1/19. Neonatal lupus erythematosus.Neonatal lupus erythematosus (NLE) is a rare disease characterized by the transplacental passage from the mother to the fetus of autoantibodies, in particular anti-Ro(SS-A), anti-La(SS-B), or both. The majority of infants with NLE exhibit isolated congenital heart block, cutaneous lesions analogous to those of adult subacute cutaneous lupus erythematosus, or both. We report a case of NLE in a 3-month-old male infant, born to a clinically asymptomatic mother, presenting small, annular, erythematous plaques with sharp, hyperkeratotic borders and central clearing localized at the eyebrow region. Both the infant and the mother were positive for anti-Ro(SS-A).- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/19. Anesthetic management of a parturient with Ehlers Danlos syndrome type IV.PURPOSE: To describe the anesthetic management of a parturient with Ehlers Danlos syndrome (EDS) type IV. Clinical features: A 29-yr-old pregnant woman with EDS type IV was seen in the Obstetric anesthesia Pre-assessment Clinic at 30 weeks gestation. She had a history of vertebral artery dissection, resulting in a transient neurological deficit at 22 yr of age. She had a normal vaginal delivery with continuous epidural analgesia for the delivery of her first child at 27 yr of age, before the diagnosis of EDS was made. Recent fibroblast culture demonstrated the production of abnormal procollagen type III, which is pathognomonic for EDS type IV. The patient and obstetrician preferred a repeat vaginal birth with instrumental delivery in the second stage. analgesia for labour and delivery was provided with a continuous epidural infusion of ropivacaine and fentanyl. She delivered a healthy female infant with the use of outlet forceps, without complications. CONCLUSION: A pre-delivery, multidisciplinary, individualized management plan is required in patients with EDS, a rare disease with variable clinical features. In the case described, continuous epidural analgesia was effective and associated with excellent maternal and fetal outcomes.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/19. Intrahepatic cholestasis of pregnancy.Intrahepatic cholestasis of pregnancy (ICP) is a rare disease occurring mainly during the last trimester of pregnancy. pruritus, often accompanied by excoriation of the skin but without other skin lesions, and elevated concentrations of bile acids are characteristic for this disorder. We present a 30-year-old woman with pruritus, elevated bile acids, ASAT and ALAT in the 22nd week of pregnancy. Treatment with ursodeoxycholic acid resulted in complete disappearance of the pruritus and normalisation of the bile acids, ASAT and ALAT. A healthy child was born at term. In the differential diagnosis of liver function abnormalities during pregnancy, ICP should be included. ICP responds very well to treatment with ursodeoxycholic acid, with no detrimental effects for mother and child.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/19. Congenital tuberculous lymphadenitis in a preterm infant in greece.Congenital tuberculosis is a rare disease. The risk of tuberculosis in pregnancy has increased owing to recent changes in the epidemiology of the disease, which have led to an increased risk of congenital tuberculosis. We present a case report on a 6-d-old premature infant with tuberculous lymphadenitis. Smears of the lymphatic tissue contained acid-fast bacilli, and cultures were positive for mycobacterium tuberculosis hominis. polymerase chain reaction (PCR) assay of the suppurative material of the lymph node was positive for M. tuberculosis. Twenty days before onset of labour, the mother developed miliary tuberculosis and meningitis. Conclusion: The atypical clinical manifestations of congenital tuberculosis and the devastating consequences in the absence of early therapy signify the importance of early diagnosis and treatment during the neonatal period. PCR assay is a useful technique for prompt diagnosis in neonates with clinically suspected infection.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/19. fabry disease in a renal allograft.incidental findings of rare diseases in organ donors can be seen in allograft biopsies that may have profound implications for the recipient and for the donor and their family. fabry disease is an X-linked recessive lipid storage disease with cardiovascular, renal and lenticular abnormalities. Phenotypic expression in female heterozygote carriers depends on lyonization. Minimal data exists on outcomes of transplanted kidneys from carriers of fabry disease. We report a patient with ESRD secondary to focal sclerosis who received a HLA-identical transplant from her sister whose pretransplant donor work up was completely negative. Post-transplant, while pregnant, the recipient developed increasing proteinuria and was biopsied. The biopsy showed extensive myelin figures consistent with fabry disease. Subsequent genetic, enzymatic and pedigree analysis confirmed the diagnosis in the recipient, the donor and the donor's son. Two years post-transplant the patient continues to have non-nephrotic range proteinuria with normal serum creatinine.