Noonon syndrome as unlikely cause of increased bruising in a case of suspected battered child syndrome

Objective On a regular basis, children are referred to our hemostaseology center because of increased bruising in order to rule out bleeding disorders. Usually diseases like hemophilia or Willebrand syndrome, as well as thrombozytopathy or thrombozytopenia, or other selective factor deficiencies are examined.

Failing to find a clinical explanation for excessive bleeding cases great concern in all caretakers. This may have great impact on the child’s course of life.

Aim: Raise awareness for uncommen causes of bleeding in children with increased bleeding signs.

Material and Methods We report on a 1.5-year-old Asian boy who presented to our center for a coagulation workup prior to planned orchidopexy.

At the time of the presentation, the boy was living with his older brother in a welfare home due to suspicion of child endangerment.

Results Socialmedical history included: Poor bonding between mother and child, failure to thrive, psychomotor developmental delay, calotte fracture with subgaleal hematoma after a fall from the parental bed and constant extensive bruising, especially on the head without known trauma. No further relevant bleeding signs. Transcutaneous heart catheter intervention including balloon valvuloplastie of the pulmonary valve was performed without bleeding complications. The boy was hospitalized several times due to apathy and refusal to eat.

After being taken into custody his development picked up. However extensive bruising persisted.

Regular hematological work up revealed Delta Storage Pool disease, prolonged in vitro bleeding time and FIX at the lower limit of age-adjusted reference values (59%). This did not satisfyingly explain his bruises. Considering all his symptoms, a whole genome analysis was performed. It revealed a typical gene variation for Noonan’s syndrome. Easy bruising is common for patients with Noonan´s syndrome without any noticeable lab finding. FVII deficiency has been reported in patients with Noonan´s Syndrome but was not found in our patient.

Conclusion Noonan´s Syndrome explains our patient’s phenotype. If regular hemostaseological work up fails to provide a reason for bleeding and hints of a syndromic disease are present; extended examinations including genetics should be considered.

Publication History

Article published online:
18 June 2021