Skeletal Survey Research Articles

THU464 An Uncommon Case Of Adult-Onset Hypophosphatemic Osteomalacia

Abstract Disclosure: P.M. Lockhart Pastor: None. N.M. Maalouf: None. Introduction: Hypophosphatemic conditions that interfere with bone mineralization and cause osteomalacia comprise many hereditary and acquired diseases. We describe a case of acquired hypophosphatemic osteomalacia associated with Multiple Myeloma (MM). Case Report: A 45-year-old man with MM and systemic AL amyloidosis was referred to our clinic for evaluation of low bone mass on DXA scan. He presented with progressive back pain, proximal muscle weakness, weight loss, and worsening proteinuria, eventually leading to the diagnosis of AL amyloidosis on fat pad biopsy and MM on bone marrow biopsy. Biochemical work up was remarkable for elevated serum alkaline phosphatase at 463 U/L (reference range 46-116) determined to be of skeletal origin. Additional studies included serum phosphorus 1.9 mg/dl (2.4-4.5), creatinine 1.0 mg/dl (0.7-1.2), calcium 9.0 mg/dl (8.4-10.2), albumin 4.1 g/dl (3.5-5.2), PTH 17.1 pg/ml (15-77), and 25-OH-D 52 ng/ml (30-80). Skeletal survey and PET/CT identified diffuse osteopenia but no fracture or lytic lesion. DXA scan showed Z-score of -5.0 at the L-spine and -4.2 at the femoral neck. Further work-up of hypophosphatemia was notable for fractional excretion (FE) phosphate of 37% (<20), serum 1,25-OH2-D 74 pg/ml (18-64), FGF-23 <14 pg/ml (<59), hypouricemia with high FE uric acid, and normoglycemia with glucosuria. Given his marked bone pain, hypophosphatemia, hypouricemia, glucosuria, and elevated alkaline phosphatase, he was diagnosed with hypophosphatemic osteomalacia presumably secondary to light chain accumulation in kidneys leading to proximal tubule dysfunction (acquired Fanconi syndrome). In addition to MM treatment (5 cycles of Dara-CyBorD then stem cell transplantation), he was started on phosphate supplementation, with marked improvement in bone pain, muscle strength, and serum alkaline phosphatase over 6 months. No anti-resorptive agents were used in treating his MM. Conclusion: This case highlights an unusual presentation of hypophosphatemic osteomalacia. It is important to recognize that bone pain in patients with MM is not only caused by osteolytic lesion but can also result from osteomalacia due to Fanconi syndrome due to light chain kappa deposition. In this patient, treatment with phosphate supplementation resulted in clinical improvement of bone pain and biochemical markers. To date, there are only few reported cases of hypophosphatemic osteomalacia due to Fanconi syndrome in the setting of MM. Presentation: Thursday, June 15, 2023

FRI692 Severe Hyperparathyroidism And Nephrolithiasis In An Adolescent Male Due To CDC73 Positive Parathyroid Carcinoma

Abstract Disclosure: J.T. Nguyen: None. D.H. Geller: None. A. Ryabets-Lienhard: None. Introduction: Parathyroid carcinoma is a rare cause of primary hyperparathyroidism in the pediatric population, with only 20 previously reported cases. Variations in the CDC73 gene have been associated with sporadic parathyroid carcinoma, autosomal dominant hyperparathyroidism-jaw tumor syndrome (HPT-JT), and familial isolated hyperparathyroidism (FIHP). To our knowledge, only 3 cases of pediatric parathyroid carcinoma with confirmed variants of CDC73 have been reported. We present a case of severe hyperparathyroidism and nephrolithiasis due to parathyroid carcinoma caused by a pathogenic variant in CDC73 in a pediatric patient, highlighting the importance of early recognition and management. Clinical Case: An otherwise asymptomatic 14-year-old male presented with one year of recurrent nephrolithiasis. Initial tests demonstrated hypercalcemia (13.8 mg/dL, 8.4-10.2 mg/dL), normal phosphorous, elevated PTH (1,379 pg/mL, 7.5-53.5 pg/mL), and elevated alkaline phosphatase (514 U/L, 30-250 U/L). The hypercalcemia was treated with hyperhydration, furosemide, and pamidronate. Sestamibi scan revealed a focus of abnormal uptake suggestive of a left parathyroid mass, with ultrasonographic demonstration of a predominantly solid, hypoechoic, and vascular mass centered posterior to the inferior left thyroid lobe. Skeletal survey was notable for trabecular abnormalities and osteopenia. He underwent a left parathyroid mass excision. Final pathology confirmed the parathyroid carcinoma, with multiple foci of vascular invasion without evidence of capsular involvement. Immunohistochemistry demonstrated diffuse positivity for PTH and loss of parafibromin expression by the tumor cells. Genetic testing revealed a pathogenic germline heterozygous nonsense variant in CDC73 (c.376C>T(p.Arg126Ter)) resulting in protein truncation. Post-operative PTH was undetectable with normal calcium and phosphorous. Calcitriol, cholecalciferol, and calcium carbonate supplementation were implemented to prevent further hypocalcemia due to transient hypoparathyroidism and hungry bone syndrome. Calcium supplementation was discontinued within one year of his surgery. Serial thyroid ultrasounds and CT scans have been negative for recurrent or residual disease without evidence of metastasis. Mandibular x-ray showed no evidence of tumors or lesions involving the jaw. He has been noted to have small right renal cysts without other kidney abnormalities. Conclusion: Severe hyperparathyroidism due to parathyroid carcinoma can present as recurrent nephrolithiasis in an otherwise asymptomatic individual. Pediatric patients with a longstanding history of kidney stones should undergo screening for hypercalcemia and hyperparathyroidism even in the absence of other signs and symptoms of elevated calcium to ensure timely diagnosis and appropriate management. Presentation: Friday, June 16, 2023

