PMID: 8597818Mar 1, 1995Paper

Griscelli syndrome: report of three cases

Pediatric Pathology & Laboratory Medicine : Journal of the Society for Pediatric Pathology, Affiliated with the International Paediatric Pathology Association
S GöğüşI Saatçi

Abstract

The clinical features of three children with Griscelli syndrome and autopsy findings of two are presented. The patients were 5 years, 9 months, and 3 months old, respectively. Clinical features included partial albinism, hepatosplenomegaly, and various neurological symptoms. Light and electron microscopic studies of the skin were compatible with Griscelli syndrome. Postmortem examination of the viscera and central nervous system revealed lymphohistiocytic infiltration with erythrophagocytosis. Bilateral diffuse involvement of the central nervous system, cranial nerve, and spinal cord was detected in both cases.

References

Oct 1, 1978·The American Journal of Medicine·C GriscelliM Prunieras
Nov 1, 1976·American Journal of Ophthalmology·R E AppenG M Rhein
Apr 1, 1991·European Journal of Pediatrics·A HaraldssonR Happle
Jan 1, 1987·The American Journal of Pediatric Hematology/oncology·Y Barak, E Nir
Jan 1, 1981·Acta Neuropathologica·C A MillerC Taylor
Mar 26, 1981·The New England Journal of Medicine·D N Shapiro, R J Hutchinson
May 1, 1993·European Journal of Pediatrics·H HurvitzE Okon

❮ Previous
Next ❯

Citations

Nov 20, 1997·Journal of Medical Virology·M WagnerG R Krueger
Oct 21, 1999·Molecular Genetics and Metabolism·W IntroneW A Gahl
Jun 12, 2002·American Journal of Human Genetics·Yair AniksterHaggit Hurvitz
Jul 31, 2004·Pediatric Dermatology·Juliana Burihan CahaliMírian Nacagami Sotto
May 31, 2001·Pediatrics International : Official Journal of the Japan Pediatric Society·Z KurugölC Ozkinay
Jul 28, 1999·Clinical Genetics·R A Spritz
Mar 7, 2002·Journal of Pediatric Hematology/oncology·M KumarB P Alter
Mar 7, 2006·Pediatric Hematology and Oncology·Deniz AslanBuket Dalgiç
Apr 1, 2004·Indian Journal of Pediatrics·Sanjeev RathVijay Kumar

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.