, and leukopenia. Cytomegalovirus-infection occurred in 13 P and 2 P developed cytomegalovirus disease. One P developed PTLD 10 months after RTx and recovered after the reduction of immunosuppression. CONCLUSIONS: The combination of MMF, CyA, and Pred reduced ARE in pediatric RTx without incurring major side effects.

Effect of genistein on native epithelial tissue from normal individuals and CF patients and on ion channels expressed in Xenopus oocytes.

The flavonoid genistein has been shown to activate a Cl(-) conductance in various cell types expressing CFTR. We examined if similar effects can be observed when genistein is applied to native ex vivo tissues from human respiratory tract and rectum. We further compared the effects when genistein was applied to oocytes of Xenopus laevis expressing CFTR. In oocytes, both wtCFTR and DeltaF508-CFTR were activated by genistein while both cyclic AMP (K(v)LQT1) and Ca(2+) (SK4) activated K(+) channels were inhibited at high concentrations of genistein. Biopsies from nasal polyps and rectal mucosa were obtained from normal individuals (non-CF) and CF patients and in the presence of amiloride (10 micromol l(-1); mucosal side) the effects of genistein were assessed using a perfused Ussing chamber. In non-CF airway epithelia, genistein (50 micromol l(-1); mucosal side) increased lumen negative I(sc) but had no additional effects on tissues pre-stimulated with IBMX and forskolin (100 micromol l(-1) and 1 micromol l(-1); both sides). In non-CF rectal biopsies, in the presence of amiloride (10 micromol l(-1); mucosal side) and indomethacin (10 micromol l(-1); basolateral side), genistein increased lumen negative I(sc) and enabled cholinergic (carbachol; CCH, 100 micromol l(-1); basolateral side) stimulation of Cl(-) secretion indicating activation of luminal CFTR Cl(-) channels. However, after stimulation with IBMX/forskolin, genistein induced opposite effects and significantly inhibited CCH activated I(sc). In CF airway and intestinal tissues genistein failed to induce Cl(-) secretion. Thus, genistein is able to activate luminal CFTR Cl(-) conductance in non-CF tissues and mutant CFTR in oocytes. However, additional inhibitory effects on basolateral K(+) conductance and missing effects in native CF tissues do not support the use for pharmacological intervention in CF.

Probable Opitz trigonocephaly C syndrome with medulloblastoma.

We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal helices, deeply furrowed palate, postaxial polysyndactyly of the feet, ankle flexion deformities, cryptorchidism, loose skin, and severe mental retardation, findings compatible with a diagnosis of the Opitz trigonocephaly C syndrome (OTS). At the age of 12 years this patient presented with symptoms of raised intracranial pressure. A biopsy showed findings diagnostic of a medulloblastoma WHO Grade IV, an unprecedented finding in OTS. The possibility of coincidence should not prevent continued surveillance of OTS patients in the future for the occurrence of malignancy.

Glomerulopathy associated with predominant fibronectin deposits: exclusion of the genes for fibronectin, villin and desmin as causative genes.

Glomerulopathy with predominant fibronectin deposits (GFD) is a newly recognized autosomal dominant renal disease that leads to albuminuria, microscopic hematuria, hypertension, renal tubular acidosis type IV, and end-stage renal disease in the second to fourth decade of life. Light microscopy documents extensive deposits in the subendothelial space, which on electron microscopy consist of non-oriented 12 x 125 nm fibers. Deposits are strongly immunoreactive for antibodies to fibronectin. We examined the hypothesis that a genetic defect in the gene for fibronectin is responsible for the disease. In a 197 member pedigree, 13 relatives developed end-stage renal failure from the disease. In 99 individuals haplotype analysis was performed using 6 microsatellite markers spanning a > 56 cM interval in chromosome region 2q34, where fibronectin, villin, and desmin map in close proximity. Haplotype analysis resulted in exclusion of the whole range of 78 cM covered by the markers examined. This result excludes fibronectin, villin, and desmin from being the causative genes for GFD in this large kindred.

Renal function in long-term survivors of stem cell transplantation in childhood. A prospective trial.

