Skeletal Radiol DOI 10.1007/s00256-014-2093-1

CASE REPORT

Osteoskeletal manifestations of scurvy: MRI and ultrasound findings Ahmet Veysel Polat & Tumay Bekci & Ferhat Say & Emrah Bolukbas & Mustafa Bekir Selcuk

Received: 29 September 2014 / Revised: 20 December 2014 / Accepted: 25 December 2014 # ISS 2015

Abstract Scurvy has become very rare in the modern world. The incidence of scurvy in the pediatric population is extremely low. In the pediatric population, musculoskeletal manifestations are more common and multiple subperiosteal hematomas are an important indicator for the diagnosis of scurvy. Although magnetic resonance imaging findings of scurvy are well described in the literature, to our knowledge, ultrasound findings have not yet been described. In this article, we report a case of scurvy with associated magnetic resonance imaging and ultrasound findings. Keywords Scurvy . Magnetic resonance imaging . Ultrasound

Introduction Scurvy is a rare disease that manifests with collagen defects caused by lack of vitamin C (ascorbic acid). Since vitamin C synthesis does not occur in the human body, the amount of vitamin C taken in with the diet is critical. Advances in nutritional understanding have caused scurvy to become rare in the modern world, with an only slightly higher incidence in the pediatric population. Although it is extremely rare in A. V. Polat (*) : T. Bekci : M. B. Selcuk Department of Radiology, Faculty of Medicine, Ondokuz Mayis University, Kurupelit, 55139 Samsun, Turkey e-mail: [email protected] F. Say Department of Orthopaedics and Traumatology, Faculty of Medicine, Ondokuz Mayis University, Kurupelit, 55139 Samsun, Turkey E. Bolukbas Department of Pediatrics, Faculty of Medicine, Ondokuz Mayis University, Kurupelit, 55139 Samsun, Turkey

developed societies, scurvy can be seen in economically underdeveloped societies, in alcoholics and in patients with developmental or mental retardation [1]. Since it is rare and presents with nonspecific symptoms, scurvy is difficult to diagnose, and it can affect different organ systems in different phases of the disease [2]. The initial symptoms of scurvy are nonspecific; they include lethargy, diarrhea, tachypnea, fever, and malaise [3]. Patients with a vitamin C deficiency lasting for more than 3 months tend to suffer from hemorrhagic diathesis, anomalies in bone maturation, epiphyseal diseases, hemarthrosis, and subperiosteal hemorrhage [1]. Musculoskeletal symptoms that develop as a result of collagen defects caused by vitamin C deficiency are seen in patients with a rate of 80% [4]. Musculoskeletal symptoms are the primary manifestation of scurvy in the pediatric population, and magnetic resonance imaging (MRI) is the screening modality that is generally used in the diagnosis of this condition [1]. While MRI findings of scurvy have been described in a few patients, to our knowledge its ultrasound findings have not. In this case report, our purpose was to present the ultrasound and MRI findings of a scurvy patient who presented with musculoskeletal symptoms.

Case report A 6-year-old female patient, who had previously been diagnosed with West syndrome, was referred to our hospital with an initial diagnosis of Henoch–Schönlein purpura (HSP) vasculitis. West syndrome is a severe epileptic syndrome composed of a triad of infantile spasms, an interictal electroencephalogram pattern termed hypsarrhythmia, and mental retardation. The patient had been admitted to a local hospital 3 weeks earlier with swelling at both knee joints. She was referred on to our hospital after she began to show bruises on her body. Upon physical examination, the patient was

