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In a recent study, researchers from Radboudumc’s Department of Pediatrics have presented high-resolution nerve ultrasound findings of patients with Noonan syndrome (NS) and related disorders who are experiencing pain in their legs. Their findings, published in the European Journal of Pediatrics on August 1, 2023, suggest a potential link between pain and nerve hypertrophy (an abnormal enlargement of nerve tissue).
NS and related disorders are a group of genetical related disorders characterized by a distinct pattern of multisystem involvement. Main features are congenital heart disease, development delay, facial dysmorphism and short stature. Even though frequently reported, pain is not considered as one of them. Moreover, the cause of this pain is unknown, leaving patients and families feeling unheard, unsupported and searching for answers. Motivated by the desire to improve quality of life, the research team, led by Jos Draaisma, pediatrician at Radboudumc, decided to delve deeper into this complaint.
Children often describe pain as myalgia, leading to the pain being (mis)interpretated as growing pain. Other causes, such as neuropathic pain might be easily overlooked. Therefore, in addition to anamneses and physical examination focused on neurological symptoms and signs, Draaisma opted to conduct high-resolution nerve ultrasound. The results were eye-opening: in all patients hypertrophic neuropathy was found.
Included are the high-resolution nerve ultrasound findings from one participant included in this study (C and D) in comparison to a healthy control individual (A and B). This 10-year old female, diagnosed with NS and multiple lentigines, experienced pain in both the upper and lower extremities. The upper panel illustrates the cross-sectional areas of the proximal sciatic nerve. The lower panel illustrates the same for the distal sciatic nerve, both of which reveal severe hypertrophic neuropathy.
These findings represent a significant step forward understanding NS and related disorders. However, further researched is needed (and already is underway!) to assess whether there is a genuine association between pain and the presence of hypertrophic neuropathy. By doing so, the research team aims for better understanding, refining diagnostics and exploring possible therapeutic options.
We would like to congratulate the research team on receiving an Early Stage Investigator Award at the 8th International RASopathies symposium in Denver!
Read the publication here
Draaisma F, Erasmus CE, Braakman HMH, Burgers MCJ, Leenders EKSM, Rinne T, van Alfen N, Draaisma JMT. Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders. Eur J Pediatr. 2023 Aug;182(8):3789-3793. doi: 10.1007/s00431-023-05045-6. Epub 2023 Jun 5. PMID: 37272991; PMCID: PMC10460360.
