Stormorken syndrome: Confirmatory report in a French family. G. Morin1, A. Hazard1, B. Roméo2, B. Demeer1, A. G. Le Moing1, J. C. Capiod3, E. Bourges-Petit4, H. Sevestre5 1) Clinical Genetics, Amiens University Hospital, France; 2) Pediatric Pneumology, Amiens University Hospital, France; 3) Hematology, Amiens University Hospital, France; 4) Pediatric Cardiology, Amiens University Hospital, France; 5) Pathology, Amiens University Hospital, France.
In 1985, Helge Stormorken reported a new syndrome associating thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. This affection segregated in a Norvegian family with an apparent autosomal dominant transmission on 4 generations. The physical characteristics were documented in a teen-aged boy and his mother: small stature, deep set eyes, high and arched forehead, permanent miosis without efficiency of mydriatic drugs and decreased darkness vision. A bleeding tendency was demonstrated, including hematomas, frequent nose bleedings but no major hemorrhagic accident. Hematologic investigations exhibited consistently prolonged bleeding time, normal coagulation, presence of giant platelets and various abnormal forms of red cells with Howell-Jolly bodies in the peripheral blood. The spleen was absent in both patients explaining the post-splenectomy aspect of the red cells. The muscular defect consisted in limitation during physical exercise and an abnormally increased duration of muscle response. Ichthyosis was mainly located in the extremities. Both patients suffered from headaches with photophobia. Dyslexia was early diagnosed for the affected son, responsible of learning disability, but less severe for his mother. From that time, this disease was only reported in a Japanese mother and daughter, who both presented muscle weakness, moderate increasing of creatine kinase rates and thrombocytopenia. Muscle biopsy showed fibre necrosis and regeneration, variation in fibre size, and tubular aggregates in approximately 5% of the fibres. We report the observation of a young boy and his father. At 17 days of life the baby presented an urticaria-like eruption on the face and the lower limbs. Blood count revealed thrombopenia (48000/mm3) but the myelogram was normal. During the hospitalization, he presented an episode of supraventricular tachycardia requiring a treatment with acebutolol and amiodarone. The father had small stature (157cm), high pitched voice, chronic eruption of the arms and shoulders partially regressive after anti-mycosic treatment, and a severe but reactive miosis responsible of impairment of darkness vision. He also presented asplenia and moderate thrombocytopenia (97000/mm3). At the age of 2 years and half, a less severe miosis became more apparent in the son. Peripheral blood examination revealed anisocytosis, the presence of macrothrombocytes, Howell-Jolly bodies and prolonged bleeding time.