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found to have purpura on some parts of her body, swellings at both knees and her left wrist, gingival bleeding, and nose bleeding. She was not found to have any organomegaly. The family stated that she had been suffering from gingival bleeding for the last 3 weeks, and she had had some nose bleeds since her birth. The findings were not indicative of child abuse. The patient was being given levetiracetam, lamotrigine, and clobazam for her West syndrome. She was not using an anticoagulant. The dietary history was significant inasmuch as she was consuming only soup. On admission, the patient’s vital signs were documented as follows: oral fever 37 °C, heart rate 88/s, blood pressure 111/78 mm/Hg, respiratory rate 20/min, and oxygen saturation 99 % in ambient air. Laboratory tests revealed a total leukocyte count of 8,600/μL, a hemoglobin level of 7.3 g/dl, and a platelet count of 524,000/μL; PT, PTT, INR, serum iron, fibrinogen, ferritin, folic acid, vitamin B12, factor 13, RF, ANA, c-ANCA, p-ANCA, and indirect coombs all had normal values. No proliferation was seen in urine, throat and blood cultures. An infectious etiology was not considered. A biopsy was taken from the patient’s ecchymotic skin areas with an initial diagnosis of HSP vasculitis. However, the pathology result was normal and immunofluorescence microscopy was negative for IgG, IgA, and IgM. Radiographs of the thighs showed dense, linear calcifications in the distal metaphysis and in the soft tissues surrounding the bone (Fig. 1a). Ultrasound was then performed to investigate the etiology of

Fig. 1 a Radiographs of both thighs show dense, linear calcification in the distal metaphysis “white line of Frankel” (arrows) and subperiosteal hemorrhage (curved arrows). b On the axial color Doppler ultrasound image of the left distal thigh, c on the sagittal gray-scale image of the right thigh, and d in both iliac bones, heterogeneous hypoechoic lesions, compatible with subperiosteal hemorrhage (asterisks), were seen, with no vascularity on color Doppler ultrasound (arrowhead indicate the periosteum)

the swellings on knees and left wrist by using the Toshiba Aplio XG SSA-790A (Toshiba Medical Systems Corporation, Otawara, Japan) with a 12-MHz linear transducer. The ultrasound revealed a subperiosteal hypoechoic thickening that covered both distal femoral diaphyses (Fig. 1c). A further color Doppler ultrasound examination did not show vascular color fills in the subperiosteal hypoechoic thickening (Fig. 1b, d). These findings suggested subperiosteal heterogeneous echogenic effusion. A malignant lesion was not considered, since no color fills were found on the Doppler ultrasound. Effusion was not found in the joint spacing. An MRI using the 1.5-T Siemens Symphony system (Siemens Medical Solutions, Erlangen, Germany) was performed to confirm the diagnosis. This MRI examination showed signal increases in the T1weighted and T2-weighted images in accordance with subperiosteal hemorrhage on both distal femoral diaphyses and both iliac bones (Fig. 2), and in the covering soft tissue and muscle structures. There were diffuse signal anomalies in the bone marrow in the distal femoral metaphyseal–diaphyseal area and in both iliac bones. Clinical and radiological findings suggested scurvy in the patient. Laboratory test results revealed that the vitamin C level was 0.06 mg/dL (reference range: 0.5– 1.8 mg/dL). A diagnosis of scurvy was confirmed and the child was started on a vitamin C-rich diet and 300 mg/day ascorbic acid treatment. On the third day of the treatment, the patient’s gingival bleedings stopped,

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Fig. 2 a There were diffuse bone marrow signal changes and moderate enhancement in the distal femoral metaphyseal–diaphyseal and epiphyseal areas, and in the surrounding soft tissue on the coronal, contrast-enhanced, fat-suppressed T1-weighted images. Signal increases were observed in parallel with subperiosteal hemorrhage (asterisks) in both distal femoral diaphyses on b T2-weighted and d T2-weighted fatsuppressed axial images, c T1-weighted sagittal images, and in both iliac

bones on e axial fat-suppressed T2-weighted images. The marrow changes appeared as heterogeneous low and high signal intensities on T1weighted images, and as heterogeneous high signal intensity on T2weighted images. In both iliac bones, heterogeneous signal increases were seen in the subperiosteal area on axial fat-suppressed T2-weighted images, which was compatible with subperiosteal hemorrhage (asterisks; e). Arrowheadindicates theperiosteum)

and the ecchymoses disappeared in the first week. A control ultrasound was planned for the patient 4 weeks later. The control ultrasound and radiographs showed almost total resorption of the subperiosteal hemorrhage and subperiosteal calcifications (Fig. 3). The family was instructed with regard to proper dietary management.

