Chédiak-Higashi syndrome with novel gene mutation

Abstract

Chédiak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. Over the past 20 years, ∼500 cases were published worldwide. The mean age of onset is 5-6 years. We report here a case of CHS in a boy aged 2½ years who presented to us with pneumonia which turned to be Chédiak-Higashi syndrome with a novel variant, not previously described in the literature, which is caused by mutations in the gene.This case is reported for its novel mutation, and the absence of the accelerated phase until now. Awareness, early recognition and management of this condition may prevent the preterm morbidity associated with this case.

Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach

“…A definitive diagnosis is established only after laboratory analyses; presence of giant granules in the cytoplasm of neutrophils, lymphocytes, eosinophils, and NK cells is a hallmark of CHS. 45,46 The distribution of giant melanin granules in the hair shaft can also help in diagnosing CHS; melanin granules are larger in size and fewer in number compared with normal individuals. This method can distinguish between CHS and other hypopigmentation or silvery hair syndromes such as GS2.…”

“…We can identify carriers using mutation analysis, unlike hair shaft microscopy. 45 Neurological manifestations can be detected by magnetic resonance imaging (MRI) and computed tomography (CT) examination, which help a neurologist to suspect CHS when these presentations are accompanied by oculocutaneous albinism (OCA). Prenatal diagnosis is possible using genetic testing of chorionic villus cells, amniotic fluid sample, or examining fetal white blood corpuscle (WBC) count.…”

Clinical aspects and main diagnostic methods of Chediak-Higashi Syndrome

“…The late form affects mainly adolescents and adults, being less aggressive and having few infection events. However, in these patients, neurological deterioration is more evident 5,15,19 and associated with sensory and motor neuropathy, ataxia, cognitive impairment, tremor, convulsions, and parkinsonism, among other possible manifestations 3,20,21 .…”

Genetic analysis in Egyptian patients with Chediak–Higashi syndrome reveals new LYST mutations

“…This may explain the characteristic giant granules in various cell types including melanocytes and myeloid cells . To date, < 75 pathogenic LYST mutations in CHS have been recorded (Table ) …”

“…2,3 To date, < 75 pathogenic LYST mutations in CHS have been recorded (Table S1). 4 We report three unrelated Egyptian patients diagnosed with CHS who were found to have previously unreported LYST gene mutations ( Fig. 1).…”