Localización atípica de un lipoblastoma en una niña de 5 años / Atypical location of lipoblastoma in a 5-year-old girl

Se informa de un lipoblastoma perineal en una niña de 5 años localizado en el labio mayor derecho. La lesión aumentó gradualmente en 6 meses. En la ecografía y la resonancia magnética (RM), se observó un tumor heterogéneo sólido limitado con componente graso. Tras su extirpación quirúrgica, el estudio anatomopatológico confirmó un lipoblastoma. El lipoblastoma es un tumor mesenquimatoso benigno poco frecuente de la lactancia y la primera infancia. Los síntomas varían en función de la localización; pueden observarse signos de compresión de los órganos adyacentes. Este tipo de tumores inusuales de los tejidos blandos son más frecuentes en menores de 3 años. Los lipoblastomas se localizan predominantemente en las extremidades, pero también pueden encontrarse en la cabeza y el cuello, el tronco, el mediastino, el riñón, el mesenterio, el retroperitoneo y el perineo. Se debe sospechar su presencia en función de los hallazgos de la ecografía y la RM.

We reported a perineal lipoblastoma in a 5-year-old girl located in the right labia mayor. The lesion gradually increased within 6 months. Ultrasound and magnetic resonance imaging (MRI) showed a limited solid heterogenous tumor with fatty component. After it had been surgically removed, the anatomopathological examination confirmed that it was a lipoblastoma. Lipoblastoma is a rare benign mesenchymal tumor of infancy and early childhood. Symptoms vary depending on localization; signs of compression of adjacent organs may be seen. This type of unusual soft tissue tumors occurred most often in under 3 years old. The localization of lipoblastomas is predominantly in the extremities but may be also found in other sites including the head and neck, trunk, mediastinum, kidney, mesentery, retropritoneum and perineum. The suspicion should be considered according to ultrasound and MRI findings.

Head and neck lipoblastoma in children: A case report and systematic review.

BACKGROUND: Lipoblastoma is a rare and benign tumor arising from embryonal fat cells. It develops primarily in infancy and early childhood. We present a case study of a 10-month-old child treated for an extensive tumor of the infratemporal fossa and parapharyngeal space. The systematic review of 60 reports in 80 children with lipoblastoma of the head and neck is also reported. MATERIAL AND METHODS: Systematic review of all articles included lipoblastomas of the head and neck area in children published from 1964 to 2022 in the PubMed database was conducted. Clinical presentation of extensive lipoblastoma of the head and neck in a child. RESULTS: On the basis of all inclusion criteria 83 articles were identified concerning pediatric lipoblastoma. There were 36 F (45%) and 39 M (48%), in 6 patients, (7%) gender was not specified. Ages ranged from 0mth (6h) to 15 yo (180mth). The tumor was located in the head in 22 (27%) cases, while the neck area accounted for 53 (65%) cases. General description without precise location was shown in 6 (7%) cases. All patients underwent complete surgical excision. Post surgical recurrence was noted in 6% clinical cases in the analyzed articles. CONCLUSIONS: Lipoblastoma is characterized by a rapidly growing predominantly adipose mass. The treatment of choice is complete surgical excision. In selected cases when the pathology is hard to reach, as a consequence of the extensive penetration of the mass, we recommend performing the procedure with an interdisciplinary team. Endoscopy assistance and microdebrider significantly facilitated the removal of pathology in the described advanced case of lipoblastoma. This is the only case reported in the pediatric literature of a head and neck lipoblastoma, where due to extensive involvement and location of the disease the cranial nerves V2 and inferior alveolar branch of V3 could not be spared. Long-term follow-up even to 10 years is required because there is a reported tendency for these tumors to recur.

Lipoblastomatosis Extended into the Lumbar Spinal Canal in a Child: A Case Report.

INTRODUCTION: Lipoblastoma and lipoblastomatosis are rare benign mesenchymal adipose tumors that originate from embryonic white adipocytes and occur most commonly in infancy and early childhood. Lipoblastomas occur in the extremities and trunk, including the retroperitoneum and peritoneal cavity. Therefore, infiltration into the spinal canal has rarely been reported. CASE PRESENTATION: A 4-year-old girl presented to our clinic because of difficulty sitting on the floor with her legs straight. She also complained of enuresis and constipation for the past 6 months with persistent headaches and back pain evoked by body anteflexion. A magnetic resonance imaging revealed a massive lesion of the psoas major muscle, retroperitoneal, and subcutaneous spaces, extending into the spinal epidural space between L2 and S1. The patient underwent surgery which resulted in gross total removal of the tumor from the spinal canal. The mass was yellowish, soft, lobulated, fatty, and easily removed from the surrounding structures. Pathology confirmed the diagnosis of lipoblastoma. The postoperative course was uneventful, and the patient was discharged without any signs of neurological deficit. CONCLUSION: We herein discuss a rare case of lipoblastoma extending into the spinal canal, resulting in neurological symptoms. Although this tumor is benign with no potential for metastasis, it is prone to local recurrence. Therefore, close postoperative observation should be performed.

