The Case of the Creative but Crippled Count

Albert B. Lowenfels, MD


August 02, 2012

The Case

The patient was a 37-year-old male artist who died during a visit to his parents, who lived only a few miles away from his birthplace.

Medical and Personal History

As a child, the patient had been intelligent, but he was fragile and sickly and could not participate in sports and games with his friends. At age 13 years, after a minor injury, he sustained a fracture of the shaft of the right femur; the following year, again with minimal trauma, he fractured his left femur. His legs did not grow after these bilateral femoral fractures.

As an adult, the patient was very short, about 5 feet tall, as a result of the growth retardation in his lower extremities. His upper body and head were normal in size. He had a protruding lower jaw, and he was troubled by dental caries and persistent sinus problems. He had also experienced precocious puberty.

The patient was known to be promiscuous, frequently visiting brothels. He also had a drinking problem that persisted throughout his life. At age 35 years, after several episodes of alcohol-associated hallucinations, he was institutionalized. Within a few weeks of being released from a sanatorium, he began drinking again, and within the following 2 years he had 2 minor strokes.

During the last few months of his life, the patient lost a great deal of weight. His friends noted that he had become "skin and bones," resembling a skeleton. A few weeks before his death, he had a major stroke that left him paralyzed from the waist down. He died coherent but physically incapacitated.

Family History

The patient's mother and father were first cousins and were apparently healthy. Both were living at the time of the patient's death. He had a younger brother who died at 1 year of age. Three cousins had dwarfism.


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