Rare Diseases Symptoms Automatic Extraction

Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature.

[oculocutaneous albinism]

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.

Diseases presenting "lymphadenopathy" symptom

  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • carcinoma of the gallbladder
  • congenital toxoplasmosis
  • erdheim-chester disease
  • focal myositis
  • hodgkin lymphoma, classical
  • liposarcoma
  • lymphangioleiomyomatosis
  • oculocutaneous albinism
  • omenn syndrome
  • primary effusion lymphoma
  • scrub typhus
  • severe combined immunodeficiency
  • typhoid
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome

This symptom has already been validated