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Griscelli syndrome: a case report.

Mansouri Nejad SE, Yazdan Panah MJ, Tayyebi Meibodi N, Ashraf Zadeh F, Akhondian J, Beiraghi Toosi M, Eslamieh H - Iran J Child Neurol (2014)

Bottom Line: Three mutations have been described in different phenotypes of the disease.In most of cases, GS leads to death in the first decade of life.In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatric Neurology, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhahd, Iran.

ABSTRACT

Objective: Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.

No MeSH data available.


Related in: MedlinePlus

Larger microscopic view of the patient`s hair shaft
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Figure 3: Larger microscopic view of the patient`s hair shaft

Mentions: The initial laboratory investigations showed anemia (Hb: 11.3, HCT: 34.4) and granulocyte count was lower than normal (n=2500), in peripheral blood smear microcytosis and anisocytosis was obvious. The ESR was about 5. As regards to her granulocyte count, the immunoglobulin level was checked and IgG level was 234 mg/dl (normal range=400-1151 mg/dl) and IgA level was 42 mg/dl (normal range 40-220 mg/dl). Nitroblue tetrazolium test (NBT) was normal. A microscopic evaluation of the hair shaft revealed a typical pattern of presence of large clumps of pigment instead of small homogenous pigment granules as in normal hair (Figure(s) 2 and 3).


Griscelli syndrome: a case report.

Mansouri Nejad SE, Yazdan Panah MJ, Tayyebi Meibodi N, Ashraf Zadeh F, Akhondian J, Beiraghi Toosi M, Eslamieh H - Iran J Child Neurol (2014)

Larger microscopic view of the patient`s hair shaft
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4307372&req=5

Figure 3: Larger microscopic view of the patient`s hair shaft
Mentions: The initial laboratory investigations showed anemia (Hb: 11.3, HCT: 34.4) and granulocyte count was lower than normal (n=2500), in peripheral blood smear microcytosis and anisocytosis was obvious. The ESR was about 5. As regards to her granulocyte count, the immunoglobulin level was checked and IgG level was 234 mg/dl (normal range=400-1151 mg/dl) and IgA level was 42 mg/dl (normal range 40-220 mg/dl). Nitroblue tetrazolium test (NBT) was normal. A microscopic evaluation of the hair shaft revealed a typical pattern of presence of large clumps of pigment instead of small homogenous pigment granules as in normal hair (Figure(s) 2 and 3).

Bottom Line: Three mutations have been described in different phenotypes of the disease.In most of cases, GS leads to death in the first decade of life.In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatric Neurology, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhahd, Iran.

ABSTRACT

Objective: Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.

No MeSH data available.


Related in: MedlinePlus