614 Three Siblings with Neonatal Presentation of Griscelli Syndrome

Griscelli Syndrome

Griscelli syndrome.

We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This n...

Three Siblings with Androgen Insensitivity Syndrome.

Genetic, gonadal, phenotypic and psychological genderis the basis for gender assignment to an individual. Derangement in genetic makeup, under or over exposure to sex hormones and problems related to sex hormone receptors will lead to abnormal development of the external and internal genitalia. Failure to respond for the endogenous androgen, Androgen Insensitivity Syndrome is one of the common ...

Paediatric Dermatology Column: Case Report Silvery hair syndromes: report of familial cases of Griscelli syndrome in three siblings

Silvery hair is a rare clinical feature, common in a group of rare syndromes, which usually present in the paediatric age group termed together as "silvery hair syndromes". We report a consanguineous family in which three out of four siblings had silvery hair and neurological deficits and were diagnosed to have Griscelli syndrome. The diagnosis of Griscelli syndrome in our cases was based on cl...

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...