Workhorse Free Functional Muscle Transfer Techniques for Smile Reanimation in Children with Congenital Facial Palsy: Case Report and Systematic Review of the Literature.

BACKGROUND: Pediatric facial palsy represents a rare multifactorial entity. Facial reanimation restores smiling, thus boosting self-confidence and social integration of the affected children. The purpose of this paper is to present a systematic review of microsurgical workhorse free functional muscle transfer procedures with emphasis on the long-term functional, aesthetic, and psychosocial outcomes. MATERIALS AND METHODS: We performed a literature search of the PubMed database from 1995 to 2019 using the following search strategy: "facial paralysis"[Title/Abstract] OR "facial palsy"[Title]. We used as limits: full text, English language, age younger than 18 years, and humans. Two independent reviewers performed the online screening process using Covidence. Forty articles met the inclusion criteria. The protocol was aligned with the PRISMA statement (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) and was registered at the International Prospective Register of Systematic Reviews (PROSPERO, CRD42019150112) of the National Institute for Health Research. RESULTS: Free functional muscle transfer procedures include mainly segmental gracilis, latissimus dorsi, and pectoralis minor muscle transfer. Facial reanimation procedures with the use of the cross-face nerve graft (CFNG) or masseteric nerve result in almost symmetric smiles. The transplanted muscle grows harmoniously along with the craniofacial skeleton. Muscle function and aesthetic outcomes improve over time. All children presented improved self-esteem, oral commissure opening, facial animation, and speech. CONCLUSIONS: A two-stage CFNG plus an FFMT may restore a spontaneous emotive smile in pediatric facial palsy patients. Superior results of children FFMT compared to adults FFMT are probably attributed to greater brain plasticity.

A case of congenital rhabdomyosarcoma.

A 6-month-old girl presented with a congenital orbital tumor diagnosed as congenital embryonal rhabdomyosarcoma. Given the location, complete surgical resection was impossible. Management with chemotherapy and proton therapy resulted in complete clearance. This case highlights the clinical and histologic features of cutaneous congenital embryonal rhabdomyosarcoma.

Congenital Penile Rhabdomyosarcoma on FDG PET/CT.

Primary penile malignancy is uncommon. Congenital primary penile rhabdomyosarcoma diagnosed in an infant is extremely rare. We present the FDG PET/CT findings in a 1-month-old boy with penile mass. The images showed hypermetabolic lesion at the base of the penis and left inguinal lymph node. Pathological examination demonstrated rhabdomyosarcoma.

Tumores nasales congénitos de la linea media / Congenital nasal tumors of the midline in ENT

Las masas nasales congénitas de la línea media se presentan con una frecuencia muy baja ­1/20.000 a 1/40.000 nacidos vivos­. Se trata de hallazgos asintomáticos en el recién nacido y son resultado de anomalías congénitas del desarrollo embrionario, que suelen aparecer como masas en la línea media nasal en un punto cualquiera entre glabela y columela. Estas tumoraciones presentan un riesgo elevado de extensión al sistema nervioso central, lo que es especialmente importante tener en cuenta para prevenir consecuencias tales como la fístula de líquido cefalorraquídeo y/o la aparición de meningitis recidivante. Existen gran cantidad de tumores nasales de la línea media que aparecen en el recién nacido o en el lactante y que constituyen diagnósticos diferenciales de las lesiones congénitas antes descriptas. Describiremos brevemente los más frecuentes según nuestra experiencia. AU

Congenital nasal masses of the midline are very rare ­ 1/20,000 to 1/40,000 live births ­. Nasal tumors are asymptomatic findings in the neonate and are caused by congenital abnormalities during fetal development, usually appearing at the nasal midline between the glabella and columella. These tumors are associated with a high risk of extension to the central nervous system; therefore, it is especially important to prevent the development of a cerebrospinal fluid fistula and/or recurrent meningitis. There is a large number of nasal tumors of the midline in neonates or infants in the differential diagnosis of the above-described congenital lesion. Here we briefly describe the most common nasal tumors seen at our department. AU

Congenital Rhabdomyosarcoma: a different clinical presentation in two cases.

