A Forgotten Disease Presenting with Pseudoparalysis, Petechiae and Spontaneous Gingival Bleeding in a 3-Year-Old Toddler

 

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Case presentation

A 3-year-old previously healthy Caucasian boy with a history of non-weight bearing since one week presented to our emergency department. The parents did not report pain at night or at rest or fever. He had suffered from spontaneous gingival bleedings for several days and intermittent nose bleedings for several months. A detailed dietary history revealed a fussy eater with a restricted diet entirely based on cow’s milk with dissolved cookies. He was growing appropriately on the 75^th percentile. His parents and siblings were well.

Clinical examination revealed spontaneously semiflexed hips and knees and, bilateral swelling of knees with no appreciable effusion. He had bilateral leg weakness with unwillingness to move his knees or hips with painful but full passive range of movement. He walked with a limp, and could not stand up without support or climb the stairs. The muscular reflexes of the lower limbs were normal. He presented multiple small petechiae on the legs, swollen gums with multiple haemorrhages and spontaneous gingival bleeding at the gingival line ([Fig. 1]).

Vital parameters were normal. Laboratory evaluation revealed slightly elevated inflammatory markers (c-reactive protein 13 mg/L, blood sedimentation rate 23 mm/h) and severe vitamin D deficiency (<25 nmol/L). Apart from hypochromic microcytic red blood cells (MCV 69 fL, MCH 24 pg) his blood film was normal (Hb 113 g/L, Ery 4.78 T/L, WBC 10.7 G/L, Plt 299 G/L). He had normal creatine kinase (77 U/L) and coagulation status (INR 1.06, aPTT 29.7 sec). Sonographically there was no evidence of a hip or knee joint effusion. The radiograph of the backbone showed no evidence of tumorous change or fracture. An MRI of the spine, pelvis and proximal lower extremities revealed multiple osseous hyperintense lesions within both proximal femur metaphyses, the right acetabulum, os ischium and right distal femur metaphysis and signs of subperiosteal hemorrhage ([Fig. 2]). Initial differential diagnosis was broad and included osteomyelitis, spondilitis, muscular origin, rheumatological disease, or metabolic bone disease.

He was admitted to hospital for a trial of analgesia, which showed minimal response. After interdisciplinary discussion, the clinical findings combined with the restricted diet and MRI patterns led to the suspicion of a severe nutritive vitamin C deficiency, which was confirmed by an undetectable vitamin C level (<5 µmol/l, normal range 26–97 µmol/l). An empirical treatment with 200 mg oral vitamin C daily was started, which led to a full recovery of gingival hyperplasia and bleeding within three days and improvement of walking within five days. For his feeding difficulties the boy was enrolled in a feeding program and was discharged from the hospital after two weeks. After four weeks of supplementation vitamin C level returned to normal (61.3 μmol/l) and supplementation was successfully discontinued.

Publication History

Article published online:
27 February 2023

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