Abstract: FR-PO622
Renal Manifestation in a Patient with Seckel Syndrome: An Interdisciplinary Challenge
Session Information
- Trainee Case Reports - IV
October 26, 2018 | Location: Exhibit Hall, San Diego Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Trainee Case Reports
- 1002 Genetic Diseases of the Kidney: Non-Cystic
Authors
- Stopfkuchen, Henrike, University Hospital Essen, Essen, Germany
- Büscher, Anja K., University Hospital Essen, Essen, Germany
- Finkelberg, Ilja, University Hospital Essen, Essen, Germany
- Hoyer, Peter F., University Hospital Essen, Essen, Germany
- Büscher, Rainer, University Hospital Essen, Essen, Germany
Introduction
Seckel syndrome (SCKL) ist the extremly rare manifestation of an proportionate dwarfism, presenting with microcephaly, osteodysplasia, bird head-like appearance and psychomotorical retardation. Approximately 20 cases worldwide are described. This genetically heterogeneous syndrome ist inherited autosomal-recessive and the gene located on chromosomal region 3q22.1-q24 (OMIM no. 210600). A renal manifestation is not described so far.
Case Description
We present the case of a 34 years old Lebanese woman diagnosed with Seckel syndrome in early childhood. Parents are first degree relatives. Intrauterine growth retardation was observed, several other family members are diagnosed with unclear dwarfism, but nobody else with Seckle syndrome. Birth weight was 1500 g (< 3rd percentile, gestational age 36 weeks). Besides the typical stigma of the syndrome, the patient did well and the family doctor in Lebanon was not seen on a regular basis. A chronic Hepatitis B infection remained clinically unapparent and was not treated. The family moved to Germany when the girl was 16 years old. The patient was first seen in our hospital at the age of 34 years presenting with a first transitorily ischemic attack and dexter hemiparesis. Further laboratory results revealed a so far unapparent chronic renal failure. Kidneys were dysplastic with volumina of 17 and 23 ml. Due to the low weight of 15.0 kg and a height of 107.6 cm, peritoneal dialysis was initiated by the paediatric dialysis department. Besides several internal, neurological and gynecological ailments such as progessive heart failure and dysmenorrhea, the patient remained under paediatric care due to the habit. Continuous cyclic peritoneal dialysis was continued for 5 years, the patient did well and was listed as kidney recipient with Eurotransplant. A second ischemic attack and severe heart failure with shortening fraction < 10% occured in April 2018 and the patient passed away few days later.
Discussion
Take-away lesson: Regardless the age, treatment of multi-morbid patients with rare diseases is an enormous interdisciplinary challenge. Preservation of quality of life has highest priority and needs individual definitions and solutions.