Pérdida ponderal como debut de lipoblastoma mesentérico en un lactante / Weight loss as clinical presentation of mesenteric lipoblastoma in an infant

Introducción: el estancamiento ponderal durante el segundo año de vida es un motivo frecuente de consulta que requiere seguimiento y, en ocasiones, pruebas complementarias con el fin de descartar las causas más frecuentes a esta edad, tales como infecciones o síndromes malabsortivos. Se presenta el caso de un lactante con estancamiento ponderal de etiología poco frecuente. Caso clínico: varón que a partir de los 15 meses de edad comienza con pérdida ponderal, con apetito y estado general conservados, sin otros síntomas. Se objetiva un descenso de peso desde el percentil 75 hasta el percentil 25 a lo largo de tres meses, sin repercusión en la talla ni el perímetro cefálico. A la exploración física tenía aspecto desnutrido, con distensión y timpanismo abdominal. Se solicitan pruebas complementarias, incluyendo anticuerpos de celiaquía por sospecha de síndrome malabsortivo, que fueron normales. En la ecografía abdominal se observa imagen compatible con tumoración de gran tamaño. Ante estos hallazgos, se amplían pruebas de imagen mediante tomografía computarizada (TC) y resonancia magnética (RM) abdominales, donde se encuentra una imagen compatible con lipoblastoma mesentérico. Se interviene quirúrgicamente a los 20 meses, confirmándose en el estudio histológico el diagnóstico de sospecha. Conclusión: los lipoblastomas son tumores benignos, infrecuentes, prácticamente exclusivos de la edad pediátrica. Generalmente se localizan en zonas superficiales, siendo estos asintomáticos. Los de localización profunda, como el del caso descrito, son excepcionales y pueden producir síntomas secundarios a compresión local. El diagnóstico definitivo se realiza mediante estudio histológico, siendo la exéresis el tratamiento de elección (AU)

Introduction: loss weight in the second year of life is a frequent reason for consultation that requires follow-up and sometimes work up complementary in order to rule out the most frequent causes at this age, such as infections or malabsorptive diseases. We present the case of an infant with weight stagnation secondary to an unfrequent cause.Clinical case: a male began with weight loss at 15 months of age, with appetite and general condition preserved without other symptoms. A decrease in weight percentile was observed from 75th to the 25th percentile over three months without repercussions on height or head circumference. On physical examination, he appeared thinned, with abdominal distension and tympanism. Complementary tests, including celiac disease antibodies to suspected malabsorptive syndrome were ordered, without patological findings. Abdominal ultrasound showed an image compatible with a big tumor. With these findings, an abdominal CT scan and MRI were performed, and an image compatible with mesenteric lipoblastoma was found. Surgery was performed at 20 months, supporting the suspected diagnosis in the histological study.Conclusion: lipoblastomas are infrequent benign tumors, mainly exclusive of the pediatric age. Frecuently, they are located in superficial areas, and are asymptomatic. Those of deep localization, as the described case, are usually exceptional, and may present symptoms secondary to local compression. The definitive diagnosis is made by histological study and the removal the treatment of choice. (AU)

Mesenteric lipoblastomatosis: an uncommon fat-containing childhood tumour diagnosed on imaging.

Lipoblastomatosis of mesentery is an extremely rare benign fat-containing mesenchymal tumour in infants and young children. On imaging, it appears as a solid infiltrating mass interspersed with macroscopic fat. We describe the distinctive imaging features of a large mesenteric Lipoblastomatosis, corroborated with intraoperative and histopathological features. We hope the case report and short review about this rare entity will increase the diagnostic confidence of reading radiologists while formulating differentials for lesions of similar appearance in the paediatric age group.

Primary cardiac lipoblastoma of the right atrium.

Lipoblastoma is a rare neoplasm of the embryonal white fat. It occurs most commonly in children under the age of 3 years and usually inflicts the superficial soft tissues of trunk and extremities. We present the case of a 3-year-old male patient with a successfully resected primary cardiac right-atrial lipoblastoma with COL1A2::PLAG1 gene fusion.

Atypical location of lipoblastoma in a 5-year-old girl. / Localización atípica de un lipoblastoma en una niña de 5 años.

