A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.

We report a series of four unrelated adults with Smith-Magenis syndrome (SMS) and concomitant features of Birt-Hogg-Dubé (BHD) syndrome based upon haploinsufficiency for FLCN and characteristic renal cell carcinomas and/or evidence of cutaneous fibrofolliculomas. Three of the cases constitute the first known association of histopathologically verified characteristic BHD-associated renal tumors in adults with SMS; the fourth was identified to have histologically confirmed skin fibrofolliculomas. Molecular analysis documented second-hit FLCN mutations in two of the three cases with confirmed BHD renal pathology. These cases suggest the need to expand management recommendations for SMS to include kidney cancer surveillance starting at 20 years of age, as per the screening recommendations for BHD syndrome.

Occult Massive Visceral Fat Necrosis Following Therapeutic Hypothermia for Neonatal Encephalopathy.

Therapeutic hypothermia (head or whole-body cooling) improves survival and neurodevelopmental outcome in term newborns with moderate-to-severe encephalopathy. Hypothermia treatment is well tolerated; the most common side effect is thrombocytopenia. In about 1% of infants, focal subcutaneous fat necrosis has been reported. We describe a case of clinically unsuspected massive visceral fat necrosis in a term infant with Apgar score 0 at 1 min ("resuscitated apparently stillborn" infant) who was treated with therapeutic hypothermia for 72 h and expired on the 25th day of life following a neonatal course complicated by severe encephalopathy, pulmonary artery hypertension, persistent thrombocytopenia, hypoglycemia, and severe basal ganglia-thalamic abnormalities on magnetic resonance imaging. Postmortem examination revealed extensive visceral (brown) fat necrosis, involving thoracic, abdominal, and retroperitoneal adipose tissue, with distinctive sparing of the subcutaneous (white) fat. The fulminant-yet clinically occult-visceral fat necrosis seen in this case suggests that (lesser degrees of) fat necrosis may go unrecognized in hypoxic-ischemic newborns, especially in those treated with hypothermia, and underscores the importance of close monitoring of encephalopathic newborns both in the short and long terms for complications of fat necrosis (hypercalcemia and nephrocalcinosis).

Compressive spinal epidural mass caused by Propionibacterium acnes.

BACKGROUND CONTEXT: Propionibacterium acnes is a gram-positive and facultative anaerobe bacillus that is found within sebaceous follicles of the human skin and recognized as a cause of infections after spinal surgery. To our knowledge, there has been no previously reported case of symptomatic compressive chronic inflammatory epidural mass caused by P. acnes in a patient with no prior spinal procedures. PURPOSE: This study aimed to describe a case of primary spinal infection by P. acnes. STUDY DESIGN: This study is a case report of a condition not previously described in the literature. METHODS: We present the history, physical examination, laboratory, radiographic, and histopathologic findings of a chronic inflammatory epidural mass caused by P. acnes in an immunocompetent adult male with no history of spinal surgery. RESULTS: A 51-year-old man presented to our clinic with sudden onset bilateral lower extremity weakness, inability to ambulate, and urinary retention. His past clinical history was remarkable only for hernia and left knee surgery but no spinal surgery. A year earlier, he had an infected draining abscess of the right axilla that was successfully managed medically. At presentation, his serum erythrocyte sedimentation rate and C-reactive protein were moderately elevated. Pan-spine magnetic resonance imaging was notable for a circumferential epidural mass from C5 to T6. He underwent emergent decompression; the mass was removed and sent for culture and pathologic evaluation. Cultures from all three specimens collected during surgery grew P. acnes, and the patient was successfully managed on intravenous ceftriaxone, while pathology revealed a chronic inflammatory reactive process. CONCLUSIONS: This is the first reported case of a primary spinal mass with chronic inflammatory features caused by P. acnes. In cases of epidural mass of unknown origin, both pathologic specimens and cultures should be obtained as slow-growing organisms may mimic oncologic processes.