Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis.

[homocystinuria without methylmalonic aciduria]

Cobalamin C disease is a rare genetic condition resulting in methylmalonic aciduria , homocystinuria , and hematologic abnormalities . Clinical characteristics include ophthalmologic findings and neurological abnormalities , such as microcephaly , seizure , and mental retardation . The authors report on a 4 -month -old patient initially diagnosed with hemophagocytic lymphohistiocytosis (HLH ), who was later diagnosed with cobalamin C disease .

Diseases
Validation

Diseases presenting "microcephaly" symptom

22q11.2 deletion syndrome

alpha-thalassemia

coats disease

cohen syndrome

congenital toxoplasmosis

dentin dysplasia

hirschsprung disease

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

phenylketonuria

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

This symptom has already been validated