We reported a perineal lipoblastoma in a 5-year-old girl located in the right labia mayor. The lesion gradually increased within 6 months. Ultrasound and magnetic resonance imaging (MRI) showed a limited solid heterogenous tumor with fatty component. After it had been surgically removed, the anatomopathological examination confirmed that it was a lipoblastoma. Lipoblastoma is a rare benign mesenchymal tumor of infancy and early childhood. Symptoms vary depending on localization; signs of compression of adjacent organs may be seen. This type of unusual soft tissue tumors occurred most often in under 3 years old. The localization of lipoblastomas is predominantly in the extremities but may be also found in other sites including the head and neck, trunk, mediastinum, kidney, mesentery, retropritoneum and perineum. The suspicion should be considered according to ultrasound and MRI findings.

Se informa de un lipoblastoma perineal en una niña de 5 años localizado en el labio mayor derecho. La lesión aumentó gradualmente en 6 meses. En la ecografía y la resonancia magnética (RM), se observó un tumor heterogéneo sólido limitado con componente graso. Tras su extirpación quirúrgica, el estudio anatomopatológico confirmó un lipoblastoma. El lipoblastoma es un tumor mesenquimatoso benigno poco frecuente de la lactancia y la primera infancia. Los síntomas varían en función de la localización; pueden observarse signos de compresión de los órganos adyacentes. Este tipo de tumores inusuales de los tejidos blandos son más frecuentes en menores de 3 años. Los lipoblastomas se localizan predominantemente en las extremidades, pero también pueden encontrarse en la cabeza y el cuello, el tronco, el mediastino, el riñón, el mesenterio, el retroperitoneo y el perineo. Se debe sospechar su presencia en función de los hallazgos de la ecografía y la RM.

Metastatic lipoblastoma-like tumour.

INTRODUCTION: Lipoblastoma-like tumours (LLT) are uncommon and their biologic nature is not well-understood. Complete resection of the primary lesion is usually curative. This is the first reported case of metastatic LLT. CASE PRESENTATION AND MANAGEMENT: This patient originally had a large primary resected from the vulva. She subsequently developed tumours in multiple areas including her right pleura and lung. These were resected and pathology was consistent with LLT. On follow-up imaging, there was evidence of metastatic disease. CONCLUSION: The patient is currently undergoing detailed molecular analysis in the hope of detecting a molecular target. Given the infrequent occurrence of LLT, its behaviour is not well understood. Longer duration of follow up is required and prognostic markers need to be identified to better direct treatment.

Lipoblastoma of the extremities.

BACKGROUND: Lipoblastoma is a rare benign tumor of infancy and childhood, with similar radiographic imaging findings as malignant liposarcoma. Therefore, it is crucial to distinguish through other diagnostics and clinical features. We present our experience with the diagnosis and clinical management of this entity. METHODS: A retrospective chart review was performed to identify children treated for lipoblastoma at our institution over a 30-year period. Charts were evaluated for diagnostic methods, treatment, and recurrence risk. RESULTS: A total of 9 males and 3 females were identified. The age at diagnosis ranged from 8 months to 44 years. Imaging modalities employed included ultrasound (N = 5), MRI (N = 12), X-ray (N = 8), and CT (N = 3). The tumor location was reported in the lower extremity (N = 8) and upper extremity (N = 4). The tumor size ranged from 1.7 to 18 cm (mean=7.08 cm). All patients underwent complete resection. Available pathology reports noted masses featuring mature adipocytes (N = 1), fibrous septa (N = 2), focal myxoid changes (N = 1), and spindle cells (N = 2). Nine patients underwent chromosomal analysis, which demonstrated five chromosome 8 abnormalities. No recurrences were reported. Three patients had follow-up imaging, and 11 had follow-up visits between 2 weeks to 15 years. CONCLUSION: Lipoblastoma is an uncommon childhood neoplasm of embryonic white fat that can also be present in adolescence and adulthood. Imaging, especially MRI, is helpful in limiting the differential diagnosis, but definitive diagnosis requires tissue biopsy, which should be obtained with core biopsy rather than fine needle aspiration. Surgical resection is curative with few complications. We do not recommend routine monitoring as recurrence is unlikely.

Intrascrotal Lipoblastoma: A Rare Cause of Paratesticular Mass in a Pediatric Patient.

There is a broad differential diagnosis for a pre-pubertal child presenting with a scrotal mass including both benign and malignant etiologies. Lipoblastomas are rare benign neoplasms originating from fat cells that occur most commonly on the trunk or extremities of young children. There have been less than 20 cases of scrotal lipoblastomas reported in the literature, with the majority occurring in children less than 3 years of age. Here we present a unique case of an 18-month male presenting with a paratesticular mass found to be a lipoblastoma on final pathology.

