Pediatric Intraocular Immature Teratoma Associated With Sacrococcygeal Teratoma.

Intraocular teratomas are rare neoplasms with only three previously reported cases. We present the fourth case of intraocular teratoma and the second associated with sacrococcygeal teratoma. While the nature of the association between intraocular teratomas and sacrococcygeal teratomas is unclear, it suggests a need for careful ophthalmologic follow-up of infants with congenital sacrococcygeal teratomas.

Sarcoma de Ewing congênito: relato de um caso / Congenital Ewing's sarcoma: a case report

O sarcoma congênito da família Ewing é uma doença extremamente rara, que se manifesta através do surgimento de uma massa e sinais sistêmicos como dor e febre. Cerca de 70 a 80% dos casos ocorrem antes dos 20 anos de idade. Histologicamente se caracteriza pela presença de pequenas células arredondadas e azuis. Além disso, pode se manifestar em tecidos moles ou osso e em qualquer parte do corpo, sendo a forma congênita mais comumente encontrada nas extremidades. O diagnóstico é estabelecido através de exames de imagem, histopatologia e imuno-histoquímica. Esses tumores costumam ser agressivos e apresentar elevada mortalidade. Aqui, relatamos o caso de um recém-nascido que apresentou uma massa no membro superior esquerdo diagnosticada como sarcoma congênito da família Ewing por biópsia cutânea por punch e pela presença do marcador CD99 (AU)

Congenital Ewing's sarcoma is an extremely rare disease, manifested by the appearance of a mass and systemic signs such as pain and fever. About 70-80% of cases occur before 20 years of age. This condition is histologically characterized by the presence of small round blue cells and can manifest in bone or soft tissue, anywhere in the body, with the congenital form being the most commonly found in the extremities. The diagnosis is established by imaging, histopathology, and immunohistochemistry. These tumors tend to be aggressive and have high mortality rates. Here, we report the case of a newborn who presented a mass in the left upper limb diagnosed as congenital Ewing's sarcoma by punch skin biopsy and the presence of the CD99 marker (AU)

Congenital Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor: A Case Report and Review of the Literature.

Ewing's sarcoma (EWS) and peripheral primitive neuroectodermal tumor (pPNET) are small round cell malignancies that develop in soft tissue and bone. They very rarely affect newborns. A diagnosis of EWS/pPNET depends mainly on immunohistochemistry and molecular/genetic assays. Since these tumors are highly aggressive, patient prognosis is typically very poor, and treatment remains a challenge. Here, we report a 13-day-old newborn diagnosed with congenital EWS/pPNET and describe its treatment.

Congenital neurocristic tumor presenting as an isolated calvarial defect in an infant: case report.

In infants, the presence of a cranial defect may be due to a variety of traumatic, inflammatory, neoplastic, and congenital abnormalities. Differentiation between these possible etiologies is facilitated by clinical presentation, patient history, and physical examination. Congenital cutaneous neural crest-derived lesions are unlikely to be considered in a patient presenting with an asymptomatic cranial defect without overlying mass or skin pigmentation. The authors present an unusual case of a 2-month-old infant with an asymptomatic calvarial defect with normal overlying skin. Pathology of the excised tissue showed features consistent with a congenital neurocristic tumor: a pigmented, neural crest-derived hamartomatous tumor that typically presents as a melanotic skin lesion.

A rare case of congenital Ewing sarcoma/PNET of the scapula.

Ewing sarcoma (ES)/primitive neuroectodermal tumors (PNET) are known to occur at both central and peripheral locations, as well as at skeletal and extraskeletal sites. They most commonly occur in the first 2 decades of life. We report a rare case of congenital Ewing sarcoma/primitive neuroectodermal tumor arising from the scapula.

Congenital Ewing's Sarcoma in a neonate in Uyo--a case report.

Congenital Ewing's sarcoma is a very rare occurrence indeed with only one case involving the humerus and none involving the ulna that has been noted in the literature to our knowledge. It is one of those tumours that not only do they rarely occur in the neonatal period, but is also very uncommon in black people. We present a case report of Congenital Ewing's Sarcoma in a black female infant involving the ulna bone and surrounding soft tissues which was diagnosed by histology and immnohistochemistry.

