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Literature DB >> 442990

Skin and conjunctival biopsies in infantile neuroaxonal dystrophy.

J J Martin, J G Leroy, J Libert, M van Eygen, N Logghe.

Abstract

The diagnosis of infantile neuro-axonal dystrophy (INAD) in a 5-year-old patient was confirmed by the ultrastructural study of neuromuscular, skin and conjunctival biopsy specimens. Abnormal networks of smooth membranous, lamellar and tubular profiles were found in presynaptic terminals and in conjunctival and dermal axons. INAD is the first neurological disease outside the group of storage disorders in which skin and conjunctival biopsies contribute significiantly to the diagnosis.

Entities: Disease Species

Mesh：

Year: 1979 PMID： 442990 DOI： 10.1007/bf00702677

Source DB: PubMed Journal: Acta Neuropathol ISSN： 0001-6322 Impact factor: 17.088

12 in total

1. Tumor- and drug-induced cutaneous neuro-phospholipidosis.

Authors: C E Orfanos; U Runne
Journal: J Cutan Pathol Date: 1975 Impact factor: 1.587

2. Infantile neuroaxonal dystrophy. Ultrastructural study of peripheral nerve.

Authors: M Shimono; M Ohta; M Asada; Y Kuroiwa
Journal: Acta Neuropathol Date: 1976-09-15 Impact factor: 17.088

3. [Neuro-muscular biopsy in the diagnosis of infantile neuroaxonal dystrophy. Ultrastructural study of 3 cases 2 of them familial].

Authors: A Sengel; P Stoebner
Journal: Acta Neuropathol Date: 1972 Impact factor: 17.088

4. Infantile neuroaxonal dystrophy. Ultrastructural study of the peripheral nerves and of the motor end plates.

Authors: J J Martin; L Martin
Journal: Eur Neurol Date: 1972 Impact factor: 1.710

5. Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy.

Authors: M L Arsénio-Nunes; F Goutières
Journal: J Neurol Neurosurg Psychiatry Date: 1978-06 Impact factor: 10.154

6. [Infantile neuro-axonal dystrophy and Hallervorden-Spatz disease. Electro-clinical and anatomo-pathological and differential diagnostic aspects].

Authors: J Radermecker; J J Martin
Journal: Bull Acad R Med Belg Date: 1972-07

7. Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses).

Authors: J J Martin; C de Groote
Journal: Pathol Eur Date: 1974

8. Diagnosis of type A Niemann-Pick's disease by conjunctival biopsy.

Authors: J Libert; P Danis
Journal: Pathol Eur Date: 1975

9. Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.

Authors: J J Martin; C Ceuterick
Journal: J Neurol Neurosurg Psychiatry Date: 1978-03 Impact factor: 10.154

Skin and conjunctival biopsies in infantile neuroaxonal dystrophy.

1. Tumor- and drug-induced cutaneous neuro-phospholipidosis.

2. Infantile neuroaxonal dystrophy. Ultrastructural study of peripheral nerve.

3. [Neuro-muscular biopsy in the diagnosis of infantile neuroaxonal dystrophy. Ultrastructural study of 3 cases 2 of them familial].

4. Infantile neuroaxonal dystrophy. Ultrastructural study of the peripheral nerves and of the motor end plates.

5. Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy.

6. [Infantile neuro-axonal dystrophy and Hallervorden-Spatz disease. Electro-clinical and anatomo-pathological and differential diagnostic aspects].

7. Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses).

8. Diagnosis of type A Niemann-Pick's disease by conjunctival biopsy.

9. Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.

10. Cerebral cortical isolation in infantile neuroaxonal dystrophy.

1. Axonal pathology of the skin in infantile neuroaxonal dystrophy.

2. Diagnosis of juvenile-adult form of neuroaxonal dystrophy by electron microscopy of rectum and skin biopsy.

3. Infantile neuroaxonal dystrophy in an albino girl. A cliniconeuropathologic study.

4. Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy.