A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2).

BACKGROUND: Osteogenesis imperfect (OI) type II is a genetic disorder of bone characterized by bone fragility, multiple fractures, severe bowing and shortening of long bones, and perinatal death due to respiratory insufficiency. It is mainly caused by mutations in the COL1A1 or COL1A2 genes, inherited in an autosomal dominant manner. CASE REPORT: A fetal form of this disorder that included brachydactyly, macrocephaly, frontal bossing, soft calvarium, saddle nose, micrognathia, low set ears, and narrow thoracic cavity is described. A postmortem skeletal survey revealed multiple fractures, unossified skull, and long crumpled bones. The fetal karyotype revealed a balanced translocation t(1;20)(p13;p11.2). DNA sequencing detected a c.3065G > T transversion in exon 42 of the COL1A1 gene, a mutation associated with OI type II. CONCLUSION: Although the balanced translocation t(1:20)(p13;p11.2) appears to be incidental in our case, identification of the specific mutation and translocation is important for estimation of genetic risk for another afflicted child.

Primary Epithelioid Angiosarcoma of the Uterus: A Rare Tumor with Very Aggressive Behavior.

Angiosarcoma is a high-grade vascular tumor arising from endothelial cells of blood vessels. It represents less than 1% of the mesenchymal tumors. Uterine angiosarcoma is an extremely rare tumor with less than 25 cases reported in the literature. It usually presents in postmenopausal women as uterine mass and rarely can arise in a leiomyoma. It is included in the group of tumors of aggressive behavior and poor prognosis. Herein, we present a case of primary uterine angiosarcoma in a 56-year-old female patient with a history of fibroids presenting with pelvic pain and weight loss. Abdominal CT scan showed a large uterine mass and enlarged pelvic lymph nodes. Total abdominal hysterectomy with bilateral salpingo-oophorectomy was performed, and on histopathologic examination, it was found to be primary epithelioid angiosarcoma of the uterus. Immunohistochemical stains for CD31, keratin MAK-6, and keratin AE1/AE3 confirmed the diagnosis. In conclusion, uterine angiosarcoma should be suspected in any rapidly growing hemorrhagic uterine mass, and appropriate sampling and immunohistochemical stains should be considered.

A rare case of peliosis hepatis in primary immune deficiency.

Peliosis hepatis is a rare condition characterized by blackish-blue blood-filled cavities in hepatic parenchyma caused by dilatation of hepatic sinusoids. Peliosis hepatis has been described in secondary immunodeficiencies and certain medications. We present the first case of peliosis hepatis in a patient with a primary immunodeficiency, common variable immunodeficiency. A 44-year-old African-American male presented with gastrointestinal bleeding and elevated liver function tests. His medical history included common variable immunodeficiency and chronic kidney disease. The patient had jaundice, regenerative nodules on liver pathology, and low immunoglobulin levels. A magnetic resonance imaging of the abdomen with contrast revealed a cirrhotic liver, a 5 × 3 cm lesion, and poorly defined nodules which had decreased enhancement. A computed tomography-guided liver biopsy revealed peliosis hepatis, focal nodular hyperplasia, and fibrosis. No other etiology of his liver disease was found. The etiology of peliosis hepatis in patients with primary immunodeficiencies remains unclear. Additional studies are needed to understand the underlying mechanisms.

Lipoprotein Glomerulopathy in a Hispanic Female: A Case Report and Literature Review.

RATIONALE: Lipoprotein glomerulopathy (LPG) is a rare renal disorder that features glomerular capillary lipoprotein thrombi, proteinuria, and progressive renal failure. Although most reported cases describe involvement in Asian patients, occurrence in Caucasian and other ethnicities has also been reported. PRESENTING CONCERN: A 28-year-old Hispanic female with a past medical history of hypertension, high cholesterol, gastritis, and a strong family history of renal disease presented with abdominal pain. On admission, her blood pressure was elevated. A computed tomography scan was unremarkable. Her laboratory studies showed proteinuria, high creatinine level, and an abnormal lipid profile. DIAGNOSIS: The kidney biopsy showed glomerular capillary lipoprotein thrombi that stained positively for Oil-Red-O, confirming the lipid nature of the material consistent with LPG. INTERVENTION: After stabilizing her blood pressure, the patient was started on fenofibrate to treat her high cholesterol and improve her renal function. OUTCOME: Her lipid profile and renal function were initially improved. However, after one year of treatment, her renal function started to decline and the patient was referred to a transplant center for further management. NOVEL FINDING: To the best of our knowledge, this the first reported incidence of LPG in a Hispanic female.

