Neuropediatrics 2018; 49(S 02): S1-S69
DOI: 10.1055/s-0038-1675969
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Georg Thieme Verlag KG Stuttgart · New York

P 564. Psychosocial Surrounding as an Important Influencing Factor with Hereditary Sensory and Autonomic Neuropathy—Two Case Reports

Cornelia Köhler
1   Katholisches Klinikum Bochum, Klinik für Kinder- und Jugendmedizin, Bochum, Germany
,
Sabine Hoffjan
2   Ruhruniversität Bochum, Humangenetik, Bochum, Germany
,
Christine Decker
1   Katholisches Klinikum Bochum, Klinik für Kinder- und Jugendmedizin, Bochum, Germany
,
Charlotte Thiels
1   Katholisches Klinikum Bochum, Klinik für Kinder- und Jugendmedizin, Bochum, Germany
,
Thomas Lücke
1   Katholisches Klinikum Bochum, Klinik für Kinder- und Jugendmedizin, Bochum, Germany
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Publikationsverlauf

Publikationsdatum:
30. Oktober 2018 (online)

 

Background: Hereditary sensory and autonomic neuropathy (HSAN) is characterized by loss of autonomic function, absent pain sensation, and often associated with cognitive developmental delay. A diagnostic clue is the presence of poorly healing wounds especially on the extremities and auricles in combination with anhidrosis. The course of the disease may be complicated by secondary destruction of soft tissue with chronic osteomyelitis leading to amputation.

Methods: We report the cases of two boys, at the age of 6 and 3 years with mental retardation and poorly healing wounds on fingers and auricle. The additional anhidrosis led to the diagnosis of HSAN with an autosomal dominant missense mutation on the SPTLC1 gene.

In the case of a 3-year-old boy, the wounds were misinterpreted as child abuse in the first place. However, on the contrary, a caring and cautious surrounding was able to prevent complications due to the tissue damage so far.

In the case of a 6-year-old boy—son of immigrants from Afghanistan—the healing process was complicated due to absent caring capacity of the parents. The patient has, as of now, a lengthy course of tissue destruction with impending amputation of his left arm.

Summary: The rare HSAN leads to extensive chronic tissue destruction. The family background and the caring capacity of the attachment figure have a major impact on the course of the disease.