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Neuronal ceroid lipofuscinosis diagnosed via skin biopsy.

Publication ,  Journal Article
Puri, PK; Leilani Valdes, C; Angelica Selim, M; Bentley, RC
Published in: J Clin Neurosci
December 2010

We aim to report that skin biopsy, a non-invasive test by neurological standards, may lead to a diagnosis. A 4-year-old male presented with a 2-year history of epilepsy and progressive developmental regression. The patient had a mildly elevated ammonia level; however, evaluation for the accumulation of excess serum amino acids and evaluation of urine for organic acids was negative. MRI revealed cerebral atrophy, and an electroencephalogram demonstrated multifocal sharp and slow waves. Due to the progressive degenerative neurologic presentation, a neurologic storage disease was favored. An axillary skin biopsy was performed, revealing eosinophilic intra-cytoplasmic inclusions within the eccrine glands. A periodic acid-Schiff stain also highlighted these inclusions. Electron microscopic studies demonstrated characteristic multiple membrane-bound inclusions within the eccrine epithelial cells, containing curvilinear inclusion material characteristic of neuronal ceroid lipofuscinosis. The clinical, histological, electron microscopic and enzymatic studies were diagnostic of late-infantile onset neuronal ceroid lipofuscinosis.

Duke Scholars

Published In

J Clin Neurosci

DOI

EISSN

1532-2653

Publication Date

December 2010

Volume

17

Issue

12

Start / End Page

1585 / 1587

Location

Scotland

Related Subject Headings

  • Skin
  • Neuronal Ceroid-Lipofuscinoses
  • Neurology & Neurosurgery
  • Microscopy, Electron, Transmission
  • Male
  • Magnetic Resonance Imaging
  • Inclusion Bodies
  • Humans
  • Epilepsy
  • Electroencephalography
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Puri, P. K., Leilani Valdes, C., Angelica Selim, M., & Bentley, R. C. (2010). Neuronal ceroid lipofuscinosis diagnosed via skin biopsy. J Clin Neurosci, 17(12), 1585–1587. https://doi.org/10.1016/j.jocn.2010.03.027
Puri, Puja K., C. Leilani Valdes, M. Angelica Selim, and Rex C. Bentley. “Neuronal ceroid lipofuscinosis diagnosed via skin biopsy.J Clin Neurosci 17, no. 12 (December 2010): 1585–87. https://doi.org/10.1016/j.jocn.2010.03.027.
Puri PK, Leilani Valdes C, Angelica Selim M, Bentley RC. Neuronal ceroid lipofuscinosis diagnosed via skin biopsy. J Clin Neurosci. 2010 Dec;17(12):1585–7.
Puri, Puja K., et al. “Neuronal ceroid lipofuscinosis diagnosed via skin biopsy.J Clin Neurosci, vol. 17, no. 12, Dec. 2010, pp. 1585–87. Pubmed, doi:10.1016/j.jocn.2010.03.027.
Puri PK, Leilani Valdes C, Angelica Selim M, Bentley RC. Neuronal ceroid lipofuscinosis diagnosed via skin biopsy. J Clin Neurosci. 2010 Dec;17(12):1585–1587.
Journal cover image

Published In

J Clin Neurosci

DOI

EISSN

1532-2653

Publication Date

December 2010

Volume

17

Issue

12

Start / End Page

1585 / 1587

Location

Scotland

Related Subject Headings

  • Skin
  • Neuronal Ceroid-Lipofuscinoses
  • Neurology & Neurosurgery
  • Microscopy, Electron, Transmission
  • Male
  • Magnetic Resonance Imaging
  • Inclusion Bodies
  • Humans
  • Epilepsy
  • Electroencephalography