BACKGROUND: Rhabdomyosarcoma (RMS), one of the most common soft tissue sarcomas of childhood, is very rare in the neonatal period (0.4-2% of cases). In order to gain a deeper understanding of this disease at such age, patient and tumor features, as well as treatment modality and outcome need to be reported. CASE PRESENTATION: We describe two cases with congenital RMS treated at Bambino Gesù Children's Hospital between 2000 and 2016. They represent only 2.24% of all RMS patients diagnosed during that period in our Institution; this data is in agreement with the incidence reported in the literature. They reflect the two different clinical forms in which the disease may manifest itself. One patient, with the alveolar subtype (positive for specific PAX3-FOXO1 fusion transcript) and disseminated disease, had a fatal outcome with central nervous system (CNS) progression despite conventional and high dose chemotherapy. The other child, with the localized embryonal subtype, was treated successfully with conservative surgery and conventional chemotherapy, including prolonged maintenance therapy. He is disease free at 7 years of follow-up. CONCLUSIONS: RMS can also be diagnosed during the neonatal period. Given the young age, disease management is often challenging, and especially for the alveolar subtype, the outcome is dismal despite intensified multimodality therapy. In fact, it characteristically manifests with multiple subcutaneous nodules and progression most commonly occurs in the CNS (Rodriguez-Galindo et al., Cancer 92(6):1613-20, 2001). In this context, CNS prophylaxis could play a role in preventing leptomeningeal dissemination, and molecular studies can allow a deeper tumor characterization, treatment stratification and identification of new potential therapeutic targets.

Congenital Eyelid Rhabdomyosarcoma.

Rhabdomyosarcoma is the most common type of soft tissue sarcoma in children. The authors present a rare case of eyelid rhabdomyosarcoma in a newborn, who was found to have a reddish eyelid tumor in his OD. A mass with a clear margin, confined to the upper eyelid, was revealed using orbital MRI. Intralesional steroids were injected under the impression of a capillary hemangioma and the tumor shrank initially, but grew rapidly later. Therefore, a debulking surgery was performed and the final diagnosis was embryonal rhabdomyosarcoma. After the operation, metastases still occurred despite the treatment with chemotherapy and concurrent radiation. The patient expired at 6 months of age. In an autopsy, a neuroblastoma was incidentally found in his left adrenal gland. Early biopsy may help lead to an early correct diagnosis and avoid metastases in similar cases.

Rapidly progressive congenital rhabdomyosarcoma presenting with multiple cutaneous lesions: an uncommon diagnosis and a therapeutic challenge.

Congenital rhabdomyosarcomas (RMSs) are rare tumors with variable clinical presentations. A 2 month-old, term male neonate (37 weeks, 4 days), weighing 3.2kg, born to a 24 year-old primigravida, by simple vaginal delivery presented with multiple erythematous papulonodular lesions over his trunk that progressed to his whole body, on the first day of delivery. Prior to conception, his mother was treated for polycystic ovarian disease. On the tenth day, his chest computed tomogram scans revealed multiple, heterogeneously enhancing, bilateral pleural-based soft tissue density nodular lesions, along with multiple soft tissue density lesions, involving skeletal muscles of all his body parts. Microsections from two biopsies (on 10th day and after 2 months) revealed a malignant round cell tumor with cells arranged in a diffuse, solid pattern, comprising embryonal and solid alveolar components. Immunohistochemically, the tumor cells were diffusely positive for desmin, myoD1 and myogenin. Diagnosis of embryonal and alveolar (mixed type) RMS was offered. Further molecular cytogenetic analysis was negative for PAX3-FKHR and PAX7-FKHR. The patient was induced on chemotherapy as per intergroup rhabdomyosarcoma study IV protocol. There was treatment response with near total remission after 8 weeks of treatment. Thereafter, new lesions started appearing that also disappeared after modification of the chemotherapy drugs. However, after 16 months, the baby died of brain metastasis. The present case forms the fourth case report of an aggressive form of a congenital RMS with extensive cutaneous involvement and brain metastasis. A review of previously diagnosed cases of congenital RMSs is discussed herewith.

Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma.

Spindle cell rhabdomyosarcoma (RMS) is a rare form of RMS with different clinical characteristics between children and adult patients. Its genetic hallmark remains unknown and it remains debatable if there is pathogenetic relationship between the spindle cell and the so-called sclerosing RMS. We studied two pediatric and one adult spindle cell RMS by next generation RNA sequencing and FusionSeq data analysis to detect novel fusions. An SRF-NCOA2 fusion was detected in a spindle cell RMS from the posterior neck in a 7-month-old child. The fusion matched the tumor karyotype and was confirmed by FISH and RT-PCR, which showed fusion of SRF exon 6 to NCOA2 exon 12. Additional 14 spindle cell (from 8 children and 6 adults) and 4 sclerosing (from 2 children and 2 adults) RMS were tested by FISH for the presence of abnormalities in NCOA2, SRF, as well as for PAX3 and NCOA1. NCOA2 rearrangements were found in two additional spindle cell RMS from a 3-month-old and a 4-week-old child. In the latter tumor, TEAD1 was identified by rapid amplification of cDNA ends (RACE) to be the NCOA2 gene fusion partner. None of the adult tumors were positive for NCOA2 rearrangement. Despite similar histomorphology in adults and young children, these results suggest that spindle cell RMS is a heterogeneous disease genetically as well as clinically. Our findings also support a relationship between NCOA2-rearranged spindle cell RMS occurring in young childhood and the so-called congenital RMS, which often displays rearrangements at 8q13 locus (NCOA2).

