Search results for "Infantile neuroaxonal dystrophy"

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Axonal pathology of the skin in infantile neuroaxonal dystrophy.

1987

Ultrastructural studies on the skin of two patients affected by infantile neuroaxonal dystrophy (INAD) were performed to evaluate its diagnostic value and to discuss the etiology of INAD. While the majority of terminal axons around intradermal glands were dystophic consisting of tubulomembranous and tubulovesicular profiles sometimes accompanied by synaptic vesicles, there were only few dystophic axons inside intradermal nerve bundles. These observations suggest that the primary lesion of INAD is located in terminal and presynaptic axons. Therefore, terminal axons have to be investigated when a diagnostic skin biopsy is performed in INAD.

MalePathologymedicine.medical_specialtyAxonal pathologySynaptic vesiclePathology and Forensic MedicineInfantile neuroaxonal dystrophyCellular and Molecular NeurosciencemedicineHumansAxonNeuroaxonal dystrophySkinmedicine.diagnostic_testbusiness.industryLeukodystrophyInfantAnatomyPrimary lesionmedicine.diseaseAxonsSweat Glandsmedicine.anatomical_structurenervous systemChild PreschoolSkin biopsyFemaleNeurology (clinical)Nervous System DiseasesbusinessActa neuropathologica
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Infantile neuroaxonal dystrophy: Diagnosis by skin biopsy

1991

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.

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)businessBrain and Development
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AN ULTRASTRUCTURAL STUDY OF THE RETINA IN HUMAN LATE INFANTILE NEUROAXONAL DYSTROPHY

1993

A case involving a girl who died at 11 years of age and who had developed normally until the age of 18 months, at which time further psychomotor maturation stopped and then regressed, is reported. The patient appeared hypotonic and showed loss of deep tendon reflexes, as well as bulbar signs and increasing immobility. Visual impairment resulted in blindness at the age of 7 years. Her disease was diagnosed as late infantile neuroaxonal dystrophy (LINAD) after examination of sural nerve biopsy samples and after autopsy. Under electron microscopy, retinal axons were filled with tubulocisternal profiles and occasional large lamellar clefts close to or distant from synaptic complexes. These lesi…

Pathologymedicine.medical_specialtySural nerveAutopsyRetinaInfantile neuroaxonal dystrophychemistry.chemical_compoundRetinal DiseasesSural NerveHumansMedicineChildOuter nuclear layerMedulla OblongataRetinabusiness.industryMusclesRetinalHypertrophyGeneral Medicinemedicine.diseaseAxonsOphthalmologymedicine.anatomical_structurechemistryNerve DegenerationUltrastructureMedulla oblongataFemaleNervous System DiseasesbusinessRetina
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