Juan Carlos Lopez-Gutierrez

Long‐term outcome of vincristine–aspirin–ticlopidine (VAT) therapy for vascular tumors associated with kasabach–merritt phenomenon

. This study aimed to clarify the combinatorial treatment effect of agents as aspirin and ticlopidine associated with vincristine in the management of Kasabach–Merritt phenomenon (KMP), a severe thrombocytopenic coagulopathy that occurs in the presence of an enlarging vascular tumor such as kaposiform hemangioendothelioma (KHE) and tufted angioma (TA).

Neurofibromatosis type 1 with external genitalia involvement presentation of 4 patients.

Genitourinary neurofibromas with clitoral involvement in neurofibromatosis type 1 are rare, and even more infrequent are the neurofibromas involving genitalia in males. The most frequent presenting sign of neurofibroma in females is clitoromegaly with pseudopenis, and enlarged penis is the most common sign in males. Labium majus neurofibroma not associated with clitoral involvement is extremely rare. Magnetic resonance imaging demonstration of the neurofibromas has seldom been reported. We report 4 children, 3 girls and 1 boy, with plexiform neurofibromas involving the external genitalia. Three of the 4 patients had histologic confirmation of neurofibroma. Two girls with clitoral hypertrophy had a neurofibroma that infiltrated the clitoris and extended unilaterally to the lower bladder wall. One girl had a plexiform neurofibroma that affected a labium. One boy with asymmetric penile hypertrophy since 2 years of age and ipsilateral gluteal hypertrophy had plexiform neurofibromas that extended between the left lumbogluteal and penile regions, infiltrating the left rectum wall and bladder with compression of both structures, the left prostate, and the left half of the cavernous corpi with hypertrophy of this part and asymmetry of the penis. Magnetic resonance imaging demonstrated in all patients that external genitalia and plexiform neurofibroma formed images of nondetachable structures. However, hermaphroditism was discarded by chromosomal study in all 3 girls before ratifying the diagnosis of external genitalia neurofibroma.

Brain perfusion SPECT in patients with PHACES syndrome under propranolol treatment.

INTRODUCTION Children with PHACES syndrome (PS) and visual impairment or stridor show a dramatic and immediate response to propranolol. However, this beta-blocking drug could be responsible for an eventually increased risk of ischemic stroke due to the underlying cerebral vascular disease. To more accurately understand the effects of propranolol on brain vascularization, we examined PS patients treated with this drug for airway or visual complications using brain perfusion SPECT (Single Photon Emission Computed Tomography). In the past, this examination has been shown to be useful in the management of patients with different neurovascular disorders. METHODS Clinical records and imaging studies were reviewed in 7 patients with a diagnosis of PS. All patients underwent magnetic resonance angiography (MRA), echocardiography, chest X-ray and ophthalmologic, neurological, and cardiologic assessments. They received 2-3 mg/kg/day propranolol in an attempt to treat stridor or avoid ophthalmologic occlusion. We performed SPECT after 3-6 months of treatment. RESULTS SPECT showed a normal uptake in the frontal and temporal regions despite vascular abnormalities found with MRA imaging. Significant improvements of symptoms and in the volume of the hemangioma were noted in all cases without signs of a reduction of brain blood perfusion. CONCLUSIONS Propranolol treatment was safe in our patients who did not show signs of perfusion changes. The high sensitivity for detecting functional impairment makes brain perfusion SPECT useful in the diagnosis and follow-up of patients with PS considered at risk of neurovascular impairment. Accurate knowledge of its pathophysiological basis, together with the appropriate technique and careful interpretation of reporting, will enhance the clinical use of brain SPECT in those patients.

VINCRISTINE-TICLOPIDINE-ASPIRIN: AN EFFECTIVE THERAPY IN CHILDREN WITH KASABACH-MERRITT PHENOMENON ASSOCIATED WITH VASCULAR TUMORS

Kasabach-Merritt phenomenon (KMP) is a serious coagulopathy with severe thrombocytopenia (<10,000/mm3) that occurs in the presence of an enlarging vascular tumor such as kaposiform hemangioendothelioma (KHE) and tufted angioma (TA). The natural history and treatment of these lesions remain controversial. The authors report a KHE case and a TA case that presented with KMP, describing their successful pharmacological management with vincristine, ticlopidine, and aspirin.

Dental Caries As a Side Effect of Infantile Hemangioma Treatment with Propranolol Solution

Abstract:  We report the case of an 18‐month‐old boy who presented with caries in the upper central incisors associated with the use of propranolol solution for the treatment of an infantile hemangioma. This side effect of propranolol solution has not been reported before, and it may result from a sucrose‐based excipient of the solution, or decreased salivation caused by beta‐adrenergic antagonist effect of propranolol.

Heterogenicidad del síndrome de Gorham-Stout: asociaciÓn a malformaciones linfáticas y venosas

Introducci on El sindrome de Gorham-Stout constituye una rara enfermedad de etiologia desconocida que se caracteriza por osteolisis rapidamente progresiva y proliferacion microscopica de vasos anormales. Presentamos 2 casos clinicos asociados a malformaciones linfaticovenosas. Casos clinicos El primer caso es un varon de 5 anos afecto de linfangiomatosis generalizada de evolucion desfavorable, con importante afectacion pleural y lesiones osteoliticas. El segundo caso se trata de una nina de 5 anos diagnosticada de sindrome de Klippel-Trenaunay con importante afectacion osea en miembros inferiores y fractura patologica secundaria. Conclusiones El sindrome de Gorham-Stout puede presentarse ocasionalmente asociado a distintas malformaciones linfaticovenosas. La afectacion linfatica del hueso puede provocar osteolisis y resorcion osea.

