480 Silvery-gray Hair Patient with neurologic deterioration
نویسندگان
چکیده
ment, 1 did not received and had some improvement of their symptoms. Conclusions:We found out that the 8 patients with autoimmunity had allergy and also mixed T and B immunodeficiency. We conclude that the physicians should be aware of the correlation in chronic inflammation and the presence of the 3 immunological clinical problems to give appropriate treatment and improve the prognosis of these patients.
منابع مشابه
Neuroimaging findings in Griscelli syndrome type 2 with primary neurological presentation
We report the radiologic findings in two children with Griscelli syndrome who presented mainly with neurologic findings. Both children were born to consanguineous parents, had normal birth and developmental histories; both had silvery gray hair from the time of birth. The first child presented with symptoms of increased intracranial pressure and cerebellar ataxia; the second child with cerebell...
متن کاملGriscelli syndrome and electroencephalography pattern.
Dr. Paulo B.N. Liberalesso – Rua Benjamin Constant 90 / 73 80060-050 Curitiba PR Brasil. E-mail: [email protected] In 1978 in France, Claude Griscelli and Michel Prunieras reported the cases of two girls who presented with silver gray hair, several episodes of fever, hepatosplenomegaly and pancytopenia. The combination of pigment dilution and recurrent infectious episodes raised the dia...
متن کاملGriscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairm...
متن کاملSpontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.
Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders: Chédiak-Higashi syndrome (CHS), Elejalde syndrome (ES), and Griscelli syndrome (GS). We report the case of a 2-month-old male infant with transient silvery hair and generalized hypopigmentation of the skin and eyes who did not have one of these classic causative disorders. The patient was delivered at 35 weeks' ge...
متن کاملGriscelli syndrome - a case report.
Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism with variable immunodeficiency. Silvery gray hair with large, clumped melanosomes on microscopy of hair shafts are diagnostic. The commonest complication leading to mortality includes lymphohistiocytic proliferation in various organs, including the brain. We present a child with classic clinical features...
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عنوان ژورنال:
دوره 5 شماره
صفحات -
تاریخ انتشار 2012