Congenital mesenchymoma of tibia: case report and review of literature.

Fibrocartilaginous mesenchymoma is a rare bone tumor arising from long bones in children and adolescents. With only 21 cases reported in the literature, it is often not included in the differential diagnosis in patients with a bone tumor. Previously, the youngest case reported was in a 19-month-old boy, and a congenital variant had not been reported. We describe a case of congenital fibrocartilaginous mesenchymoma of the proximal tibia that presented shortly after birth. Biopsy of a suspected malignancy on imaging confirmed the diagnosis. The child was temporarily lost to follow up and presented again with genu varum and limb shortening but surprisingly, the tumor had completely resolved without surgical intervention.

Congenital osteolytic dural fibrosarcoma presenting as a scalp swelling.

An extremely rare case of congenital dural fibrosarcoma is reported in a 2 months old child who presented with scalp swelling since birth. CT scan revealed an osteolytic lesion compressing the underlying atrophic brain. Tumour was completely excised and duroplasty was done with a patch graft. Postoperative CSF leak was managed with aspirations and lumbar puncture.

Congenital Askin tumor with favorable outcome: case report and review of the literature.

Several disorders may present as cystic complex lesions of the fetal thorax, both with benign and malignant behavior. As a consequence, their detection may pose diagnostic, therapeutic, and parental counseling dilemmas. We describe a neonate with a congenital Askin tumor, diagnosed at the 37th week of gestation and treated after birth. Counseling and treatment challenges are discussed.

Bilateral synchronous tibial periosteal osteosarcoma with familial incidence.

Multifocal or multicentric osteosarcoma (OS) has been described as tumor occurrence at two or more sites in a patient without visceral metastasis. These may be synchronous (more than one lesion at presentation) or metachronous (new tumor developing after the initial treatment). The incidence of multifocal OS has ranged from 1.5 to 5.4% in large series, with the synchronous type being rarer. Similarly, periosteal OS is another rare subtype of surface OS and constitutes less than 2% of all OS. An 11-year-old female was diagnosed with bilateral synchronous tibial periosteal OS, which were confirmed by CT-guided biopsies. After neoadjuvant chemotherapy, the patient underwent a staged wide local resection of the tumors. The defect was reconstructed with a proximal tibial replacement on the left side and autologous bone grafting on the right side. The patient did well after surgery and is free of disease at 5.5 years of follow-up. However, her brother also developed a right tibial periosteal osteosarcoma 4 years after her index surgery. Genetic analysis of blood sample from both patients showed a similar missense mutation in at least one allele of TP53 gene (exon 8). To the best of our knowledge, a case of bilateral 'synchronous' periosteal OS with a familial incidence has not been reported before.

Congenital paraspinal Ewing sarcoma family of tumors with an epidural extension.

Congenital Ewing sarcoma family of tumors (ESFT) is a rare disease, and only 12 patients have been reported. Among those patients, only two had paraspinal tumors with an epidural extension. A 3-week-old infant boy presented with a huge dorsal mass. Whole-spine MRI scans showed a paraspinal mass with an epidural extension from the T11 to L2 levels, causing severe spinal cord compression. An initial operation was performed to confirm the pathological diagnosis. Twenty days after the first operation, the patient showed left lower-extremity weakness. A second operation was performed with a laminectomy from the T11 to L2 levels, and the epidural mass was radically resected. Pathologically, the tumor was confirmed as an ESFT. The patient received adjuvant chemotherapy. His neurological deficit recovered after the second surgery, and there was no tumor recurrence during 17 months of follow-up.

Developmental anterior dislocation of the radial head resulting from a congenital solitary osteochondroma of the proximal ulna in an infant.

A 4-month-old female infant was brought to our office by her parents, who had noticed a lump on the child's right elbow. Examination revealed a hard, painless lump in the antero-external region that was not reducible in flexion-extension or in pronation-supination. Neither palpation nor passive motion produced pain. Preoperative radiographs revealed a bony mass in the anteroexternal region of the proximal ulnar metaphysic (solitary osteochondroma), which was displacing the radial head into anteroexternal dislocation. No physiological bowing of the proximal metaphysis of the ulna was present. The infant underwent surgery at 6 months of age. No remains of the annular ligament were found. A complete resection of the tumour mass was performed, after which it was possible to reduce the radial head, together with the humeral condyle. Trans-radiocapitellar fixation was applied, with immobilization for 6 weeks. Subsequent radiological study revealed a congruent reduction of the radial head, with a progressive periosteal reaction of the posterior cortex of the ulna that evolved towards remodeling of the physiological bowing. Eight years after the surgery, the child remains asymptomatic, with complete range of motion and symmetric carrying angles. There were no relapses of osteochondroma, the deformity, or radioulnar synostosis.