Paediatric thoracic wall lipoblastoma in a 7-year old: a rare tumour of childhood.

Lipoblastoma is a rare benign mesenchymal tumour derived from embryonic white fat tissue. Lipoblastoma generally occurs in children less than 3 years of age, and fewer than 200 cases have been reported in the English literature. There are hardly a dozen reports describing intrathoracic and thoracic involvement. We report a case of a 7-year-old boy who presented with a slowly growing right thoracic wall mass for a duration of 1 year. Radiological investigations (ultrasonography and contrast-enhanced CT of the chest showed the presence of a fat-containing, low density extrapulmonary soft tissue mass) could not confirm the diagnosis, and repeat biopsies also were not conclusive. The mass was excised and histopathology confirmed it as lipoblastoma. A review of literature pertaining to the clinical presentation, radiological features and histopathology of this rare condition has been discussed.

Lipoblastoma of scalp in a 4-month-old patient: an extremely rare case report and review of the literature.

Lipoblastoma is a rare benign tumor originating from adipose tissue, usually seen in infancy and early childhood. Here, we present a case of scalp lipoblastoma in a 4-month-old that we treated surgically and review the literature. Although lipoblastomas may be seen in various locations during infancy and early childhood, rarely, they can also develop in the scalp.

Lipoblastoma de extremidades y tronco: recurrencia local y complicaciones después de la resección marginal. Estudio multicéntrico / Limb and trunk lipoblastoma: Local recurrence and complications after marginal resection. A multicenter study

Objetivo: El lipoblastoma es una neoplasia benigna poco común que puede presentarse como un tumor localizado o difuso (lipoblastomatosis). Debido a su rareza, se han publicado, en su mayoría, solo reportes de casos. El objetivo de este estudio fue determinar la tasa de recurrencia local y las complicaciones después de la resección marginal de lipoblastomas ubicados en extremidades y tronco. Materiales y métodos: Se realizó una revisión retrospectiva multicéntrica de los registros de pacientes pediátricos sometidos a extirpación quirúrgica de lipoblastomas en cuatro instituciones, entre 2008 y 2018. Se registraron las siguientes variables: datos demográficos, método diagnóstico, volumen de la lesión, tipo de biopsia, complicaciones, recurrencia y necesidad de procedimientos adicionales. Resultados: Durante el período de estudio, 17 pacientes cumplieron los criterios de inclusión para la evaluación. La media de la edad era de 3.9 años y el 65% eran varones. Las ubicaciones más frecuentes fueron: muslos (n = 9), columna lumbar (n = 2) y glúteos (n = 2). El volumen de masa preoperatorio medio fue de 305,5 cm3 (rango: 10,2-1745,8). La duración media del seguimiento fue de 2.8 años (rango: de 8 meses a 5.6 años). Hubo una recurrencia (5,9%) y una cicatriz retraída en el área glútea como complicación. Ninguno requirió una nueva intervención. Conclusión: La resección quirúrgica marginal de lipoblastomas localizados en el dorso o las extremidades genera una baja tasa de recurrencia a los 2.8 años de seguimiento y mínimas complicaciones. Nivel de Evidencia: IV

Objectives: Lipoblastoma is a rare benign neoplasm that resembles white fat and can occur as a localized (lipoblastoma) or diffuse (lipoblastomatosis) tumor. Due to its rarity, the literature is mostly limited to case reports. The purpose of this study was to determine the local recurrence rate and complications after marginal resection of lipoblastomas located in the extremities or the back. Materials and methods: We performed a multicenter retrospective review of the records of pediatric patients who had undergone surgical excision of lipoblastomas at 4 tertiary care institutions from 2008 to 2018. We recorded the demographic data, diagnostic method, the volume of the lesion, type of biopsy, complications, recurrence, and the need for additional procedures. Results: Throughout the study, 17 patients met the inclusion criteria for evaluation. The average patient age was 3.9 years, and 65% were male. The most common locations included thighs (N 9), low back region (N 2), and buttocks (N 2). The mean preoperative mass volume was 305.5 cm3(range: 10.2 cm3 - 1745.8 cm3). The mean duration of follow-up was 2.8 years (range: 8 months to 5.6 years). One patient experienced recurrence (5.9%). One patient had a retracted skin scarring in the gluteal area. Conclusion: Marginal surgical resection of lipoblastomas located in the back or extremities showed a low recurrence rate at 2.8 years of follow-up and minimal complications. Level of Evidence: IV

Large intrathoracic lipoblastoma.