Congenital rhabdomyosarcoma, central precocious puberty, hemihypertrophy and hypophosphatemic rickets associated with epidermal nevus syndrome.

We describe a newborn girl with right-sided extended epidermal nevus, congenital rhabdomyosarcoma of the inguinal area at birth who had developed central precocious puberty, hemihypertrophy and vitamin D3-responsive hypophosphatemic rickets at the age of 14 months. Our patient demonstrates a much broader and polymorphic spectrum of organ systems involvement in epidermal nevus syndrome at a very early age of her life.

Differentiating between congenital rhabdomyosarcoma versus fibromatosis of the pediatric tongue.

Congenital rhabdomyosarcoma of the tongue is exceedingly rare. Fibromatosis of the tongue is also rare, and very difficult to distinguish from the spindle cell variant of rhabdomyosarcoma. Both appear histologically as spindle neoplasms replacing normal striated musculature of the tongue. The treatment protocol for the former has been developed by the Intergroup Rhabdomyosarcoma Studies (IRS) I-IV and requires surgery, radiation, and chemotherapy. For fibromatosis, complete surgical excision is usually adequate without additional therapy, although some cases of aggressive fibromatosis also require chemotherapy. With significant differences in appropriate treatment and prognosis, each entity must not be mistaken for the other. We review the differences in radiologic, histologic, and immunohistochemical (IHC) features of both entities.

Conditions masquerading as infantile haemangioma: Part 2.

Infantile haemangiomas are among the most common growths during infancy. Their rapid growth during infancy and vascularity can easily cause confusion with other, less common growths. Part I focussed on other vascular anomalies that can mimic infantile haemangiomas. Part II emphasizes benign growths and malignant conditions that can also cause diagnostic confusion.

[Soft tissue tumors in neonates]. / Les tumeurs mésenchymateuses du nouveau-né.

Soft tissue tumors account for approximately 25% of neonatal tumors and are most often benign (more than 2/3 of cases). Vascular tumors are the most frequent benign tumors and infantile hemangioma accounts for 32% of these tumors, affecting 1 out of 200 children at birth. Kaposiform hemangioendothelioma (KH) is a rare vascular tumor with locally aggressive behavior. More than 50% of KH are associated with the Kasabach-Merritt phenomenon, a condition characterized by thrombocytopenia and consumptive coagulopathy. Malignant soft tissue tumors are, after neuroblastoma, the second cause of cancer in neonates. Infantile fibrosarcoma (IF) is a rare tumor that most often affects the extremities of children aged 4 years or younger. A recurrent t(12;15) (p13;q25) rearrangement fusing the ETV6 gene with the NTRK3 neurotrophin-3 receptor gene has been identified in IF. Complete conservative surgical resection is usually curative. Chemotherapy is indicated when initial surgical removal cannot be accomplished without unacceptable morbidity. Prognosis of IF is excellent, with reported overall survival rates ranging from 80 to 100%. Neonatal rhabdomyosarcoma (RMS) is a rare tumor (0.5-1% of RMS). The primary tumor predominantly involves the limbs and the genitourinary tract. Treatment is based on age-adapted chemotherapy and surgery. Prognosis of RMS in children less than 1 year old appears to be comparable with that of older children.

Heart tumors in children and adults: clinicopathological study of 59 patients from a surgical center.

