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Critical Situations
May 2000

Congenital Generalized Myofibromatosis in a Neonate

Arch Dermatol. 2000;136(5):597-600. doi:10.1001/archderm.136.5.597

A 1-day-old female neonate developed signs of sepsis, bowel obstruction, and respiratory distress. She was born to a 34-year-old, gravida 2, para 1 woman at 40 weeks' gestation. The pregnancy was uncomplicated. The neonate was delivered vaginally and had lightly meconium-stained amniotic fluid. She weighed 3260 g and had Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. The neonate was noted to have nodular lesions on the right neck and thighs, and several reddish purple macular lesions on the trunk and limbs (Figure 1). She had abdominal distention, but no hepatosplenomegaly or lymphadenopathy. Approximately 2 hours after delivery, the neonate developed respiratory distress. Radiographic studies revealed free air in the abdomen with a small-bowel perforation, multiple lytic lesions within the bones of the lower and upper extremities (Figure 2), and bilateral nodular and reticular lung densities on computed tomographic scan (Figure 3). Magnetic resonance imaging of the entire spine revealed multiple masses involving the paraspinal musculature as well as the right psoas muscle. The largest of the lesions was located in the right cervical paravertebral muscles; the brain was free of lesions. Echocardiographic findings, complete blood count, triglyceride levels, and TORCH (toxoplasmosis, other, rubella, cytomegalovirus, herpes simplex) titers were normal.

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