Wiskott-Aldrich syndrome is an important differential diagnosis in male infants with juvenile myelomonocytic leukemialike features.
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.
Watanabe
Nobuhiro
N
Division of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan. nagoyta-1st.jrc.or.jp
Yoshimi
Ayami
A
Kamachi
Yoshiro
Y
Kawabe
Takashi
T
Muramatsu
Hideki
H
Matsumoto
Kimikazu
K
Manabe
Atsushi
A
Kojima
Seiji
S
Kato
Koji
K
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
D051316:Wiskott-Aldrich Syndrome Protein