The aim of this prospective study was to assess glomerular and tubular renal function before, and 1 and 2 years after hematological stem cell therapy (HSCT) in children and adolescents. 137 consecutive patients undergoing HSCT, for malignant diseases, were included in a prospective trial. Forty-four patients were followed for up to 1 year after HSCT and 36 for up to 2 years, without relapse. Ninety healthy school children were used as a control group. The following parameters were investigated: inulin clearance (GFR), urinary excretion of albumin, alpha1-microglobulin (alpha1-MG), calcium, beta-N-acetylglucosaminidase (beta-NAG) and Tamm-Horsfall protein (THP), tubular phosphate reabsorption (TP/Cl(cr)) and percent reabsorption of amino acids (TAA). Significantly lower GFR was found 1 and 2 years after HSCT but within the normal range in the period before HSCT. There was no correlation between GFR within the first month after HSCT and long-term outcome of GFR. Tubular dysfunction was found in 14-45% of patients 1 and 2 years after HSCT depending on the parameter investigated. Pathological values 1 and 2 years after HSCT were found for alpha1-MG excretion in 40% and 39%, respectively, for TP/Cl(cr) in 44% and 45%, for beta-NAG in 26% and 19%. Median TP/Cl(cr) was significantly lower 2 years after HSCT than before. TAA was mildly impaired in 7/14 patients before, in 5/29 one and in 9/29 2 years after HSCT, but median TAA was within normal range at all times. The median excretion of albumin, THP and calcium was within the normal range at all investigations. No influence of ifosfamide pre-treatment on the severity of tubulopathy was found. The investigation of tubular renal function should be part of a long-term follow-up in children after HSCT.

Prevalence of anti-neutrophil cytoplasmic antibodies (ANCA) in juvenile chronic arthritis.

OBJECTIVE: Sera from 66 children with active JCA of oligoarticular, polyarticular or systemic onset, 13 sera from patients in disease remission, 15 sera from patients with reactive arthritis, and 11 from Lyme arthritis patients were tested for the presence of anti-neutrophil cytoplasmic antibodies (ANCA) in order to evaluate their diagnostic significance in JCA. RESULTS: ANCA were found in 21% (14/66) of the active JCA sera, all showing an atypical pANCA staining pattern using indirect immunofluorescence on ethanol fixed granulocytes. 71% of these sera also showed antinuclear antibodies (ANA) on HEp-2 cells. By additional staining on paraformaldehyde fixed granulocytes to exclude staining artefacts due to ethanol fixation, 2 of the pANCA positive sera showed cytoplasmic staining. In no case did we find nuclear fluorescence suggesting a true cytoplasmic localization of the involved antigens. All ANCA positive sera were negative for anti-MPO and anti-LF antibodies. ANCA prevalence in our study group did not correlate with the disease subgroup, disease duration or other clinical characteristics. However, we found ANCA only in active disease. CONCLUSION: Our data suggest that the diagnostic importance of ANCA in JCA is restricted to only a few JCA patients. In these cases, however, ANCA positivity supports the diagnosis of JCA. Further studies are needed to substantiate this finding, as well as possible subgroup specificities. Standardized techniques of granulocyte fixation and antigen specific tests are needed to produce comparable results in different study groups.

Lack of correlation between CFTR expression, CFTR Cl- currents, amiloride-sensitive Na+ conductance, and cystic fibrosis phenotype.

Cystic fibrosis (CF) is characterized by defective Cl- and enhanced Na+ conductance, both due to malfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein in airway epithelial cells. In the present study we examined whether expression of CFTR mRNA (CFTR messenger ribonucleic acid) is different in airway epithelia derived from either CF patients or healthy volunteers. Moreover, we tried to correlate differences in epithelial Cl- and Na+ conductance with the level of CFTR mRNA expression and studied whether these properties correlate to the clinical phenotype of CF patients. To that end, CFTR mRNA was determined by means of quantitative reverse transcriptase polymerase chain reaction (RT-PCR) and cyclic adenosine monophosphate (cAMP)-activated Cl- and epithelial Na+ conductances were examined in airway epithelial cells using microelectrode techniques. Complementary in vitro data were obtained from cultured CF and non-CF airway epithelial cell lines. Genotype and Shwachman score were assessed for each patient. We found variable levels of CFTR mRNA expression in airway cells of both CF patients and healthy volunteers. As expected, epithelial Na+ conductance was enhanced and CFTR Cl- conductance was absent in airway cells from CF patients. However, CFTR mRNA expression did not correlate with either electrophysiological properties or Shwachman scores obtained from CF patients. In addition, CFTR mRNA expression did not correlate to Cl- conductance in cultured CF and non-CF airway epithelial cells. These results indicate a lack of correlation between levels of CFTR mRNA and CFTR function, and that only small amounts of CFTR are required for expression of the CFTR Cl- conductance.

Oral Anticoagulation in patients with gynecological cancer and radiotherapy: a retrospective analysis of 132 patients.

