Clinical History: A 19-week male fetus of a 36-year old G7P4 mother was found by ultrasound to have intrabdominal "cysts" and oligo-anhydramnios. At 15 weeks of pregnancy, by ultrasound examination, two intraabdominal cysts measuring 1.1x0.7x0.4 cm and 1.4x1.0x1.0 cm were noted. At 19 week gestation, the ultrasound was performed again showing anhydromaio, ascites, a normal appearing bladder, and multiple cystic structures in the abdomen most likely consistent with dilation of bowel (Figure 1A, B). The mother was consulted and opted to proceed with KCL injection and induction of labor. The nonviable fetus was delivered at 19 5/7 week gestation. Rhogam was administrated since the mother is Rh negative.

Presented at CAP 2012 (College of American Pathologists) conference

Patient:

Chief Complaint: A full term, newborn girl developed respiratory distress shortly after birth.

Introduction:

The patient was a 64-year-old male presented with a 2 day history of increasing fevers and altered mental status. He underwent orthotopic liver transplant for cryptogenic cirrhosis, probably secondary to non-alcoholic steatohepatitis, 45 days before. The head and neck imaging showed pancytopenia with WBC 0.6 x 109 /L., hemoglobin 6.8 g/dl and platelet 29 x 109 /L.

Neurofibromatosis type 1 (NF-1) is a multisystem neurocutaneous disorder resulting from mutations in the NF-1 gene on chromosome 17 (q11.2). Mutations in NF-1 result in deficient activity of the tumor suppresor protein neurofibromin, allowing for uncontrolled constitutive activity of the proliferative Raspathway in several neural cell types, including neurons, oligodendrocytes, astrocytes and Schawnn cells. Half of NF-1 cases are inherited in autosomal dominant fashion, while half develop sporadically. The syndrome has 100% penetrance but highly variable expressivity. The prevalence of this syndrome is 1/3,000, making it common enough to warrant YOU, the physician, taking a moment to learn how to recognize and manage it.