RESUMEN
Hereditary orotic aciduria (HOA) is a very rare inborn error of pyrimidine metabolism. It results from a defect of the uridine-5-monophosphate synthase (UMPS) gene. To date, only about twenty patients have been described. We report a case of HOA with a novel variant in the UMPS gene. A 17-year-old Emirati girl was born to first-cousin parents. During the first year, she had recurrent, severe infections including disseminated varicella. After evaluation for immunodeficiency, an impression of immunodeficiency of unknown etiology was presumed. Frequent episodes of pancytopenia were also noted. Bone marrow biopsy showed trilineage megaloblastoid maturation with dysplastic changes that were refractory to hematinic therapy. Also, she was noted to have failure to thrive, developmental delay and epilepsy. She was referred to the Genetics clinic where whole-exome sequencing (WES) was done and showed a novel homozygous variant in the UMPS gene confirming a diagnosis of HOA. She was started on uridine triacetate after which she showed clinical, hematologic and biochemical improvement. Although extremely rare, hereditary orotic aciduria should be suspected in any child with megaloblastic bone marrow, immunodeficiency or when developmental delay and anemia coexist.
Asunto(s)
Fallo Renal Crónico/cirugía , Trasplante de Riñón/efectos adversos , Linfadenopatía/etiología , Metástasis Linfática/diagnóstico , Sarcoma de Kaposi/diagnóstico , Biopsia , Niño , Diagnóstico Diferencial , Rechazo de Injerto/inmunología , Rechazo de Injerto/prevención & control , Humanos , Inmunosupresores/uso terapéutico , Fallo Renal Crónico/etiología , Ganglios Linfáticos/patología , Linfadenopatía/tratamiento farmacológico , Linfadenopatía/patología , Metástasis Linfática/patología , Masculino , Síndrome Nefrótico/complicaciones , Sarcoma de Kaposi/complicaciones , Sarcoma de Kaposi/tratamiento farmacológico , Sarcoma de Kaposi/patología , Sirolimus/uso terapéuticoAsunto(s)
Fallo Renal Crónico/cirugía , Trasplante de Riñón/efectos adversos , Linfadenopatía/etiología , Profilaxis Antibiótica , Biopsia , Niño , Infecciones por Virus de Epstein-Barr/prevención & control , Infecciones por Virus de Epstein-Barr/virología , Rechazo de Injerto/inmunología , Rechazo de Injerto/prevención & control , Herpesvirus Humano 4/aislamiento & purificación , Humanos , Inmunosupresores/administración & dosificación , Inmunosupresores/efectos adversos , Fallo Renal Crónico/etiología , Ganglios Linfáticos/patología , Linfadenopatía/patología , Masculino , Síndrome Nefrótico/complicaciones , Complicaciones Posoperatorias/prevención & control , Complicaciones Posoperatorias/virología , Valganciclovir/administración & dosificaciónRESUMEN
We report a case of 15-year-old girl with T-cell acute lymphoblastic leukemia who had fever, neutropenia, and severe headache while receiving maintenance chemotherapy. Cerebrospinal fluid testing revealed a lymphocytic pleocytosis and no evidence of relapsed leukemia. Meningitis caused by lymphocytic choriomeningitis virus was identified serologically. The patient's course was complicated by hydrocephalus requiring ventriculoperitoneal shunt placement and by an intracranial hemorrhage. Lymphocytic choriomeningitis virus is a rare cause of aseptic meningitis that should be considered in the symptomatic immunocompromised patient with an appropriate exposure history.
Asunto(s)
Coriomeningitis Linfocítica/etiología , Virus de la Coriomeningitis Linfocítica/aislamiento & purificación , Meningitis Aséptica/etiología , Leucemia-Linfoma Linfoblástico de Células T Precursoras/complicaciones , Adolescente , Femenino , Humanos , Hidrocefalia/etiología , Huésped Inmunocomprometido , Hemorragias Intracraneales/etiología , Coriomeningitis Linfocítica/virología , Meningitis Aséptica/virología , Pruebas SerológicasRESUMEN
The authors describe a 6-year-old child, with a history of acute lymphoblastic leukemia, who presented with leukemic infiltration of the anterior segment of one eye mimicking anterior uveitis. After tissue diagnosis, administration of radiation therapy to the affected eye resulted in dramatic improvement of the condition. Involvement of the iris and anterior chamber is a recognized but unusual manifestation of leukemia. In the absence of systemic relapse, local radiation therapy without chemotherapy is highly effective, although the prognosis in these patients may be guarded.