Venous thromboembolism is reported to be a leading cause of death and morbidity after surgery and during radiotherapy for gynecologic malignancies. This study was performed to evaluate the incidence of thromboembolism as well as the benefit and risk of its prophylaxis with coumarin in this patient selection. Between 1988 and 1992, 132 patients with gynecologic malignancies underwent postoperative or primary radiotherapy (53 patients without prior surgery). Heparin (5000 IU t.i.d., s.c.) was administered perioperatively, and coumarin (International normalized ratio = INR target 2.0-3.5) was given to all patients during radiotherapy. Daily visits for inspection of the legs and for possible symptoms and signs of thromboembolism were performed. In case of diagnostic doubts, impedance plethysmography and phlebography for diagnosis of venous thrombosis, and lung scanning for diagnosis of pulmonary embolism were performed. Among the 132 patients, 9 (6.8%) developed deep venous thrombosis of the renal vein and of the inferior caval vein occurred in one additional patient. Pulmonary embolism was detected in 5 patients (3.8%). All thromboembolic events were without lethal outcome. Bleeding episodes were observed in 7 patients (5.3%); in two of them a major bleeding led to cessation of coumarin administration. The prophylaxis of thromboembolism in gynecologic oncology with coumarin seems to be effective, safe and inexpensive.

Value of RARE-MRI sequences in the diagnosis of lymphangiomatosis in children.

Three patients suffering from extensive cavernous lymphangiomatosis are presented here. They were examined by MRI using RARE-MR hydrography (rapid acquisition with relaxation enhancement) as well as conventional spin-echo sequences. RARE sequences, which depict each fluid-filled lymphatic space, can be used for screening. RARE-sequences help to shorten investigation time, particularly in cases involving the skeleton. The imaging strategy can be changed according to the results of this sequence. It may be performed prior to spin-echo sequences and facilitates follow-up investigations. RARE sequences distinguish between lymphangiomatosis and hemangiomatosis, or a combination of the two.

Endothelin (ET-1) is involved in the contrast media induced nephrotoxicity in children with congenital heart disease.

In 77 children with congenital heart disease urinary endothelin-1 (ET-1), an indicator of intrarenal endothelin release, was compared to urinary excretion of total protein, albumin, immunoglobuline G (IgG), alpha 1-microglobuline (alpha 1-MG), N-acetyl-beta-D-glucosaminidase (NAG) and villin. Urine samples were collected the day before and immediately after cardiac angiography with high (Conray 70; n = 56; CON) or low osmolality contrast media (Solutrast 300; n = 21; SOL) to assess the relationship between urinary endothelin and glomerular and tubular nephrotoxicity of contrast media. The children were further subdivided according to age: less than 1 year-CON 1 (n = 20); SOL 1 (n = 12) and 1-18 years CON 2 (n = 36); SOL 2 (n = 9). Results (median): 1. There are no significant changes in total protein-, albumin- and IgG-excretion as parameters of glomerular toxicity. 2. Tubular toxicity of contrast media is shown by significant increase of alpha 1-MG-(10.0 to 23.2 mg/g Crea; p < 0.001), NAG-(5.9 to 9.6 mg/g Crea; p < 0.001) and Villin-excretion (1.0 to 2.0 STS, p < 0.001) in all children. 3. Endothelin excretion (101.0 to 163.0 ng/g Crea, p < 0.001) and concentration (42.5 to 56.0 pg/ml; p < 0.001) were elevated after angiography in all children. 4. The changes in endothelin excretion are correlated to the changes in alpha 1-MG (r = 0.65; p < 0.001) and NAG (r = 0.43, p < 0.001) in all children.(ABSTRACT TRUNCATED AT 250 WORDS)

Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx.

A 14-year-old girl with focal dermal hypoplasia (Goltz-Gorlin-syndrome) presented with dysphagia, hoarseness, inspiratory stridor, intermittent dry cough and a 10% weight loss. Endoscopy showed that these symptoms were caused by papillomatosis of the hypopharynx and the larynx. The papillomatous masses were resected subtotally by endoscopic laser treatment. Residual papillomas were left in the subglottic space but tracheotomy could be avoided. Complete clinical recovery with adequate weight gain as well as, resolution of dyspnoe and dysphagia resulted after the intervention. Histological examination did not show morphological signs of human papilloma virus as an etiological agent.

Use of a myocutaneous flap after resection of a large lymphangioma.

UNLABELLED: We report on an 11-year-old girl with a large lymphangioma involving the lower third of the abdominal wall, the mons pubis, both labia majora, the perianal region and extending into the pelvic bones. Because of an increasing lymphorrhea from the cutaneous lesions resulting in considerable discomfort and skin infections, the patient sought medical advice. After lymphological check-up excluded the existence of a chylous reflux, the patient was presented at a multidisciplinary medical council. A palliative surgical treatment was recommended consisting of the resection of the most affected suprapubic region and the coverage of the resulting tissue defect with a gracilis myocutaneous flap. Postoperatively, a venous stasis at the tip of the skin paddle developed, which was relieved by the use of leeches and required secondary closure. Despite these complications, the surgical intervention yielded an acceptable cosmetic result, a diminution of lymphorrhea and hence subjectively some relief. CONCLUSION: Due to the variability of lymphangiomas, an assessment by a multidisciplinary consultation is proposed. With respect to therapy, the use of a myocutaneous flap represents one of the therapeutic options for large cutaneous lymphangiomas.