6533b830fe1ef96bd129661f
RESEARCH PRODUCT
Infantile neuroaxonal dystrophy: Diagnosis by skin biopsy
Mine ÇAlışkanHans H. GoebelSelçuk ApakMeral ÖZmensubject
MalePathologymedicine.medical_specialtyMuscle HypotoniaBiopsySural nerveInfantile neuroaxonal dystrophyDegenerative diseaseDevelopmental NeuroscienceBiopsyHumansMedicineSkinmedicine.diagnostic_testMental deteriorationbusiness.industryLeukodystrophyInfantPeripheral Nervous System DiseasesNeuromuscular DiseasesGeneral Medicinemedicine.diseaseChild PreschoolPediatrics Perinatology and Child HealthSkin biopsyFemaleNeurology (clinical)businessdescription
A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have infantile neuroaxonal dystrophy (INAD). Beyond the age of two years, the EEG also entails characteristic findings. Diagnosis may be obtained by an ultrastructural examination of biopsied skin. The respective clinical and morphological findings are recorded and illustrated from four patients in this report.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1991-07-01 | Brain and Development |