Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome.

We describe an infant prenatally diagnosed with hydrops fetalis ultimately found to have Noonan syndrome (NS). Prior to genetic confirmation of diagnosis, lung biopsy was performed which revealed widespread pulmonary interstitial glycogenosis (PIG), abnormal alveolarization, and mild inflammation. Although genetic alterations have been identified in NS, the mutations are heterogeneous and the diagnosis remains one of clinical suspicion. The combination of PIG and NS has not yet been documented in the literature. While the underlying pathophysiologic mechanism of PIG is unclear, we suggest that the mitogen-activated protein kinase signal transduction pathway members (PTPN11, KRAS, SOS1, RAF1, SHOC2, NRAS) involved in cellular growth factor signaling, which are affected in NS, can provide clues. In addition, this case demonstrates that empiric corticosteroids can be considered in complicated cases since biopsy did reveal an inflammatory component, not typically noted in PIG.

Detection of elemental mercury in abdominal wall soft tissue.

CASE REPORT: A 19-year-old male with an unremarkable medical history presented with his father, who requested an evaluation of a pathology specimen from a reported "lump" under the skin in the middle of the son's lower abdomen. The lump had been excised by a surgeon approximately 3 months prior, per parental request. Upon gross inspection, the specimen appeared to contain small metallic droplets. The patient denied self-injection of any metals, including mercury, despite the results of a 24-hour urine heavy-metal screen (without chelation) that revealed an elevated concentration of mercury (87.6 microg/g creatinine; reference range for nonexposed adults: <4 microg/g creatinine). Confirmatory analysis of the tissue sample included gross and microscopic examination, electron microscopy using secondary and backscattered electron imaging modes, and energy dispersive x-ray spectrum analysis of isolated tissue particles. Grossly, the tissue had small silver spherules suggestive of elemental mercury; these droplets were identified histologically with associated foreign body reaction. Numerous smooth, round-to-oval particles scattered randomly throughout the tissue were identified ultrastructurally, which produced an x-ray energy spectrum corresponding to mercury. DISCUSSION: Elemental mercury is liquid at room temperature and may be injected into the body for recreational, psychiatric, and other purposes. Isolated cases of mercury injection following accidents with broken thermometers have been reported, as well as cases of elevated metallothionein concentration following human gingival amalgam tattoos. CONCLUSION: In cases of surreptitious injection, histology and ultrastructural evidence may be used to confirm the presence of mercury.

Orbital desmoid tumor in a pediatric patient.

A 3-year-old girl with desmoid tumor of the right orbit initially presented with a 4-month history of unilateral ptosis and was subsequentially found to have fullness of the right upper eyelid. Computed tomography of the orbit revealed a soft tissue density in the superolateral quadrant of the right orbit. Histopathology from a biopsy revealed a desmoid tumor with positive margins. The patient subsequently underwent compete excision of the tumor and is presently doing well.