RESUMEN
The objective of the present study was to examine demographic, historical, and prothrombotic risk factors in infants with perinatal arterial stroke and their mothers. Risk factors were evaluated in 60 mother-child pairs with perinatal arterial stroke. Prothrombotic factors analyzed included the DNA mutations factor V Leiden, prothrombin 20210, MTHFR C677T and A1298C; serum activity levels for protein C, protein S, and antithrombin III; serum levels of lipoprotein(a); and, in the mothers, antiphospholipid antibodies. Boys predominated, 36:24. There were four twin sets. Sixty percent were term and 22% were post-date. Ten were large for gestational age. Five mothers had abdominal trauma. Nine mothers (15%) had preeclampsia. Emergency caesarean section was performed in 17 cases (28%). Eight placental exams revealed seven with abnormalities. Seizures were the presenting sign in 70%, and 30% presented with early handedness or cerebral palsy. Prothrombotic risk factors were found in 28 of 51 mothers (55%) and 30 of 60 children (50%). Forty-one pairs (68%) had at least one abnormality in mother, child, or both. Long-term sequelae included cerebral palsy (40 of 51; 78%), cognitive impairment (35 of 51; 68%), seizures (23 of 51; 45%), and microcephaly (26 of 51; 51%). Perinatal arterial stroke is the result of multifactorial, synergistic fetal and maternal factors among which the prothrombotic factors, both fetal and maternal, appear significant.
Asunto(s)
Trombosis Intracraneal/epidemiología , Trombosis Intracraneal/genética , Preeclampsia/epidemiología , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/genética , Adolescente , Adulto , Anticuerpos Antifosfolípidos/sangre , Antitrombina III/metabolismo , Arterias Cerebrales , Factor V/genética , Salud de la Familia , Femenino , Predisposición Genética a la Enfermedad/epidemiología , Humanos , Recién Nacido , Trombosis Intracraneal/sangre , Lipoproteína(a)/sangre , Masculino , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Placenta/patología , Embarazo , Proteína C/metabolismo , Proteína S/metabolismo , Protrombina/genética , Factores de Riesgo , Distribución por Sexo , Accidente Cerebrovascular/sangreRESUMEN
Fibrodysplasia ossificans progressiva, a rare and severely disabling genetic condition, is characterized clinically by progressive ossification of skeletal muscle and connective tissue and congenital malformations of the great toes. Recurrent episodes of heterotopic ossification (flare-ups) lead to increasing loss of mobility as joints become progressively affected. We report the case of a young woman with fibrodysplasia ossificans progressiva who had recurrent, debilitating myoclonus that was refractory to conventional therapies but was relieved for prolonged periods after general anesthesia was administered.