Chediak–Higashi Syndrome Presented as Accelerated Phase: Case Report and Review of the Literature

Abstract

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, recurrent pyogenic infections (skin, mucosa and respiratory system), and neurologic deficit. The hallmark of this syndrome is the presence of abnormal intracytoplasmic giant granules in all granule containing cells including leukocytes in blood and bone marrow. A majority (85 %) of patients with CHS develop an accelerated phase consisting of a lymphoproliferative syndrome with hemophagocytosis and infiltration of most tissues. This phase is characterized by fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia and neurological abnormalities. In this paper, we report a case of CHS presented as accelerated phase in a 9-month-old girl child.

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene

“…Les femmes porteuses de la mutation peuvent présenter des anomalies du fond d'oeil telles que des anomalies pigmentaires en mosaïque, décrites dès 1942 par Vogt (64), dont Lyon précisa en 1962 qu'elles étaient en faveur d'une transmission liée à l'X de cette atteinte (65). (77)(78)(79). La physiopathologie consiste en une anomalie de la régulation du trafic lysosomal.…”

“…Une chimiothérapie et des transfusions multiples peuvent parfois s'avérer efficaces en cas de lympho-histiocytose hématophagocytaire. Enfin, la greffe de cellules souches hématopoïétiques est le seul traitement curatif à l'heure actuelle (79,81). L'implication du gène LYST dans ce syndrome a été mise en évidence dès 1999 (82).…”

A Girl with Gray Hair and Pyogenic Infections

“…It is characterized by partial oculocutaneous albinism with silvery hair and, occasionally, speckled hypopigmentation and hyperpigmentation on sun‐exposed areas. Affected patients also have immunodeficiency, with recurrent pyogenic infections and neurologic deficits . The mean age of diagnosis is 5.85 years.…”

“…Most patients die before 10 years of age. In patients who survive beyond childhood, the neurologic problems persist or increase in magnitude .…”

Chediak–Higashi Syndrome in Accelerated Phase

“…Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder that affects multiple systems of the body mainly the immune system [1]. The clinical manifestations of CHS in accelerated phase include high fever, neurological abnormalities, lymphadenopathy, hepatosplenomegaly, pancytopenia, abnormal giant granules in peripheral blood and bone marrow, lymphohistiocytic infiltration in liver, spleen and lymphnodes [2].The only treatment is allogenic haematopoietic stem cell transplantation (HSCT). The prognosis is poor [3].…”