AASE SYNDROME

DEFINITION

A disorder characterized by congenital hypoplasic anemia and triphalangeal thumbs.

EPIDEMIOLOGY

1. incidence: rare
2. age of onset:
3. newborn (anemia)
4. risk factors:

• familial - autosomal recessive
• chrom.#: ?
• gene: ?

PATHOGENESIS

one of at least 3 autosomal recessive syndromes associated with hematopoietic and skeletal anomalies.

other syndromes:

• Fanconi Anemia
• Thrombocytopenia-Absent Radius (TAR) Syndrome
• etiology is unknown but is considered to be one of at least 3 disorders where there is a congenital deficiency in erythroid precursors
• other congenital single cytopenias:
• Diamond-Blackfan Syndrome
• Congenital Dyserythropoietic Anemia

CLINICAL FEATURES

1. Anemia

• onset in newborn period but tends to improve with age
• pallor and lethargy

2. Musculoskeletal Manifestations

• short stature
• triphalangeal thumbs with mild radial hypoplasia
• narrow shoulders
• late closure of fontanelles

3. Others

cardiac anomalies - VSD

INVESTIGATIONS

a. Serum

• Hb: normocytic or macrocytic, increased HbF, low reticulocytes
• variable leukopenia

b. Imaging Studies. Skeletal X-rays : upper limbs and thumbs

c. Chromosomal Breakage Analysis : normal

MANAGEMENT

Supportive

• steroids (prednisone) and/or PRBC transfusions
• anemia tends to improve with time