RESUMEN
(1) Background: Congenital erythropoietic porphyria (CEP), named Günther's disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges from extremely severe perinatal onset, with life-threatening hemolytic anaemia, to mild or moderate cutaneous involvement in late-onset forms. This work reviewed the perinatal CEP cases recorded in France in order to analyse their various presentations and evolution. (2) Methods: Clinical and biological data were retrospectively collected through medical and published records. (3) Results: Twenty CEP cases, who presented with severe manifestations during perinatal period, were classified according to the main course of the disease: antenatal features, acute neonatal distress and postnatal diagnosis. Antenatal symptoms (seven patients) were mainly hydrops fetalis, hepatosplenomegaly, anemia, and malformations. Six of them died prematurely. Five babies showed acute neonatal distress, associated with severe anemia, thrombocytopenia, hepatosplenomegaly, liver dysfunction, and marked photosensitivity leading to diagnosis. The only two neonates who survived underwent hematopoietic stem cell transplantation (HSCT). Common features in post-natal diagnosis (eight patients) included hemolytic anemia, splenomegaly, skin sensitivity, and discoloured teeth and urine. All patients underwent HSCT, with success for six of them, but with fatal complications in two patients. The frequency of the missense variant named C73R is striking in antenatal and neonatal presentations, with 9/12 and 7/8 independent alleles, respectively. (4) Conclusions: The most recent cases in this series are remarkable, as they had a less fatal outcome than expected. Regular transfusions from the intrauterine period and early access to HSCT are the main objectives.
RESUMEN
BACKGROUND: Congenital genital tract outflow obstruction may occur at different levels and with different clinical presentations. Winter syndrome was first described in 1968 as an association of renal, genital and middle ear anomalies. This syndrome is characterized by autosomal recessive transmission, unilateral or bilateral renal hypoplasia, distal vaginal atresia, and moderate to severe conductive hearing loss with malformation of the ossicles. The diagnosis is usually made when symptoms of obstruction are obvious. It presents most commonly with primary amenorrhea in a girl with a normal XX genotype, ovarian and hormone function; and cyclical abdominal pain. Ultrasound confirm the physical examination, revealing the presence of a normal uterus and cervix, normal ovaries and fallopian tubes, and a large hematocolpos. CASE PRESENTATION: This case reports Winter syndrome in a 14-year-old girl which vaginal atresia was managed by a trans perineal vaginal pull through. CONCLUSIONS: Winter syndrome is a rare congenital condition whose clinical picture is that of an adolescent girl with primary amenorrhea and cyclic pelvic pain due to vaginal atresia, varying degrees of renal dysgenesis and deafness due to malformation of the ossicles of the middle ear. Diagnosis is based on clinical examination and imaging. Magnetic resonance imaging allows assessing the importance of atresia and thus guiding surgical management. The goals of surgical intervention are to provide relief from pain, ensure normal sexual intercourse and to preserve fertility. A thorough knowledge of embryology, pre-operative imaging with MRI and clinical examination is essential to plan an appropriate surgical management.
Asunto(s)
Trompas Uterinas/anomalías , Anomalías Urogenitales/diagnóstico por imagen , Útero/diagnóstico por imagen , Vagina/anomalías , Anomalías Múltiples/diagnóstico por imagen , Adolescente , Amenorrea/etiología , Trompas Uterinas/cirugía , Femenino , Humanos , Dolor Pélvico , Embarazo , Ultrasonografía , Vagina/diagnóstico por imagen , Vagina/cirugíaRESUMEN
Caudal regression syndrome is a rare malformative syndrome associated, to varying degrees, with agenesis of sacral and coccygeal vertebrae, lower limb shortening and gastrointestinal, genitourinary and cardiovascular abnormalities. Its relationship with gestational diabetes is well established, but its exact cause is poorly established. We here report a rare case of caudal regression syndrome in a 8-month old infant of diabetic mother with polymalformative syndrome and chronic constipation.