Table 1 (abstract P041). See text for description
From: Proceedings of the 28th European Paediatric Rheumatology Congress (PReS 2022)
Case | 1 | 2 | 3 |
|---|---|---|---|
Age /Sex | 18m/ F | 8y/M | 7y/M |
Height/Weigh | 84.5 cm/ 10.3kg | 117cm/19kg | 115cm/18.3kg |
Duration of complaints (months) | 6 | 12 | 36 |
Diagnosis | CIPA | CIPA | Traumatic peroneal neuropathy |
ESR(mm/hr) | 30 | 98 | 68 |
CRP(mg/dL) | 12.5 | 26.8 | 336 |
X ray | Fluid distension- subacromial sub deltoid bursa Osseous fragmentation Calcinosis | Sclerosis Bone fragmentation | Chronic osteomyelitis in left tibia Valgus deformity |
MRI | Bilateral humeral head fractures Metaphyseal marrow edema Joint effusion. | Intramedullary collection- tibial distal metaphysis Moderate marrow edema Ankle joint effusion Tenosynovitis | Osteomyelitis tibia. Marrow edema tarsal bones Left tibiotalar chronic synovitis |
EMG/NCV | Not done | Asymmetric, axonal peripheral sensory neuropathy- Bilateral. Peripheral motor neuropathy- left lower limb. Absent sympathetic skin response | Severe axonal left deep, superficial peroneal motor neuropathy |
Genetic Evaluation | Pathogenic homozygous mutation NTRK1 gene Exon 1 c.97delG (p.Ala33ProfsTer36) | Double heterozygous missense mutation NTRKI gene (NTRK1):c.1787G>A (p.Arg596Gln)Exon 16 Chromosome 1 (pathogenic) (NTRK1):c.2263C>T (p.Arg755Trp) Exon 13 (VOUS) | Not done |