We read with great interest the article from Yuldashev et al.1) describing orthopedic manifestations of type I Camurati-Engelmann Disease (CED). Considering the rarity of this disorder (to date around 300 affected individuals have been reported),2) we would like to share a case report of a Brazilian patient diagnosed with CED. To the best of our knowledge, this is the fourth Brazilian patient described with this disorder.34) In 2005, Castro et al.3) reported two female Brazilian patients with typical presentation of severe CED whose treatment with bisphosphonates failed to add any improvement beyond that elicited by corticosteroids alone. Uezato et al.4) described a 35-year-old female Brazilian patient with generalized body pain, mainly in the lower limbs, weakness, reduced muscle strength, staggering gait and use of hearing aids. Radiographs and magnetic resonance imaging confirmed CED diagnosis.

We evaluated a 7-year-old Brazilian boy, first son of a young, nonconsanguineous and healthy couple. His younger brother was also healthy. There were no genetically relevant data in family history. Gestation went without significant clinical intercurrences. Prenatal ultrasounds were normal. He was born at term, vaginally, cephalic presentation, weighing 3,750 g (between 50th and 90th percentile), measuring 50 cm (50th percentile). He was discharged with his mother. Neonatal screening test was negative. Patient had an adequate psychomotor development and normal intelligence. At approximately 2 years old, he began complaining of lower limbs pain and difficulty walking long distances. There was no history of fractures. Physical examination showed normal weight, height, and head circumference for age and sex, shallow orbits, epicanthal folds, malar hypoplasia, long and poorly marked nasolabial filter, cubitus valgus, flat feet, diminished subcutaneous fat, muscular hypotrophy and ataxic gait with broad base. Ophthalmologic evaluation was normal. Audiometry confirmed bilateral conductive hearing loss. Radiographs of lower limbs showed cortical thickening of the mid-proximal diaphysis of the fibulae and tibias and mid-distal of the femurs. Magnetic resonance imaging showed bilateral and symmetric bone density increase, involving the diaphysis of femurs, tibias and fibulae. Computed tomography of mastoid/ears evidenced reduction of aeration with increased bone density of mastoids bilaterally. Molecular testing for TGFB1 was not performed in our patient. This case was discussed with the International Skeletal Dysplasia Registry Group (Cedars-Sinai Medical Center) due to the rarity of the disease and CED clinical diagnosis was made when the patient was 7 years old.

Considering the mode of presentations groups described by Yuldashev et al.,1) we were not able to define if our subject can be categorized as group I (patients who mainly presented with motor disturbances in young age) or group II (patients who mainly presented with limb pain). The authors' group I patients started with motor disturbances and then developed limb pain, while our patient presented first with limb pain. Diagnosis of CED in group I was made at 6 to 29 years of age, which is consistent with the diagnosis of our subject. On the other hand, group II had three patients who mainly presented with limb pain and the ages of diagnosis were different from our patient (15–54 years old vs. 7 years old). It would be interesting to know the authors' opinion on this matter.

We agree when Yuldashev et al.1) state that awareness of CED may be the key to timely correct diagnosis and that CED, especially in childhood, can mislead doctors to consider neuromuscular disorders. Also, we believe that multicentric trials are needed in order to search for effective therapeutic options.