Fetal neuroaxonal dystrophy: a further etiology of fetal akinesia

Neuroaxonal Dystrophies (NAD) are neurodegenerative diseases characterized by axonal “spheroids” occurring in different age groups. The identification of mutations delineated new molecular entities these disorders. We report neuropathological data a form NAD, precocious prenatal onset, from classical and conatal Infantile Dystrophy (INAD). studied 5 fetuses examined after pregnancy termination 2 term neonates deceased just birth, 4/7 born consanguineous parents. All subjects presented severe fetal akinesia sequence with microcephaly. In cases, study was performed. all typical immunohistochemical features were identified, variable spreading the central peripheral nervous system. Basal ganglia, brainstem, cerebellum, spinal cord involvement constant. Associated CNS malformations, unusual INAD, associated including hydrocephalus (2), callosal agenesis/hypoplasia olfactory agenesis (1), cortical (3) retinal (1) anomalies. None cases demonstrated PLA2G6, found INAD. clinical those “classical” absence addition, suggests that NAD is entity, distinct basis. malformations suggest wide phenotypic spectrum probable genetic heterogeneity. Finally, an additional etiology akinesia. LEARNING OBJECTIVES This presentation will enable learner to: Diagnose this rare neuroaxonal dystrophy precociously, life, as soon second trimester, infantile NAD. 1. Describe NAD; sequence, microcephaly various brain forms dystrophy. 2. Consider diagnosis sequence.