This rare blood disorder is characterized by severe chronic neutropenia.
Symptoms associated with severe chronic
neutropenia include recurring fevers, mouth ulcers, and periodontitis.
Life-threatening recurrent infections are common complications that may last
for months or years and can affect both children and adults.
Kostmann Disease; Severe Neutropenia Syndrome; Infantile Agranulocytosis;
Congenital autosomal dominant (or sporadic) neutropenia.
It is estimated to affect approximately 2000 to 5000 individuals in the
United States. Severe chronic neutropenia may
be inherited as an autosomal dominant or an autosomal recessive genetic
trait. It can be acquired or may be idiopathic for unknown reasons. It
affects males and females equally. Both children and adults can be affected.
The three main forms are congenital, idiopathic, and cyclic neutropenia. Congenital
forms are typically apparent at birth or during early childhood and are considered the
most severe form. Chronic idiopathic neutropenia usually affects adults. However,
in some cases, the disorder has been demonstrated during childhood, but remains clinically
undetected until adulthood. Cyclic neutropenia in most cases is thought to be
present at birth. However, in some cases, symptoms may not become apparent until
childhood, adolescence, or even early adulthood. The disorder may also be acquired.
Congenital forms of severe chronic neutropenia: Characterized by fevers, recurrent pneumonia, ear infections, gingivitis,
and stomatitis. Periodontitis is often present. Recurrent oral ulcerations
are common. Bacterial infections often affect the skin, gastrointestinal
tract, and respiratory system and can be life-threatening. The most severe
form of congenital neutropenia is known as Kostmann Syndrome.
Treatment of Kostmann Syndrome consists of G-CSF for life. Some patients unfortunately may
progress to myclodysplastic syndrome or acute myelogenous leukemia under this G-CSF therapy.
Chronic idiopathic neutropenia: Symptoms are less severe than those observed with congenital neutropenia;
however, infections may also be life-threatening.
Cyclic neutropenia: Severe chronic decrease of neutrophils, presenting as episodes recurring on
an average every 21 days and lasting for approximately 3 to 6 days. The
cycling period usually remains constant and is consistent among affected
A complete blood count should be obtained for all these patients prior to anesthesia.
Meticulous attention to sterility and
asepsis is mandatory. Appropriate antibiotics must be used for all surgical
procedures, including laryngoscopy and tracheal intubation.
Several drugs (and other chemicals) may induce neutropenia/agranulocytosis in even healthy
people. It seems therefore reasonable, to avoid these drugs in these patients. Some of
these drugs include chemotherapeutics, antimicrobials (macrolides), non-steroidal
anti-inflammatory drugs, antipsychotics, antithyroid drugs, anticonvulsants,
antihistamines and many more.
Fujiu T, Maruyama K, Koizumi TL Early-onset group B streptococcal sepsis
in a preterm infant with Kostmann syndrome. Acta Paediatr
Zetterstrom R: Kostmann disease-infantile genetic agranulocytosis:
Historical views and new aspects. Acta Paediatr