Isolated Protein C Deficiency in a Newborn.

BACKGROUND: Congenital protein C deficiency is a rare hereditary thrombophilia, neonatal purpura fulminans is the most serious form of this deficit. The purpose of this observation is two-fold. The first is the need to make an early diagnosis in order to improve the prognosis. The second, is to discuss the need. In case of extensive purpura fulminans in the neonatal period, the search for a deficiency in anticoagulant factor, in particular the dosage of protein C, in the newborn and in both parents. METHODS: The diagnosis is biological and is based on the quantitative determination of functionally active protein C. We use the Berichrom® Protein C assay on an automated coagulation analyzer from Siemens Healthcare Diagnostics, which allows the chromogenic determination of Protein C activity. RESULTS: We report an observation of cutaneous necrosis in a newborn having developed a purpura fulminans extensive secondary to a total congenital protein C deficiency. In front of this clinical picture, thrombophilia assessment is requested, revealing an isolated deficit in protein C < 1%. CONCLUSIONS: In the case of extensive purpura fulminans in the neonatal period, the search for a deficiency in anticoagulant factor, in particular the dosage of protein C, is essential in the newborn and in both parents.

Acquired and Isolated Deficiencies in Factor VII.

BACKGROUND: Acquired and isolated deficiencies in FVII are exceptional. They have mainly been reported during states of severe sepsis by the presence of proteases destroying the factor or neoplastic pathologies by the presence of an inhibitor. Consequently, very few cases have been published. METHODS AND RESULTS: We report two cases of isolated and acquired deficiency of factor VII due to the presence of inhibitors which were related to bacterial sepsis in the first patient and to squamous cell carcinoma in the second patient, diagnosed in the Hematology Laboratory of the CHU Ibn Rochd. CONCLUSIONS: Factor VII deficiency is a rare and poorly described deficiency that can be acquired or constitutional. The search for anti-factor VII antibodies by diluted thromboplastin time should be requested depending on the clinical context.

Xeroderma pigmentosum and acute myeloid leukemia: a case report.

BACKGROUND: Xeroderma pigmentosum is a rare inherited disease characterized by extreme hypersensitivity to ultraviolet rays and predisposing to cutaneous malignancies that can appear in childhood. These manifestations are often associated with ocular lesions and sometimes with neurological disorders. The association of xeroderma pigmentosum with internal neoplasms such as acute myeloblastic leukemia is not reported with great frequency, which confirms the rarity of this occurrence. CASE REPORT: A 26-year-old Moroccan women, xeroderma pigmentosum patient, was diagnosed with acute myeloblastic leukemia with a complex karyotype. Due to the adverse risk of the xeroderma pigmentosum association with acute myeloblastic leukemia and the profile of acute myeloblastic leukemia with complex karyotype and monosomy 7, which constitute factors of poor prognosis, as well as the absence of studies conceding the tolerance of the chemotherapy by patients suffering from xeroderma pigmentosum, our patient was put under low-dose cytarabine protocol with granulocyte colony-stimulating factor. Unfortunately, she died on the tenth day of chemotherapy by acute pulmonary edema of cardiogenic pace complicated by tamponade. CONCLUSION: According to reports, it is the second case showing association of xeroderma pigmentosum with acute myeloblastic leukemia. The management of these patients remains a challenge. Studies focusing on xeroderma pigmentosum patients developing hematological malignancies are necessary to better understand the most appropriate strategies and precautions for this specific case.

Acquired Hemophilia A: Three Cases and Review of the Literature.

BACKGROUND: Acquired hemophilia A (AHA) is an autoimmune disease caused by autoantibodies against coagulation factor VIII. It is a rare and potentially fatal and often underestimated pathology, mainly in the elderly person and for whom the rapidity of the diagnosis and the initiation of the background treatment are necessary. We reported three cases diagnosed in our hospital. METHODS AND RESULTS: First case: A 55-year-old man, without personal or familial hemorrhagic case history. Admitted to the hospital with anemic and hemorrhagic cutaneous syndromes. His treatment included Transfusion support, concentrate F VIIIa, and corticosteroids with good clinical evolution. Second case: An 82-year-old man, without case history, admitted with cutaneous mucosal hemorrhagic Syndrome with hemorrhage of the puncture sites. Good evolution with treatment based on NovoSeven, corticosteroid, and cyclophosphamide in addition to transfusion support. Third case: A 52-year-old man, was followed for 3 years for pemphigoid. He was hospitalized for surgical Treatment of an extensive and painful hematoma of the anterior aspect of the right leg following a fall and treated with corticosteroid and NovoSeven. CONCLUSIONS: Although rare, AHA must be diagnosed early, and may, at any time, commit to the vital prognosis by the appearance of serious hemorrhagic complications.

Congenital factor II deficiency: moroccan cases.

BACKGROUND: Clotting factor II, or prothrombin, is a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. Inherited factor II deficiency is an extremely rare autosomal recessive disorder affecting both genders: clinical bleeding can vary widely in homozygous individuals, and heterozygotes often remain clinically asymptomatic. This study highlights the rarity of inherited factor II deficiency and the importance of coagulation testing in the diagnosis of this condition. METHODS: We report four cases of factor II deficiency at our institution. RESULTS: At diagnosis, two patients were 3 days old, whereas the other two patients were 13 and 40 years of age. Three patients were female, and one was male. Symptoms of factor II deficiency were reported at referral in three patients; the deficiency was an incidental finding in the remaining case. The parents of all four patients were consanguineous (first degree). Factor II enzymatic activity was 1% in 3 cases and 5% in the incidental case. The treatment consisted of transfusion with fresh frozen plasma in all cases. CONCLUSIONS: The congenital deficiency of factor II is a rare inherited disorder. The diagnosis is mainly based on coagulation tests. However, the prognosis of this disease and access to medication are associated with the risk of occurrence of severe bleeding.