Sirolimus in the Treatment of Vascular Anomalies

Aim of the Study mTOR inhibitors are showing promising results in the management of vascular anomalies. Although current controlled trials remain to be completed, many individual experiences are being published. We present our series of children with complex vascular anomalies treated with sirolimus. Patients and Methods A retrospective review of 41 patients treated with sirolimus between January 2011 and December 2015 was performed: 15% (n = 6) had vascular tumors (4 kaposiform hemangioendotheliomas, 1 PTEN) and 85% (n = 35) had malformations (13 generalized lymphatic anomalies/Gorham‐Stout diseases [GSD], 1 kaposiform lymphangiomatosis [KLA], 11 large lymphatic malformations (LMs) in critical areas, 2 lymphedemas, 4 venous malformations, and 4 aggressive arteriovenous malformations [AVM]). Several variables were collected: type of vascular anomaly, duration of treatment, dosage, response, and secondary effects. Results There was a female predominance (1.4:1). All patients received sirolimus, at initial dosage of 0.8 mg/m2/12 hour. Overall successful response rate was 80.4% of cases, presenting improvement in radiologic imaging and reduction of symptoms, at a median time of 10 weeks. Patients showing no response included four AVMs, one GSD, one LM, one KLA, and one unknown tumor. Sirolimus was well tolerated, even in neonates, with insignificant side effects. No patients had complete resolution and no patients worsened on therapy. Thirty patients remain under treatment at the present moment. Conclusion Sirolimus has become a new therapeutic option for patients with vascular anomalies that do not respond to other treatments. Unfortunately, important questions as what is the most appropriate dosage and for how long should the patient be treated remain unanswered. An international registry followed by customized controlled trials is mandatory to clarify the future of this therapy.

Diagnosis and Treatment of Parkes Weber Syndrome: A Review of 10 Consecutive Patients

BACKGROUND We sought to retrospectively analyze the clinical presentation, diagnosis, treatment, and outcomes of patients with Parkes Weber syndrome (PWS) who were treated at a single institution. METHODS A retrospective review was conducted of medical records of all patients with PWS treated at La Paz Childrens Hospital between 1994 and 2010. RESULTS Ten patients (median age, 14.8 years [range, 2-52 years]) were identified, including 7 women and 3 men. Six patients presented with lower limb hypertrophy and capillary malformation at birth, and both the right and left lower extremities were equally involved. Severe tricuspid insufficiency was observed in 1 patient. The median dysmetria between both lower extremities was 2.19 cm. Four patients are being treated successfully with compression garment therapy. Three patients underwent resection of multiple arteriovenous nidus. Three patients had palliative embolizations. One patient required above the knee amputation secondary to ischemia and chronic severe pain. CONCLUSIONS The early recognition of PWS is required to establish the most appropriate treatment and prevent short-term morbidity and unnecessary invasive diagnostic tests. Treatment should be individualized according to the age and clinical features of each patient. Although initial conservative management is recommended, surgery continues to play an important role in order to improve the quality of life in these patients.

Parkes-Weber Syndrome Associated With a Congenital Short Femur of the Affected Limb

The association of capillary malformation, high-flow arteriovenous fistulas, and limb hypertrophy corresponds to Parkes-Weber syndrome. Most of cases are sporadic, although a first familial case has been recently reported. We report the first observation of a Parkes-Weber vascular anomaly with an underlying congenital short femur.

Osteolysis and Lymphatic Anomalies: A Review of 54 Consecutive Cases

BACKGROUND Progressive osteolysis caused by lympathic malformations is a rare condition that should be known by specialists involved in the study of lymphatic disorders because they are necessarily involved in the treatment. The purpose of the present study is to report on a large series of patients to illustrate the multiple clinical pictures and the wide range of therapeutic measures necessary for arresting bone destruction and lymphatic leak. METHODS AND RESULTS Inclusion criteria were osteolysis associated with lymphatic malformation that required treatment. Diagnosis was based on history, plain X-rays, MRI, and demonstration of the lymphatic nature of the lesions with D2-40 immunohistochemistry. Treatment was based on resection of the bone lytic lesion or soft tissue lymphatic masses, control of chylothorax or chyloperitoneum, interferon, zoledronic acid, and radiotherapy. The study included 54 patients (25 females and 29 males) with a median age of 9 years (range 2 to 65). Eight patients had focal osteolysis without soft tissue lymphatic anomaly, 15 multifocal osteolysis without soft tissue lymphatic anomaly, 7 focal osteolysis associated with soft tissue lymphatic anomaly, and 24 multifocal osteolysis with soft tissue lymphatic anomaly. Among the wide variety of pharmacological therapies provided, only one protocol showed a consistent positive effect (end of ostelytic progression) in 17 patients who received a course of 6 to 15 months of interferon alpha-2B at 1.5 million units/m(2) body surface area/day in association with zoledronic acid at 0.05 mg/kg/month. Thirty-two patients underwent multiple surgical procedures in order to remove the soft tissue involved, correct orthopedic problems, or improve chylothorax, and three were treated with radiotherapy which was successful in one case. CONCLUSIONS Osteolysis from lymphatic origin is a devastating surgical condition. Therapeutic options have to be considered separately if the disease is active or inactive and according to the targeted organ (skin, bone, or viscera). Total removal of the lymphatic anomaly is rarely possible, but its subtotal excision together with pharmacological antiangiogenic therapy in selected patients under surveillance of a multidisciplinary group familiarized with the disease, minimize the progression of both, lymphatic invasion, osteolysis, and their serious complications.