Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course.
Infantile neuroaxonal dystrophy (IND) is a well-established autosomal recessive neurodegenerative disease. Clinical signs generally begin toward the end of the first or during the second year of life. We are aware of at least 4 cases of pre- or perinatal onset of this condition, and report here on 2 brothers who were affected at birth and had an unusual clinical course with onset of peripheral gangrene that progressed to autoamputation of digits. Both boys died in infancy with pathological changes compatible with IND. The somewhat different clinical course in these brothers leaves open the possibility that this is a variant of neuroaxonal dystrophy due to an X-linked recessive mutation.
Hunter
A G
AG
Division of Genetics, Children's Hospital, Eastern Ontario, Canada.
Jimenez
C L
CL
Carpenter
B F
BF
MacDonald
I
I
D000015:Abnormalities, Multiple / Q000473:pathology*; D001369:Axons / Q000473:pathology; D003711:Demyelinating Diseases / Q000473:pathology*; D005734:Gangrene / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male