JUSTIFICATION: La glomérulopathie lipoprotéique (GLP) est une pathologie rénale rare caractérisée par des thrombus au niveau des capillaires glomérulaires, une protéinurie et une insuffisance rénale progressive. Bien que la plupart des cas rapportés concernent des patients d'origine asiatique, quelques cas ont été observés chez des patients caucasiens ou d'origines ethniques autres. PRÉSENTATION DU CAS: Une patiente de 28 ans d'origine hispanique a consulté à l'urgence pour un tableau de douleurs abdominales. Elle présentait des antécédents d'hypertension, d'hypercholestérolémie et de gastrite, en plus d'importants antécédents familiaux de néphropathies. À son admission, sa pression artérielle était élevée. La tomodensitométrie était normale. Les résultats de laboratoire indiquaient une protéinurie, un taux élevé de créatinine et un profil lipidique anormal. DIAGNOSTIC: La biopsie rénale a montré des thrombus lipoprotéiniques au niveau des capillaires glomérulaires. Leur nature lipidique, cohérente avec une GLP, a été confirmée par la coloration Oil-Red-O. INTERVENTION: Après stabilisation de la pression artérielle, un traitement au fénofibrate a été initié pour abaisser le taux de cholestérol et améliorer la fonction rénale. RÉSULTATS: Le profil lipidique et la fonction rénale de la patiente se sont améliorés initialement. Cependant, après un an de traitement, la fonction rénale a commencé à décliner et la patiente a été aiguillée vers un centre de transplantation pour prise en charge. CONCLUSION: À notre connaissance, ce cas constitue la première incidence d'une GLP chez une femme d'origine hispanique.

A Case of Sarcomatoid Renal Cell Carcinoma With Osseous Metaplasia and Papillary Renal Cell Carcinoma Metastasis.

Sarcomatoid renal cell carcinoma is an uncommon and aggressive renal tumor with rapid disease progression. A median survival time is only 4-9 months after diagnosis. Osteogenic differentiation is a rare feature of the tumor. Here, we present a case of renal cell carcinoma with sarcomatoid feature and osteoid differentiation, and papillary renal cell carcinoma metastasis in a 58 year-old African-American male. This is the first reported renal cell carcinoma case with the combination of sarcomatoid feature, osteoid differentiation, and papillary renal cell carcinoma metastasis.

Radiation-Induced Sarcoma After Heterotopic Ossification Prophylaxis: A Case Report.

CASE: Heterotopic ossification (HO) is a pathological formation of bone in nonosseous tissue and is a common complication of orthopaedic procedures. Radiotherapy is often used to prevent HO despite the small risk of secondary malignancy. Here, we report a case of a patient who developed a periprosthetic, radiation-induced sarcoma after delivery of a single fraction of 7 Gy for HO prophylaxis. This sarcoma was found to lie entirely within the treatment field and occurred within 5 years of radiation. CONCLUSION: Appropriate counseling regarding radiation-induced sarcoma formation should be provided to patients considering radiotherapy for this HO prophylaxis.

Granulomas within renal epithelial neoplasms in patients with sarcoidosis: A causal association?

Sarcoidosis is a chronic granulomatous disease that can involve virtually every organ system, but most commonly presents as lung, skin, or lymph node disease. Although kidney involvement is usually clinically silent, granulomatous interstitial nephritis - the hallmark of renal sarcoidosis - can lead to functional impairment and organ failure. Also, recent studies have suggested an association between sarcoidosis and an increased risk of developing kidney tumors. While a sarcoid-like granulomatous reaction (SLGR) to renal epithelial neoplasms in patients without sarcoidosis has been well documented, direct involvement of the tumor parenchyma by sarcoidosis has been reported only rarely. Here we present two renal epithelial tumors directly involved by sarcoidosis with a common pattern of distribution of non-caseating granulomas.