Lipoblastoma is a rare benign tumor of primitive white fat in children, which usually involves the trunk and extremities. It rarely involves retroperitoneum, head, neck, and mediastinum. Herein, the authors introduce a rare presentation of lipoblastoma as a large intrathoracic mass.

Cardiac lipoblastoma of the pulmonary valve: A rare tumor in an unusual location.

BACKGROUD: Lipoblastoma is a rare, benign, fatty tissue tumour tumor that occurs in infancy and early childhood. Intrathoracic and mediastinal involvement of this tumour is rare, and an intracardiac location is even rarer. AIMS: To report the first case of a lipoblastoma in the pulmonary valve. MATERIALS: In this study, we report the case of a 15-month-old girl who presented with a tumour in the pulmonary valve. RESULTS: The tumour was completely resected macroscopically. Histological examination of the lesion confirmed the diagnosis of lipoblastoma. DISCUSSION: Most primary cardiac tumours are benign in the sense they are not invasive. However, benign tumours maintain the potential for serious illness related to significant haemodynamic compromise or life-threatening dysrhythmias. Due to the association of lipoblastoma with other heart malformations, preoperative diagnosis remains challenging. CONCLUSION: Tumours on the heart valve are more likely to cause haemodynamic disturbances. Complete resection yields an excellent prognosis.

A large retroperitoneal lipoblastoma as an incidental finding: a case report.

BACKGROUND: Lipoblastoma is a rare benign mesenchymal neoplasm of infancy that most commonly occurs on the extremities and trunk but can arise at variable sites of the body. Retroperitoneal lipoblastomas are particularly rare but can grow to enormous size, and preoperative diagnosis is difficult with diverse, mostly malignant differential diagnoses that would lead to aggressive therapy. Since lipoblastoma is a benign tumor that has an excellent prognosis after resection, correct diagnosis is crucial. CASE PRESENTATION: A case of a large retroperitoneal tumor of a 24-month old infant that was clinically suspicious of a malignant tumor is presented. Due to proximity to the right kidney, clinically most probably a nephroblastoma or clear cell sarcoma of the kidney was suspected. Radiological findings were ambiguous. Therefore, the mass was biopsied, and histology revealed an adipocytic lesion. Although mostly composed of mature adipocytes, in view of the age of the patient, the differential diagnosis of a (maturing) lipoblastoma was raised, which was supported by molecular analysis demonstrating a HAS2-PLAG1 fusion. The tumor was completely resected, and further histopathological workup led to the final diagnosis of a 13 cm large retroperitoneal maturing lipoblastoma. The child recovered promptly from surgery and showed no evidence of recurrence so far. CONCLUSION: Although rare, lipoblastoma should be included in the differential diagnoses of retroperitoneal tumors in infants and children, and molecular diagnostic approaches could be a helpful diagnostic adjunct in challenging cases.

Lipoblastomas and liposarcomas in paediatric patients: A case series.

Lipoblastomas and liposarcomas are rare causes of soft tissue masses in paediatric patients. In this retrospective clinical case series we identified 11 patients from our paediatric database (10 with a lipoblastoma and one with a liposarcoma) who had attended our hospital between 1998 and 2019. The median age of patients with lipoblastoma was 29 months. All lipoblastoma cases were managed with surgical excision and histological examination. The 18-year old patient with liposarcoma presented with a metastatic and unresectable tumour that was unresponsive to chemotherapy and radiation. Our experience demonstrates the importance of differentiating the type of soft tissue mass in children.

Congenital tongue base lipoblastoma causing neonatal airway compromise.

Lipoblastomas are benign tumours of immature fat cells presenting in infancy. A lipoblastoma within the airway lumen causing airway compromise is an extremely rare occurrence. We present a 6 hours of life girl who had airway compromise due to a lobulated mass at the base of the tongue. The mass was excised after emergency endotracheal intubation.

Imaging of head and neck lipoblastoma: case report and systematic review.

Lipoblastoma is a rare and benign tumour arising from embryonal fat cells, predominantly diagnosed in children younger than 3 years old. The most frequent locations are the extremities and trunk, while the head and neck areas are more rarely affected (10-15% of total cases). Clinically, the most common presentation is a fast-growing painless mass. Ultrasound is the first-line imaging examination, but Magnetic Resonance Imaging (MRI) allows for better definition of the relationships with the adjacent vascular and muscular structures. It can help to identify the lipomatous components, and it is useful for preoperative planning. However, the definitive diagnosis is provided by histopathological examination. Complete surgical excision is the first-line treatment, with a good prognosis in case of total eradication. We report the case of a 7-month-old male child with a rapidly growing mass that had typical radiological features of lipoblastoma.