Wiskott-Aldrich Syndrome with Macrothrombocytopenia.

Background: Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with a variable phenotype. Case Characteristics: 3.5-year-old boy diagnosed with Wiskott- Aldrich syndrome. Observation: Unusual and persistent thrombocytopenia with increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory finding for the syndrome. Outcome: Maternally inherited causative mutation in the exon 2 of the WAS gene was disclosed. Message: This is a need for multidisciplinary assessment of patients with congenital or early infantile thrombocytopenia, including testing for mutations of the WAS gene in all unexplained cases even in the absence of characteristic microthrombocytopenia.

Early Presentation of Neuromyelitis Optica.

Neuromyelitis optica is a rare autoimmune demyelinating disease of the central nervous system in childhood. Its relapsing form is usually reported in adults. We report a 3-year-old girl with relapsing, IgG seropositive neuromyelitis optica. Initially she presented with optic neuritis, followed by three relapses with deterioration of optic neuritis and developing transverse myelitis. With each relapse, the treatment was less effective. Four years after the onset of the disease, the patient was blind, had paraplegia associated with urinary and bowel incontinence and short stature.