title: Wiskott-Aldrich syndrome is an important differential diagnosis in male infants with juvenile myelomonocytic leukemialike features.
abstract: A newborn presented with thrombocytopenia at birth and subsequently developed leukocytosis, monocytosis, and mild hepatomegaly. The bone marrow was normocellular with dysplasia and spontaneous granulocyte-monocyte colony formation was demonstrated. These findings fulfilled the diagnostic criteria of juvenile myelomonocytic leukemia. Then he developed atopic dermatitislike eczema, which led to the consideration of Wiskott-Aldrich syndrome (WAS). Lack of intracellular WASP expression and WASP gene mutation confirmed the diagnosis of WAS. After stem cell transplantation, he is alive in good condition with normal WASP expression. WAS should be considered as a differential diagnosis in male infants with juvenile myelomonocytic leukemialike features.
authors: Division of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan. nagoyta-1st.jrc.or.jp
authors: Nobuhiro
authors: N
authors: Watanabe
authors: Ayami
authors: A
authors: Yoshimi
authors: Yoshiro
authors: Y
authors: Kamachi
authors: Takashi
authors: T
authors: Kawabe
authors: Hideki
authors: H
authors: Muramatsu
authors: Kimikazu
authors: K
authors: Matsumoto
authors: Atsushi
authors: A
authors: Manabe
authors: Seiji
authors: S
authors: Kojima
authors: Koji
authors: K
authors: Kato
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D015479:Leukemia, Myelomonocytic, Acute / Q000175:diagnosis*; D008297:Male; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis* / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics
chemical_list: D051316:Wiskott-Aldrich Syndrome Protein