Discussion

Fig. 3 a Four weeks later, after the treatment, follow-up radiographs of both knees demonstrated a characteristic periosteal reaction caused by calcification of the subperiosteal hemorrhage (curved arrows). The resorption of subperiosteal hemorrhage (asterisks) and calcification (arrow) that occurred in this area, following the treatment, are seen on b the axial left and c the sagittal right images d Resorption of subperiosteal hemorrhage (asterisks) and calcifications (arrows) are seen in the iliac bone during follow-up US examination

Vitamin C absorption occurs in the ileum; it is not stored in the body, and its daily minimum intake must be 10 mg/day [5]. Infants fed with evaporated or boiled milk in which the ascorbic acid has been destroyed by heat, and children with a

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developmental or psychological disorder who have a vitamin C-poor diet, are at risk of developing scurvy [6]. In our case study, the child was both mentally and motor disabled because of West syndrome. Furthermore, she was fed on only soup; therefore, scurvy developed owing to insufficient vitamin C intake. Scurvy is a rare disease, is difficult to diagnose, and has nonspecific symptoms. Scurvy can affect different organ systems during different phases of the disease, resulting in a wide spectrum of symptoms with potential diagnoses that could include hematological disease, vasculitis, infections, side effects of medicine, ulcerative gingivitis, collagen vascular diseases, deep venous thrombosis, vitamin deficiencies, and trauma [2]. Musculoskeletal manifestations occur in 80 % of patients with scurvy; these include arthralgia, myalgia, hemarthrosis, muscular hemorrhage, and subperiosteal hemorrhage. In general, these problems are far more common in the lower extremities than in the back and upper extremities. The most commonly affected area is the knee [7]. Musculoskeletal manifestations of scurvy are more common in children when both growth and regeneration occur quickly [1]. Magnetic resonance imaging findings in scurvy have been described in the medical literature. Heterogeneous signal changes in the bone marrow are seen on T1 and T2 sequences as well as subperiosteal hemorrhage and surrounding edema. To our knowledge, ultrasound findings of scurvy have not been documented in the medical literature [8]. Recurrent and multiple subperiosteal hemorrhage, an important component of diagnosis in scurvy patients, can be found with ultrasound. The vascularity of subperiosteal lesions can be assessed using Doppler ultrasound. Furthermore, since ultrasound is a useful, simple, safe, easily available, non-invasive, rapid, and relatively inexpensive diagnostic tool, it allows the response of patients with scurvy to ascorbic acid treatment to be easily assessed. In the present report, the ultrasound of the pediatric patient who was admitted with swelling at the knees showed subperiosteal hemorrhage. The ultrasound also showed that the joint did not have effusion. Using color Doppler ultrasound, the vascularity of the lesion was assessed, and malignity was excluded. In addition, the patient’s response to ascorbic acid treatment was shown in quickly, inexpensively, and correctly. Although radiographs and clinical changes in scurvy are the best diagnostic tools, effective use of ultrasound in pediatric patients is very important in diagnosis and followup since it does not involve ionizing radiation. Since scurvy is rare, and because its symptoms are nonspecific, the best evidence in the diagnosis of scurvy is the improvement in

symptoms that generally starts within a few days of commencing vitamin C supplementation. Spontaneous hemorrhages stop in 24 h, while muscle and bone aches disappear in a few days. With sufficient supplementation, complete remission from symptoms is observed within 3 weeks. In children, a 100- to 300-mg oral vitamin C treatment should be continued until the body reservoirs and serum levels improve [9]. The diet should be planned to include more vitamin C-rich fruits and vegetables, and the family should be instructed in dietary management. In conclusion, scurvy is rare in modern societies, and musculoskeletal manifestations, such as recurrent subperiosteal hematoma, are the main manifestation of scurvy in the pediatric population. The diagnosis of scurvy is based on clinical and radiological findings and low serum vitamin C levels, while a dramatic response of the patient to vitamin C treatment makes the diagnosis definitive. Ultrasound is shown to be a useful tool in the diagnosis and follow-up of the musculoskeletal manifestations of scurvy, especially in pediatric patients.

Conflict of interest No conflict of interest.

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Osteoskeletal manifestations of scurvy: MRI and ultrasound findings.

Scurvy has become very rare in the modern world. The incidence of scurvy in the pediatric population is extremely low. In the pediatric population, mu...
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