1 - Department of Paediatrics, Hospital of Divino Espírito Santo, Ponta Delgada E.P.E., 9500-370 Ponta Delgada, Azores, Portugal;
2- Physical Medicine and Rehabilitation, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.;
3- Department of Neuropediatrics, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, E.P.E.
- Case Rep Pediatr 2012:382657.
Hereditary neuropathy with liability to pressurepalsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left handdrop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis.
Key-words: hereditary neuropathy, pressure palsy, hand drop.