PMID- 12861504
OWN - NLM
STAT- MEDLINE
DCOM- 20040415
LR  - 20090528
IS  - 0210-0010 (Print)
IS  - 0210-0010 (Linking)
VI  - 37
IP  - 1
DP  - 2003 Jul 1-15
TI  - [Mixed hypotonia, neurological regression and atrophy of the cerebellum: 
      manifestations that suggest infantile neuroaxonal dystrophy].
PG  - 25-8
AB  - INTRODUCTION: Infantile neuroaxonal dystrophy (INAD), or Seitelberger disease, is 
      a neurodegenerative disease of unknown origin which is transmitted by autosomal 
      recessive inheritance. Clinically, it courses with psychomotor stagnation and 
      regression that begins at the age of one or two years, associated to hypotonia 
      with mixed clinical features (segmentary and suprasegmentary) that progresses 
      towards spastic tetraplegia and progressive optic atrophy and dementia; this 
      leads to death before the age of ten years. AIMS. To present the case of a 30 
      month old child with INAD, in whom a N acetylgalactosaminidase deficiency and 
      mitochondrial cytopathy were ruled out. CASE REPORT: Male aged 30 months with an 
      initial overall retardation, and later regression, of psychomotor acquisitions. 
      In the physical exploration the patient displayed serious neurological 
      involvement with mixed hypotonia, muscular hypotrophy with generalised weakness 
      and mild bilateral horizontal nystagmus. Complementary explorations with 
      neuroimaging revealed a slight increase in the subarachnoid space, with atrophy 
      of the vermis and cerebellar hemispheres. Neurophysiological tests (EMG and ENG), 
      which were initially normal, later showed signs of denervation in the EMG, and 
      the ENG revealed a decreased amplitude of motor responses, with preservation of 
      conduction speed. Histological tests showed the presence of axons with axoplasm 
      expanded by the inclusion of typical tubulovascular structures. CONCLUSION: The 
      clinical features of our patient met all the criteria to satisfy a diagnosis of 
      INAD, and he displayed a classic form of the disease. INAD must be considered 
      when the clinician is faced with: 1. A clinical picture of stagnation and later 
      regression of psychomotor development before the age of two years; 2. Hypotonia, 
      muscular atrophy and initial overall areflexia, with later progression towards 
      pyramidalism; 3. Initially normal EMG findings, with later signs of denervation; 
      4. Cerebellar atrophy (hemispheres and vermis); 5. Visual deficit, and 6. 
      Histopathological proof of characteristic findings.
FAU - Blanco-Barca, M O
AU  - Blanco-Barca MO
AD  - Servicio de Neuropediatria, Hospital Clinico Universitario de Santiago de 
      Compostela, Santiago de Compostela, Espana.
FAU - Eiris-Punal, J
AU  - Eiris-Punal J
FAU - Pena-Guitian, J
AU  - Pena-Guitian J
FAU - Fernandez-Bustillo, J M
AU  - Fernandez-Bustillo JM
FAU - Pintos-Martinez, E
AU  - Pintos-Martinez E
FAU - Castro-Gago, M
AU  - Castro-Gago M
LA  - spa
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
TT  - Hipotonia mixta, regresion neurologica y atrofia cerebelosa: manifestaciones 
      sugestivas de distrofia neuroaxonal infantil.
PL  - Spain
TA  - Rev Neurol
JT  - Revista de neurologia
JID - 7706841
SB  - IM
MH  - Atrophy
MH  - Cerebellum/*pathology
MH  - Child, Preschool
MH  - Humans
MH  - Male
MH  - Muscle Hypotonia/*physiopathology
MH  - Myelin Sheath/pathology/ultrastructure
MH  - Nervous System Diseases/*physiopathology
MH  - Neuroaxonal Dystrophies/*diagnosis/pathology/physiopathology
EDAT- 2003/07/16 05:00
MHDA- 2004/04/16 05:00
CRDT- 2003/07/16 05:00
PHST- 2003/07/16 05:00 [pubmed]
PHST- 2004/04/16 05:00 [medline]
PHST- 2003/07/16 05:00 [entrez]
AID - rn2002612 [pii]
PST - ppublish
SO  - Rev Neurol. 2003 Jul 1-15;37(1):25-8.