Lafora
Home Nach oben Dabska Hidraden. papillif. Lafora Langerhans-Z.H. NXG P.  seborrhoicus Neuroglia BCC-Variant

Clinical information : adolescent girl with severe generalized convulsions
(myoclonic seizures). Skin biopsy with apocrine glands.

In order to get full-screen pictures click on the thumbnail picture.
Please note that the high data load requires increased loading time for full screen pictures.


Lafora's Disease
case courtesy of Louis Requena, M.D.
fig.1 hohe Auflösung  (80KB)
PAS
fig.2 hohe Auflösung  (57 KB)
PAS
fig.3 hohe Auflösung  (61 KB)
PAS
fig.4 hohe Auflösung  (87 KB)
PAS
fig.5 hohe Auflösung  (61 KB)
PAS
fig.6 hohe Auflösung  (63 KB)
PAS

 

Colbar0.gif (1095 Byte)
bullet

Clinical Picture
Young woman with progressive myoclonus epilepsy. No (!) cutaneous clinical findings. Skin biopsy prefered as the most convenient and least invasive method of establishing  the diagnosis of Lafora disease.

 

bullet

Histopathology
The inclusion bodies (Lafora bodies, polyglucosan bodies) are well seen in the excretoryducts of eccrine and apocrine sweat glands and peripheral nerves of clinically normal skin. They are PAS positive and diastase resistant. The number of inclusions may vary with the biopsy site.

 

bullet

Discussion
Lafora disease (Unverricht's disease, myoclonic epilepsy) is a familial, degenerative disorder with the clinical triad of seizures, myoclonus and dementia. Cutaneous lesions are rarely present. The enzyme defect is currently unknown, but the disease is usually regarded as an inborn error of carbohydrate metabolism. The intracytoplasmic inclusion bodies found in various organs, particularly in ganglion cells in parts of the brain, are glucose polymers; they were first described by Lafora, who considered them to consist of amyloid.

 

bullet

Diagnosis                             Lafora Disease

 

bullet

References

Newton GA et al. (1987)
Lafora's disease. The role of skin biopsy.
Arch Dermatol 123:1667-1669

Carpenter S (1987)
Skin biopsy for diagnosis of hereditary neurologic metabolic disease.
Arch Dermatol 123:1618-1621

Colbar0.gif (1095 Byte)

Dermatohistopathologische Gemeinschaftspraxis
Siemensstraße 6/1
88048 Friedrichshafen
Germany 
Tel. :  ++49/7541 / 6044- 0
Fax : ++49/7541 / 6044-10
e-mail:  dermpath@dermpath.de
zum Anfang der Seite

Zurück Home Nach oben Weiter

© 1998-2010     Dermatopathologie Friedrichshafen, Bodensee, Siemensstraße 6/1, 88048 Friedrichshafen, Germany,
                         Tel. 07541/6044-0, Fax 07541/6044-10, email: dermpath@dermpath.de

                         webmistress  j.schroeder@dermpath.de             letzte Aktualisierung
18.01.2008 18:30