New form of autosomal-recessive axonal hereditary sensory motor neuropathy.
Two siblings, a male and a female, had severe axonal neuropathy and sideroblastic anemia. Despite a distinct clinical picture with areflexia, ataxia, hypotonia, optic atrophy, and progressive sensory neural hearing loss, no definite diagnosis could be reached and the older sibling died at 6 years of age of respiratory failure. It is proposed that the two affected siblings have a new form of autosomal-recessive axonal hereditary sensory motor neuropathy.
Eckhardt
S M
SM
Great Ormond Street Hospital, London, United Kingdom.
Hicks
E M
EM
Herron
B
B
Morrison
P J
PJ
Aicardi
J
J
D000756:Anemia, Sideroblastic / Q000150:complications / Q000175:diagnosis; D001706:Biopsy; D001921:Brain / Q000473:pathology; D001996:Bronchopneumonia / Q000150:complications; D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009679:Nuclear Family; D013497:Sural Nerve / Q000473:pathology