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/19. Orthotopic liver transplantation for acute liver failure resulting from "acute fatty liver of pregnancy".Steatosis of the liver, demonstrating itself as the acute liver failure during the third trimester of pregnancy (Acute fatty liver of pregnancy--AFLP) is a rarely observed liver pathology. Herewith we describe the case of a 19-years old pregnant patient with this rare disease. The authors present the clinical course, dynamics, diagnostics, and outcome of treatment in this unique case. In this patient the ultimate treatment chosen was the liver transplantation. The opinions, concerning liver transplantation in AFLP (expressed in the world literature) are somewhat controversial. This paper presents the first case of AFLP treatment with orthotopic liver transplantation (OLTx) in poland.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/19. Conservative management of pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by renal angiomyolipomas in pregnancy.Both pulmonary lymphangioleiomyomatosis and tuberous sclerosis are rare diseases. The optimal management in pregnancy is unclear. A primigravida with pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by worsening renal function secondary to angiomyolipomas was managed conservatively. Favorable maternal and neonatal outcomes were achieved. Pulmonary lymphangioleiomyomatosis is a consideration in tuberous sclerosis patients with respiratory symptoms. tuberous sclerosis patients with pulmonary lymphangioleiomyomatosis require cautious and calculated expectant management in an effort to avoid adverse outcomes.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/19. rosacea fulminans in pregnancy: case report and review of the literature.rosacea fulminans is a rare disease of unknown cause which occurs exclusively in women years after adolescence. Although the etiology is unknown, immunologic, hormonal, and vascular factors have been suggested. When rosacea fulminans occurs during pregnancy and in women taking oral contraceptive pills, hormonal factors may be a trigger. rosacea fulminans is localized specifically to the face, with the chin, cheeks, and forehead bearing the brunt of the attack. A dull red, cyanotic erythema of all involved facial areas, extending beyond the inflammatory nodules, is typical.We present the case of a 31-year-old pregnant woman who had rosacea fulminans during the first trimester of her second pregnancy. She had multiple erythematous papules, pustules, nodules, and purulent discharging cysts on the face. Conventional therapeutic approaches with systemic corticosteroids were associated with clear improvement within 2 months, and subsequently only 0.75% metronidazole topical cream was used during the second trimester.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/19. dermatomyositis and pregnancy. Case report and review of the literature.dermatomyositis is a rare disease complicating pregnancy. We treated a patient in whom two pregnancies were complicated by dermatomyositis. In the first of the two gestations, a mild form of the disease arose in the last trimester. In the second gestation, the disease was inactive following treatment with 0.3 mg/kg/day prednisolone. Both the mother and two children have since been doing well.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/19. Lymphocytic hypophysitis. The clinical spectrum of the disorder and evidence for an autoimmune pathogenesis.Lymphocytic hypophysitis, a rare disease hitherto restricted to women, usually presents with symptoms of hypopituitarism in relationship to pregnancy. Two patients who developed pituitary insufficiency from lymphocytic hypophysitis are described. In the first, visual deterioration due to chiasmal compression from hypophysitis arising in ectopic pituitary tissue responded to bromocriptine and corticosteroids. In the second, an insidious onset of hypopituitarism occurred over 5 years in an elderly male. Combined HLA and complement typing confirmed that both patients shared MHC class I, II and III alleles. These class II and III alleles have been described in association with Hashimoto's thyroiditis and insulin-dependent diabetes mellitus (IDDM), both of which may be associated with antipituitary antibodies. The features of these two cases extend the known clinical and pathological spectrum of this disease and, through identifying a common immunogenetic background, provide a possible link between the previous associations of this disorder and autoimmune thyroid disease and IDDM.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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