Occipital Scalp Nodules in a Neonate

Perinatal Neurofibromatosis: Two Case Reports and Review of the Literature

“…3 Perinatal NF-1 may present clinically in extraordinary ways: congenital stridor resulting from a laryngeal tumor 11,36 ; airway obstruction from tracheal compression 14,22 ; as part of a ''congenital neurocristopathy'' occurring together with neuroblastoma, Schwannoma, and plexiform neurofibroma 6,10,12,13,15,22,28 (Fig. 2); congenital buphthalmos, proptosis, and glaucoma secondary to orbital NFA 17,18,20,22,26,27,30,33,35 ; progressive respiratory compromise resulting from rapidly growing NFAs in the tongue, oral cavity, neck 14,19,22,26 ; a vascular malformation 34 ; fetal hydrops following compression of neck vessels or vena cava by tumor. 5,6,28,37 Over a third of patients in the review had the generalized form of the disease, ''congenital disseminated NF'' (Table 1).…”

“…When this unique condition occurs in fetuses and neonates, it is correlated with a high mortality. 5,6,10,12,14,19,22,24,26,28,32,37 In addition to NFAs, Schwann cell tumors and neuroblastoma involving the orbit, neck, posterior mediastinum, adrenals retroperitoneum, or sympathetic ganglia may occur as well 6,22,28 (Fig. 2).…”

“…39 Initial skin findings in the newborn with NF-1 may consist only of a few café au lait macules, which increase in number as the child grows older. 1,3,26 The macules show minimal histological changes consisting of increased amounts of melanin in both melanocytes and keratinocytes. Multiple subcutaneous PNFA nodules may suggest the ''blueberry muffin baby'' of stage 4 neuroblastoma.…”

“…Surgical intervention for head and neck NFAs is required when NFA growth impinges on a vital structure or when cosmetic disfigurement is a problem. 26,45 However, occasionally the extent of the tumor makes radical surgery impossible, whereas in other instances, surgery may be lifesaving. 26,36,46 Pregnancies in patients with NF-1 are correlated with an increased rate of complications such as intrauterine growth retardation, preterm labor, cesarean section, and stillbirth.…”

“…1,5,6, Congenital generalized (disseminated) NF, where there is widespread disease, is associated with a very high mortality. 5,6,10,14,19,22,24,26,28,32,37 MATERIALS AND METHODS The purpose of this review is to show that when NF-1 occurs in the perinatal period, it is associated with significant sequelae and mortality. A 66-year (1942 to 2008) retrospective review of 7 fetuses and 29 neonates with NF-1 was performed.…”