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11 Cards in this Set
- Front
- Back
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Clinical Greiscelli Syndrome |
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Inheritance
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Autosomal recessive
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Preanatal
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Fetal scalp biopsy at 21 weeks' gestation: hair evaluation; fetal blood sample: leukocyte evaluation DNA analysis
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Incidence
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Rare less than 40 cases reported; M=F
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Age at Presentation
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First year of life
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Pathogenesis
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Mutations in gene encoding for myosin Va or RAB27a, proteins involved in organelle trafficking and membrane transport; melanophilin gene mutations also implicated in a subset of patients
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Clinical
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Skin
Pigmentary dilution; cutaneous pyogenic infections, abscesses Hair Silver gray hair, eyebrows, eyelashes Hematologic Neutropenia, thrombocytopenia, without leukocyte inclusions Immunologic Lymphohistiocytic infiltration leading to hepatosplenomegaly, combined T and B cell immunodeficiency; accelerated lymphoma like phase (i.e., Chediak H igashi) often occurs infectious Disease Episodic fever with/without infection, pyogenic systemic infections Neurologic Progressive deterioration with hypotonia, psychomotor retardation, seizures |
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D/Dx
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Chediak Higashi syndrome (p. 62) Elejalde syndrome Chronic granulomatous disease (p. 258) OCA2
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Lab
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Hair uneven clumps of melanin in medulla of hair shaft on light microscopy Complete blood count (CBC) absent cytoplasmic inclusion bodies in neutrophils
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Management
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Referral to hematology oncology bone marrow transplant Referral to infectious disease
Referral to neurologist Referral to dermatology assist in diagnosis |
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Prognosis
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Progressive deterioration may be aborted with bone marrow transplantation
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