1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-6-78-b 10.15844/pedneurbriefs-6-10-7 Muscle Diseases Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Werdnig-Hoffmann: Dominant Inheritance http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 10 1992 01 07 2016 6 10 78 79 Copyright: © 1992 The Author(s) 1992 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance

A family in which both Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy occurred, with apparent autosomal dominant inheritance, is reported from the Department of Neurology, Mayo Clinic Jacksonville, FL and Johns Hopkins University School of Medicine, Baltimore, MD.

 Werdnig-Hoffmann Disease Autosomal Dominant Inheritance Neonatal Adrenoleukodystrophy

A family in which both Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy occurred, with apparent autosomal dominant inheritance, is reported from the Department of Neurology, Mayo Clinic Jacksonville, FL and Johns Hopkins University School of Medicine, Baltimore, MD. The female proband developed symptoms of Werdnig-Hoffmann disease at 2 months of age and died at 10 months. The proband’s father and his 2 brothers developed bilateral progressive atrophy and weakness of the hands and legs in their second decade of life. The mother had no symptoms or signs of motor neuron disease, but EMG revealed distal denervation of the limbs. Family studies suggested autosomal dominant inheritance, although the Werdnig-Hoffmann disease may have been influenced by a maternally derived trait. [1]

COMMENT. Werdnig-Hoffmann disease is generally regarded as an autosomal recessive disorder with linkage to chromosome 5ql 1.2-13.3. Other studies have suggested genetic heterogeneity.

The prognosis of patients with Werdnig-Hoffmann disease and a clinical scoring system are evaluated by Russman BS et al [2]. The 7 criteria for a poor prognosis were poor movement in utero, presence of tongue fasciculation, a poor cry, inability to hold the head at 3 months, inability to roll over by 6 months, loss of function, and diaphragmatic breathing. Five patients with scores of 4-7 died prior to 15 months of age, while 1 patient with a score of 1 died at 31 years. Patients whose scores during the first 6 months of life were 0 or 1 are living and range in age from 3-27 years. Death prior to age 2-4 years is not invariable.

A unique presentation of neonatal adrenoleukodystrophy as a progressive spinal muscular atrophy is reported in 2 siblings who later developed the symptoms and signs of encephalopathy [3]. Peroxisomal diseases must be considered in the differential diagnosis of Werdnig-Hoffmann disease.

 Boylan KB Cornblath DR Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance Ann Neurol 1992 Sep 32 3 404 407 10.1002/ana.410320318 1416812 Russman BS Ann Neurol 1992 Sept 32 439 (abstr) Miles DK Ann Neurol 1992 Sept 32 466 (abstr)