Chédiak-Higashi syndrome: presentation of seven cases

Abstract

CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocytes. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT) was proposed for one patient. DISCUSSION: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed.

Chédiak-Higashi Syndrome: An Accelerated Phase with Hereditary Elliptocytosis: Case Report and Review of the Literature

“…26,30 This can help in early diagnosis, therapy and bone marrow transplantation (BMT) before the "accelerated phase" of the disease has developed. Haddad et al 31 reported the outcome of BMT in 10 such children-seven from an HLA-identical related donor and three from an HLAnonidentical related donor.…”

Chediak-Higashi Syndrome Presented as Accelerated Phase in a 3 Year Girl Child: Case Report of a Rare Entity

“…Affected patients are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. The infections mainly occur in the skin and respiratory tract, most frequently associated with Staphylococcus aureus and Streptococcus beta-haemolyticus [4]. Patients with CHS exhibit alterations in neutrophils including neutropenia, decreased deformability resulting in impaired chemotaxsis and delayed phagolysosomal fusion resulting in impaired bactericidal activity [1].…”

“…The treatment of choice for CHS is Bone Marrow Transplantation (BMT) from a HLA compatible matched donor [1,6]. CHS patients not submitted to BMT; die at the mean age of 10 years [4].…”

Approach to the Patient With Recurrent Infections

“…Erythroderma in a patient with failure to thrive, eosinophilia, hepatosplenomegaly, and recurrent infections may suggest Omenn syndrome [47]. Silvery hair, pale skin, and photophobia are seen in children with Chédiak-Higashi syndrome [37,48]. Griscelli syndrome patients have characteristic clinical findings of the skin and hair, including large melanin clumps in the hair shaft, and abnormal skin melanocytes [49,50].…”

“…Neurologic symptoms are also seen in Chediak-Higashi syndrome. Patients may have cognitive impairment, nystagmus and cerebellar, spinal and peripheral neuropathies [37,48]. Patients with Griscelli syndrome have neurologic clinical manifestations that include seizures, ataxia, and oculomotor and reflex abnormalities.…”