Perinatal/Neonatal Case Presentation

Journal of Perinatology (2006) 26, 653–655. doi:10.1038/sj.jp.7211581

A newborn with multiple fractures as first presentation of infantile myofibromatosis

P S Buonuomo1, A Ruggiero1, G Zampino2, P Maurizi1, G Attina1 and R Riccardi1

  1. 1Division of Pediatric Oncology, Department of Paediatrics, Università Cattolica del Sacro Cuore, Policlinico 'A. Gemelli', Rome, Italy
  2. 2Department of Paediatrics, Università Cattolica del Sacro Cuore, Policlinico 'A. Gemelli', Rome, Italy

Correspondence: Dr A Ruggiero, Division of Pediatric Oncology, Department of Paediatrics, Università Cattolica del Sacro Cuore, Policlinico 'A. Gemelli,' Largo 'A. Gemelli', 8, 00168 Rome, Italy. E-mail: ruggiero@rm.unicatt.it

Received 9 May 2006; Accepted 12 July 2006.

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Abstract

Pathological fractures occur in infancy from a variety of causes, but are a rare condition during neonatal period. We describe the case of a male newborn with a metaphyseal fracture of femur and multiple lytic lesions, diagnosed as infantile myofibromatosis.

Keywords:

neonatal fractures, infantile myofibromatosis

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Introduction

Pathological fractures occur in bone that lacks normal biochemical and viscoelastic properties. A few conditions are involved in the aetiology of fractures during infancy.

Accurate and careful determination of underlying disease is crucial for appropriate care. A careful analysis of results of physical examination, history, and interpretation of radiographic elements is mandatory. In some conditions, it is helpful to relieve a constellation of other signs that can help the physicians to guide the diagnosis.

We present the case of a male newborn with a metaphyseal fracture of femur and multiple lytic lesions. Subsequent development of myofibroma in the right preauricular region suggested the diagnosis of infantile myofibromatosis, as then confirmed by the histopathological assessment.

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Case report

A 3-weeks-old male infant was admitted to our Department for multiple fractures.

Our propositus is a male newborn of unrelated parents born in Italy at 40 weeks gestation with a birth weight of 3.5 kg; both the pregnancy and the delivery were uneventful. He had no skin abnormalities. His parents did not describe trauma, and he was otherwise healthy. During the third week of life, the baby became distressed whenever he was handled and spontaneous arm movements diminished. He was in good general condition, but he screamed in pain when right leg was moved, so he was admitted to a Pediatric Hospital. Blood tests revealed normal morphology and count of blood cells, and the C-reactive protein was negative. Laboratory values for Ca, P, and parathyroid hormone (PTH) were normal. A roentgenogram revealed a lesion of the left femur. A fracture was initially suggested from the imaging study, so the baby was transferred to our Onco-hematologic Pediatric Division. Radiological examination of the bones showed multiple metaphyseal radiolucent lesions of the long bones and pathologic fracture of the left femur (Figure 1). A magnetic resonance imaging (MRI) of the spine showed complete collapse of L-5 vertebral body ('vertebra plana', see Figure 2).

Figure 1.
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Multiple metaphyseal radiolucent lesions of the long bones and pathologic fracture of the left femur.

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Figure 2.
Figure 2 - Unfortunately we are unable to provide accessible alternative text for this. If you require assistance to access this image, please contact help@nature.com or the author

Collapse of L-5 vertebral body ('vertebra plana').

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Urinary vanillyl mandelic and homovanillyc acid estimation, ultrasound of the abdomen, computed tomography (CT) scan of thorax and abdomen, and bone marrow aspirate were all normal. After 1 week, right periauricular mass begun to appear, and a surgical biopsy of the mass was planned. The histopathological evaluation showed the presence of fibroblasts and smooth muscle-like cells with abundant collagen; so a histopathological diagnosis of infantile myofibromatosis was made.

Pathological fractures occur in infancy from a variety of causes, but are a rare condition during neonatal period.

Birth trauma is a significant cause of neonatal morbidity and mortality. Although often associated with traumatic delivery, birth injuries often occur in normal spontaneous deliveries, even in the absence of any risk factors.1

Femoral fractures in nonambulating infants, particularly spiral fractures, are believed to be highly specific for inflicted injury.2

Congenital Syphilis is secondary to maternal and transplacental transmission of infection. Seventy-five percent of cases have bone abnormalities.3

The chondrodystrophies are diseases that affect the way in which cartilage is converted to bone. Of these, achondroplasia is the best known.4

Osteogenesis imperfecta5 or 'brittle-bone' disease is a defect in the production of collagen resulting in repeated fractures with minor trauma. The severity varies widely, with the neonatal type being the most severe.

Temporary brittle bone disease is a recently described phenotype in which newborn babies and infants are susceptible to fractures owing to a weakened skeletal system. Current research has shown that this condition is common with premature babies, twins, or breech babies with reduced fetal movements in the womb.6

Osteopenia or rickets of prematurity refers to the hypomineralized skeleton of the premature infant, compared with that of the normal fetal skeleton resulting from the in utero accretion of minerals. In growing low birth-weight (LBW) infants, it occurs almost without exception.7 This high incidence is not surprising considering that 80% of fetal skeletal mineralization takes place during the last trimester of pregnancy.

Neuroblastoma is an embryonal malignancy of the sympathetic nervous system arising from neuroblasts (pluripotent sympathetic cells). Neuroblastoma cells activate osteoclasts to form osteolytic lesions.8

Infantile myofibromatosis is a rare mesenchymal disorder characterized by the development of firm, discrete, flesh-colored to purple nodules in skin, muscle, bone, and/or subcutaneous tissues, ranging in size from a few millimeters to several centimeters. The tumors arise from myofibroblasts that are the precursor cells to both smooth muscle and fibroblasts. Three distinct classifications are now recognized based on the location and involvement of individual lesions: solitary myofibromatosis, congenital multiple myofibromatosis associated with multicentric lesions but without visceral involvement, and congenital generalized myofibromatosis with both cutaneous and visceral involvement.9 Disease limited to the soft tissues, muscle, and bone has a good prognosis, with expected spontaneous regression of nodules in 1 to 2 years; however, visceral involvement may be fatal generally within the first few months of life, secondary to obstruction of a vital organ, failure to thrive, or infection. Classically, these lesions are described in children younger than 2 years, with two-thirds present at birth.

Histologically, these tumors show characteristics of both smooth muscle and fibroblastic cell line. Most tumors present with a characteristic biphasic presentation of spindle-shaped cells surrounding a central zone of less-differentiated cells focally arranged in a hemangiopericytoma-like pattern. Surgical excision is sometimes required for obstructive or locally destructive tumors. Limited success has been achieved with radiation treatment, steroid injection, and chemotherapy.

Asymptomatic vertebral body collapse from spinal involvement with complete regression of lesions and dural involvement with and without adjacent skeletal involvement have also been described.10

The radiographic appearance of vertebra plana is well defined. There is initially a lytic vertebral body lesion without collapse. Subsequent vertebral compression occurs with partial or complete collapse of the vertebral body. The end plates remain intact, forming the coin- or wafer-shaped vertebra plana. As the growth plates remain intact, there can be subsequent total or nearly total reconstitution of vertebral height.

Pediatricians should be aware of this rare disease, and infantile myofibromatosis should be considered in the differential diagnosis of neonatal pathological fractures even if there are no other visible signs of clinical presentation such as skin lesions. Accurate and careful physical examination, history taking, and interpretation of radiographic elements are crucial for appropriate care.

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References

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