Hereditary multiple exostoses of the hip.

PURPOSE: To assess the radiographic features of 36 hips with hereditary multiple exostoses (HME). METHODS: Hip parameters of 12 males and 6 females (36 hips) aged 2 to 28 years with HME were assessed using anteroposterior radiographs. The recorded features included the sites of osteochondromas, the femoral head/neck ratio, the Reimer's migration percentage, Sharp's acetabular angle, the centre edge angle, the femoral neck-shaft angle, and degenerative changes. RESULTS: 15 of the 18 patients were asymptomatic; 3 complained of pain (2 underwent excision or bone biopsy); no lesion was malignant. Osteochondromas were most commonly located in the femur followed by the ilium; only one was intra-articular. 32 hips had coxa valga; 26 had an abnormal Reimer's migration percentage; 17 had an abnormal Sharp's acetabular angle; 12 had an abnormal centre edge angle; 32 had an abnormal femoral neck-shaft angle; and 6 had degenerative changes. Acetabular and femoral dysplasia as well as subluxation are common in patients with HME. CONCLUSION: Borderline subluxated hips and those with marked coxa valga and/or acetabular dysplasia should be closely monitored to determine the need for surgery in the future. Subluxated hips should be operated on early, particularly in children and symptomatic adults.

Congenital osteofibrous dysplasia of the tibia, associated with pseudoarthrosis of the ipsilateral fibula.

We describe an otherwise normal male neonate who presented shortly after birth with rare congenital osteofibrous dysplasia of the right tibia associated with pseudoarthrosis of the ipsilateral fibula. The lesion was curetted, and the defect was packed with a fibular bone graft from the other leg. Histopathological examination was typical for osteofibrous dysplasia. The ipsilateral fibular pseudoarthrosis was observed with no active intervention. Seven years follow-up showed good functional recovery without recurrence of the lesion. The case is a new presentation of congenital osteofibrous dysplasia, and is presented to draw attention to this rare condition that must be considered in the differential diagnosis of congenital lesions of the tibia.

Periosteal chondroma at birth.

Periosteal chondroma is a slow-growing, cartilaginous, surface tumor that usually occurs in the second and third decades of life. The youngest reported age at diagnosis is 5 years. Marginal excision is the treatment of choice. We report a case of a periosteal chondroma noted at birth and treated conservatively. This report expands the age range of periosteal chondroma to include neonates and suggests a role for observation in its management.

Malignant infantile osteopetrosis initially presenting with neonatal hypocalcemia: case report.

Autosomal recessive "malignant" osteopetrosis is a rare congenital disorder relating to bone resorption abnormalities. It is believed to arise due to the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and, clinically, to the signs and symptoms of bone marrow failure. Impaired bone remodeling associated with dysregulated activity of osteoclasts for such a condition may typically result in bony narrowing of the cranial nerve foramina, which typically results in cranial nerve (especially optic nerve) compression. Abnormal remodeling of primary woven bone to lamellar bone results in "brittle" bone that is prone to fracture. Thus, fractures, visual impairment, and bone marrow failure are the classical features of this disease. We describe the case of a 23-day-old boy in whom neonatal hypocalcemia was present initially after birth. Malignant infantile osteopetrosis (MIO) was diagnosed for the patient at 4 months of age based on evidence of anemia, thrombocytopenia, leukoerythroblastosis, sclerotic bone, hepatosplenomegaly, and visual deficit from a bony encroachment by the cranial nerve foramina. Although only occasionally reported previously, MIO remains essentially unrecognized by clinicians as a cause of neonatal hypocalcemia, which often results in diagnostic confusion and delay. This is important in the context of curative hemopoietic stem cell transplantation where preservation of sight may depend upon early intervention.