RESUMO

OBJECTIVE: To report a series of atypical presentations of Aicardi-Goutières syndrome. METHODS: Clinical, neuroimaging, and genetic data. RESULTS: We report a series of six unrelated patients (five males) with a subacute loss of developmental milestones, pyramidal signs, and regression of communication abilities, with onset at ages ranging from 7 to 20 months, reaching a nadir after 4 to 24 weeks. A remarkable improvement of lost abilities occurred in the follow-up, and they remained with residual spasticity and dysarthria but preserved cognitive function. Immunization or febrile illness occurred before disease onset in all patients. CSF was normal in two patients, and in four, borderline or mild lymphocytosis was present. A brain CT scan disclosed a subtle basal ganglia calcification in one of six patients. Brain MRI showed asymmetric signal abnormalities of white matter with centrum semi-ovale involvement in five patients and a diffuse white matter abnormality with contrast enhancement in one. Four patients were diagnosed and treated for acute demyelinating encephalomyelitis (ADEM). Brain imaging was markedly improved with one year or more of follow-up (average of 7 years), but patients remained with residual spasticity and dysarthria without cognitive impairment. Demyelination relapse occurred in a single patient four years after the first event. Whole-exome sequencing (WES) was performed in all patients: four of them disclosed biallelic pathogenic variants in RNASEH2B (three homozygous p.Ala177Thr and one compound heterozygous p.Ala177Thr/p.Gln58*) and in two of them the same homozygous deleterious variants in RNASEH2A (p.Ala249Val). CONCLUSIONS: This report expands the phenotype of AGS to include subacute developmental regression with partial clinical and neuroimaging improvement. Those clinical features might be misdiagnosed as ADEM.

RESUMO

Los ‘síntomas premonitorios’ de la eclampsia se pueden ver englobados como verdaderos síntomas de afectación cerebral dentro del síndrome de leucoencefalopatía posterior reversible, y la eclampsia como un síntoma severo. Objetivo. Revisar las características epidemiológicas de los casos con eclampsia, enfatizando el análisis de las manifestaciones neurológicas asociadas, en un hospital nacional. Diseño. Serie de casos. Institución. Hospital Nacional Daniel A. Carrión (HNDAC), Lima, Perú. Pacientes. Mujeres con eclampsia. Metodología. Estudio de todas las pacientes con eclampsia en un periodo de 5 años y 6 meses. Se excluyó aquellas con eclampsia extrainstitucional o con datos insuficientes. Principales medidas de resultados. Características generales, síntomas asociados, complicaciones y valores laboratoriales en pacientes eclámpticas. Resultados. Se halló 39 casos. La incidencia fue 0,19% del total de gestantes. La edad media fue 21 años, 75,8% fueron primíparas, 44,4% por debajo de las 34 semanas y en 69,7% ocurrió antes del parto; 51,5% tuvo presión arterial mayor a 160/110 mmHg y 12,1% no presentó hipertensión arterial; 93,9% tuvo síntomas, siendo los más frecuentes cefalea (87,9%), alteraciones visuales (27,2%) y auditivas (12,1%). Hubo dos casos de pacientes con cefalea y presión arterial normal, y 2 casos sin sintomatología. Las complicaciones fueron trastorno de sensorio, desprendimiento prematuro de placenta (15,2%), síndrome HELLP (15,2%) e HTA de difícil control (39,4%). No hubo casos de mortalidad materno perinatal. Conclusiones. La sintomatología neurológica que antecede a la eclampsia en la gestante con preeclampsia es muy variable y su correlación con la severidad de la hipertensión arterial materna no es constante.

The “premonitory symptoms” of eclampsia can be interpreted as actual symptoms of cerebral involvement within the posterior reversible leukoencephalopathy syndrome, and eclampsia as a severe symptom of the same syndrome. Objective: To review the characteristics of women with eclampsia in a national hospital, with emphasis on the associated neurological manifestations. Design: Case series. Institution: Hospital Nacional Daniel Alcides Carrion (HNDAC), Lima, Peru. Patients: Women with eclampsia. Methodology: Study of all patients with eclampsia over a period of 5 years and 6 months. Eclampsia cases that occurred outside the institution or with insufficient data were excluded. Main outcome measures: General characteristics, associated symptoms, complications and laboratory values in eclamptic patients. Results: Thirty-nine cases were reported. The incidence of eclampsia in pregnant women was 0.19%. The mean age was 21 years; 75.8% of the women were primiparous and 44.4% were less than 34 weeks pregnant. 69.7% of them were diagnosed before delivery; 51.5% had blood pressure above 160/110 mmHg and 12.1% had no hypertension. 93.9% presented symptoms, mainly headache (87.9%), as well as visual (27.2%) and auditory (12.1%) disturbances. Two patients had headache and normal blood pressure, and 2 cases were asymptomatic. Complications were: sensory alterations, abruptio placentae (15.2%), HELLP syndrome (15.2%) and difficult-to-control hypertension (39.4%). There were neither maternal nor perinatal deaths. Conclusions: The neurological manifestations that precede eclampsia are variable and do not have a constant correlation with the severity of maternal hypertension.

RESUMO

Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiologic entity not yet understood, that presents with transient neurologic symptoms and particular radiological findings. Few papers show the differences between pregnant and non-pregnant patients. We review the cases of 38 women diagnosed with PRES, in order to find significant differences between pregnant (18) and non-pregnant (20) patients. We found differences among the age of patients (25.83 years old in pregnant and 29.31 years old in non pregnant; P=0.001); in the mean of highest systolic blood pressure, that was higher in non-pregnant group (185:162 mmHg; P=0.121); and in creatinine levels that was higher in non-pregnant group (3.47:1.04 mg/dL; P=0.001). To our knowledge, just a few papers analyzed whether PRES syndrome presented in the same way in pregnant and non-pregnant patients. The differences and the possible pathophisiology of this syndrome still remain enigmatic.