Rare Diseases Symptoms Automatic Extraction

Hemophagocyctic lymphohistiocytosis developed in a Japanese boy with Chédiak-Higashi syndrome.

[oculocutaneous albinism]

Chédiak-Higashi syndrome (CHS) is one of the primary immunodeficiency syndromes accompanied by oculocutaneous albinism. It is characterized by existence of giant granule of neutrophils, and development of symptoms of hemophagocytic lymphohistiocytosis. CHS is a rare disorder and recognition of the disease is indispensable for its diagnosis. In our case, a four-month-old boy, virus-associated hemophagocytic syndrome (VAHS) was suspected from generation of fever, hepatosplenomegaly, and existence of atypical lymphocytes on admission. However, elevation of serum AST, LDH and ferritin were quite slight as VAHS, and rapid exacerbation of the findings was not seen. Associated virus was undetected. He was finally diagnosed as CHS developing hemophagocyctic lymphohistiocytosis based on the existence of a giant granule of neutrophils in the peripheral blood smear and oculocutaneous albisum and laboratory findings. Clinical outcome was successful after receiving HLA-matched unrelated bone marrow transplantation.

Diseases presenting "fever" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • canavan disease
  • carcinoma of the gallbladder
  • child syndrome
  • congenital toxoplasmosis
  • cushing syndrome
  • cystinuria
  • dracunculiasis
  • erdheim-chester disease
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • familial mediterranean fever
  • focal myositis
  • hodgkin lymphoma, classical
  • lamellar ichthyosis
  • legionellosis
  • locked-in syndrome
  • malignant atrophic papulosis
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • papillon-lefèvre syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • triple a syndrome
  • typhoid
  • waldenström macroglobulinemia
  • wolf-hirschhorn syndrome

This symptom has already been validated