SAT549 False Alarm: Profoundly High Thyroglobulin Level Without Evidence Of Thyroid Malignancy

Abstract Disclosure: F.L. Thelmo: None. J. Watari: None. J.L. Miller: None. Thyroglobulin (TG) remains a clinical mainstay for monitoring of disease burden and recurrence in patients with differentiated thyroid cancer. TG levels are expected to be low to undetectable in patients who undergo total thyroidectomy and less than 30 ng/mL in patients who undergo thyroid lobectomy. We describe a case of a 52-year-old patient who underwent thyroid lobectomy for a 16 mm minimally invasive follicular thyroid carcinoma (single vessel angioinvasion) who was later found to have a TG level in excess of 2,000 despite no signs of metastatic disease. A 52-year-old male with past medical history of prediabetes and minimally invasive follicular thyroid cancer presented for follow-up after right lobectomy five years prior. The patient was lost to follow-up after his lobectomy. During work-up of paresthesias, a cervical spine MRI incidentally noted a 41 mm enhancing mass in the left thyroid lobe. The patient had a TSH of 1.1 mIU/L. A dedicated thyroid ultrasound was performed which found a left 2.9 cm TI-RADS 3 nodule which was biopsied and found to be benign (Bethesda II). TG level was obtained and found to be significantly elevated at 2,479.9 ng/mL with negative thyroglobulin antibodies. This was repeated twice with subsequent levels being 1,857.5 ng/mL and 2,555.1 ng/mL. TG antibodies remained undetectable throughout the clinical course. The patient had a CT chest, abdomen, and pelvis exam for which no signs of metastatic disease were detected. A skeletal survey was performed which showed no evidence of metastatic disease. The patient elected for a completion thyroidectomy to ensure there was no undetected malignancy. The patient underwent successful completion thyroidectomy. Surgical pathology showed benign nodular hyperplasia. The patient was started on replacement levothyroxine and one month later the TG level became undetectable. We would like to draw attention to this patient’s profoundly high TG levels which are normally associated with recurrence of thyroid malignancy or large goiter. After comprehensive evaluation this patient was found to have no underlying disease recurrence. A completion thyroidectomy showed no malignancy within remnant thyroid tissue or adjacent lymph nodes and repeat TG level was undetectable after completion showing that native thyroid tissue had significantly high TG production without underlying disease. We believe his remaining relatively normal thyroid lobe was a super producer of thyroglobulin. Despite TG being a sensitive marker for residual thyroid tissue and disease, the standard cut-off for lobectomy must be used with caution and may not apply to every patient. Presentation Date: Saturday, June 17, 2023

SAT255 Dual Cause Of Hypercalcemia: Can Both Multiple Myeloma And Paraneoplastic Parathyroid-related Hormone Production Occur Simultaneously?