BACKGROUND: Heart tumors are rare lesions with variegated histological types. Their clinicopathological features could be more comprehensively categorized. METHODS: This is a 19-year retrospective study of 17 infants/toddlers (<2 years of age) and 42 patients aged between 14 and 79 years (mean = 51.5) in a surgical center. RESULTS: Congenital tumors (n = 17; 29%), including rhabdomyomas (n = 9), ventricular fibromas (n = 6), and hemangiomas (n = 1), required surgery mainly because of mass effect. Familial myofibromatosis was the only embolic congenital lesion. Acquired benign tumors (n = 28; 47%) included myxomas (n = 21), fibroelastomas (n = 3), myofibroblastic inflammatory tumors (n = 2), and lipomas (n = 2). Eight (29%) were revealed by systemic embolization. These benign noncongenital tumors were all treated by complete resection, except for an incompletely resected lipoma of the mitral valve. Postoperative arrhythmia (n = 1) and pericardial effusion (n = 3) were the only complications. Primary sarcomas (n = 8; 14%) were mostly vascular tumors (five of eight), and patients with high-grade tumors had a mean survival of 15 months (n = 5). Cardiac metastases (n = 6; 10%) were from carcinomas (n = 3) or sarcomas (n = 3); apart from a necrotic metastasis, all patients died (mean survival of 6 months). CONCLUSIONS: This study shows that, regardless of patients' age, heart tumors can be classified as: (a) congenital lesions, which are spontaneously nonprogressive or regressive lesions possibly requiring surgery mainly because of mass effect; (b) acquired benign tumors, which are lesions requiring surgery often because of embolization risk; and (c) primary and secondary malignant tumors, which are lesions with globally poor prognosis but with some indications for resection.

[Congenital botryoid rhabdomyosarcoma of the vulva]. / Rabdomiosarcoma botrioides congénito de vulva.

Rhabdomyosarcoma is the most frequent malignant soft tissue tumor in pediatric patients; however, the vulvar location and congenital appearance are exceptional. We present the case of a newborn girl with botryoid rhabdomyosarcoma of the vulva, treated with chemotherapy, conservative surgery and autologous transplant. Botryoid rhabdomyosarcoma is a variation of embryonal rhabdomyosarcoma that typically grows in mucosa-lined hollow organs, from where it can spread to the body surface. The treatment of botryoid rhabdomyosarcoma in the genito-urinary area is based on polychemotherapy, and it can be complemented with radiotherapy and conservative surgery if necessary, thus resulting in an excellent prognosis and few long-term functional sequelae.

Long-term evaluation of metabolic profile and bone mineral density after ileocystoplasty in children.

PURPOSE: We evaluated the long-term effects of ileocystoplasty on linear growth, serum electrolytes, acid-base profile and bone mineral density (BMD) in a group of neurologically intact children with a mean followup of 8.9 years. MATERIALS AND METHODS: Between 1988 and 1997, 9 girls and 16 boys with a mean age of 6 years (range 1 month to 14 years) underwent ileocystoplasty for etiologies other than myelomeningocele and neuropathic bladder. Indications for ileocystoplasty were small noncompliant bladder secondary to bladder exstrophy in 12 cases, bladder outlet obstruction in 10 and post-partial cystectomy for rhabdomyosarcoma in 3. All patients underwent clinical evaluation, supine height measurement, serum electrolytes, arterial blood gases and BMD measurement using a fan beam dual energy absorpitometry scan. BMD was measured at L1-L4 and corrected for age and sex. RESULTS: Followup ranged from 4 to 13 years (mean 8.9). Serum creatinine was normal in 20 of the 25 patients. All patients had normal supine height measurement with a mean of 45th (+/- 9) centile on growth charts. Serum electrolytes, calcium, phosphorus and arterial blood gases were normal in all patients. Mean BMD corrected for age and sex was 89 (+/- 10)%. BMD was normal in 17 of 25 (68%) patients. Mild reduction in bone density between 1 and 2 standard deviations below the age/sex mean was documented in 3 (12%) patients and the remaining 5 (20%) showed marked osteopenia of 2 or more standard deviations. Of the latter 5 patients 2 had increased serum creatinine, 1 had a history of radiotherapy for pelvic rhabdomyosarcoma and 2 had cloacal exstrophy and short bowel, all of which might have contributed to the osteopenia. CONCLUSIONS: Ileocystoplasty for children with normal kidney function is not associated with alterations in serum electrolytes or arterial blood gases in the long term. However, 32% of patients showed variable degrees of reduction in BMD. Although marked reduction in BMD was associated with cofactors, 12% of patients had evidence of mild osteopenia in absence of those cofactors. We recommend routine preoperative and longitudinal followup BMD measurements for children undergoing intestinal bladder augmentation.

Congenital and hereditary tumours in domestic animals. 2. pigs. A review.

The literature on congenital and hereditary tumours in pigs was reviewed. One hitherto unreported own case was added. Sporadic cases of congenital tumours included several types found in newborn piglets. Embryonic tumours (nephroblastoma, rhabdomyosarcoma) occurred either in newborn or in juvenile animals. Cardiac rhabdomyomas were provisionally classified as hamartomas. The hereditary tumours, melanomas and lymphomas, were reproducible by experimental matings. These tumours are particularly interesting as models to elucidate genetic and immunologic mechanisms of tumour diseases. Striking is the high degree of regression in porcine melanomas and the associated melanosis.