The challenge in hidden treasures: A never ending story
β Scribed by Hennekam, Raoul C.M.
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 57 KB
- Volume
- 126A
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
β¦ Synopsis
is one of those exceptional persons who are able to be brilliant in two fields: pediatric neurology and metabolic disorders. Peter started to work as a general pediatrician in Amsterdam, but rapidly he developed special skills in pediatric neurology which gradually led him to a prominent position in the Dutch neurology world. Together with three other colleagues (Christa Loonen, Boudewijn Peters, and Paul Fleury) he became the Dutch founder of the separate speciality located between Neurology and Pediatrics, Pediatric Neurology, which was eventually erected in 1980. But Peter had a second love: metabolic disorders. His early work together with Van Wijngaarden on X-linked myotubular myopathy was followed by many more studies, of which the 1983 article on an X-linked disorder that involved heart, skeletal muscles, and neutrophilic leucocytes, and with disturbance of mitochondrial functioning, has become the best known. The entity was later named after him: Barth syndrome (MIM 302060).
From early on Peter had a deep interest in clinical genetics, and he was author or co-author of many articles on chromosomal anomalies, malformations of the central nervous system, muscular dystrophies, different forms of arthrogryposis, and many monogenic disorders. But again (neuro) metabolic disorders were prominently present in his work: especially the co-operation with Ronald Wanders and coworkers from the Metabolic Laboratory in the Academic Medical Center in Amsterdam led to a series of articles on peroxisomal and mitochondrial disorders, of which adrenoleukodystrophy should be mentioned as a major topic. In addition, Peter was also able to perform his own neuropathologic examinations. The results of his meticulous studies were widely published and appreciated, and he became one of the most renowned specialists on cortical dysplasias. Recently, his knowledge became evident again in his editorship of a monograph on Disorders of Neuronal Migration.
No matter what subject he was working on, Peter's work was always very careful and thorough, and this was also reflected in his patient care. Parents may have thought him to be a man that was difficult to reach at first, but many changed their view when they learned his compassion and dedication to the problems of their child, and their child itself.
In November 2002, a symposium was organized to commemorate this, and to honor Peter Barth at the time of his 65th birthday.
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