Abstract Disclosure: A. Shah: None. A. Barnett: None. G. Elshimy: None. Introduction: Hypercalcemia has a broad differential of causes, while hypercalcemia of malignancy is critical to identify as it affects up to one in five cancer patients. Hypercalcemia of malignancy can be caused by the elevation of PTHrP, 1,25-dihydroxy vitamin D, or osteolytic lesions. Few cases reported in the literature combined local osteolytic hypercalcemia and humoral hypercalcemia of malignancy mechanisms in patients with multiple myeloma. We present a case of hypercalcemia due to two simultaneous malignancies: squamous cell carcinoma and multiple myeloma. Case: A 54-year-old African American female presented with altered mentation. She had a known diagnosis of oropharyngeal squamous cell cancer with lung metastasis since June 2022. At the time of evaluation in September 2022, she was actively on cetuximab chemotherapy and completed her initial radiation. Her labs showed a white blood cell count of 10,200 (4000-11000 cells/μL), hemoglobin 9 (12-14 gm/dL), creatinine 0.85 (0.7-1.4 mg/dL), calcium 14.7 (8.8-10.4 mg/dL), phosphorus 3.6 (2.9-5 mg/dL), albumin 2.5 (3.4-5.4 g/dL), total protein 11 (6-8.3 g/dL). She was treated with IV fluids, calcitonin, and IV bisphosphonates. A review of prior labs was significant for persistent mild hypercalcemia since August 2022 as well as serum protein 10 and albumin 3. Further evaluation was pursued which showed PTH 14.2 (11.1-79.5pg/ml), PTHrP 37 (less than 4.2 pmmol/L), 1,25-Vitamin D 24 (19.9-79.30 pg/ml), 25-Vitamin D 7.86 (25-80 ng/ml). Elevated protein-albumin gradient caused concern for multiple myeloma, so further investigation was performed. Serum protein electrophoresis had a monoclonal spike of 3.94 gm/dL, Kappa: Lambda light chain ratio of 18.94 (0.96-1.65), and a 24-hour urine protein of 172 mg. Bone marrow biopsy showed 80% plasma cells consistent with multiple myeloma. Skeletal survey did not show any lytic lesions. Her hypercalcemia was attributed to two simultaneously occurring malignancies given the elevated PTHrP and newly diagnosed multiple myeloma. The patient improved with medical management for the hypercalcemia and was started on dexamethasone for the multiple myeloma. Discussion: Hypercalcemia of malignancy is commonly associated with both liquid malignancies like multiple myeloma, leukemia, and lymphoma as well as solid malignancies of squamous cell origins. PTHrP is elevated in squamous cell and renal cell carcinomas while high 1,25-dihydroxy vitamin D is seen in lymphomas. Multiple myeloma causes hypercalcemia through cytokine secretion resulting in the activation of osteoclasts causing osteolytic lesions. Our patient had hypercalcemia due to high PTHrP from squamous cell carcinoma as well as newly diagnosed multiple myeloma. This case highlights the importance of recognizing that hypercalcemia may be multifactorial and a complete evaluation is needed to treat all causes appropriately. Presentation: Saturday, June 17, 2023

THU234 An Adolescent Patient With Asymptomatic Hypocalcemia And Extensive Cerebral Calcification Due To Pseudohypoparathyroidism Type 1B: A Care Report

Abstract Disclosure: R. Alemzadeh: None. J.D. Ross: None. D. Guillen-Mendoza: None. Background: Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders due to renal resistance to parathyroid hormone (PTH) resulting in biochemical hypoparathyroidism but with skeletal sensitivity to PTH. Case Presentation: A 15-year-old African American male was incidentally found to have biochemical evidence of severe hypocalcemia during routine evaluation of his bilateral slipped capital-femoral epiphyses. The patient was at age-appropriate stage of puberty with normal height and without any features of hereditary osteodystrophy. However, he had history of mild developmental delay requiring school accommodations. On physical exam, there was some mild dyscoordination with finger and toe-tapping and a Myerson’s sign, negative tetany signs. The biochemical screening revealed markedly low serum calcium (4.9 mg/dL) with elevated phosphorus (7.8 mg/dL) and PTH (1314 pg/mL) levels. His hypocalcemia was accentuated by the presence of severe 25 hydroxy-vitamin D deficiency (7.5 ng/mL) with mild hypomagnesemia (1.4 mg/dL). He had normal renal and thyroid function tests with normal growth factors. There were minimal plasma cyclic AMP responses to a single dose of intravenous teriparatide (Ellsworth-Howard test) consistent with diagnosis of pseudohypoparathyroidism. The skeletal survey showed bowing and under-tubulation of the radius, ulna, tibia, and fibula as well as slipped capital femoral epiphysis bilaterally. His brain CT scan showed symmetrical severe dense calcifications in the basal ganglia, bilateral frontal, parietal and temporal subcortical white matter, pons and right dentate nucleus. Genetic testing did not reveal any GNAS mutations. The patient was initially treated with parenteral calcium followed by high-dose oral calcium supplements and calcitriol. His coexisting hypovitaminosis D and hypomagnesemia were corrected with oral high-dose cholecalciferol and magnesium sulfate, respectively. Conclusions: An incidental finding of severe asymptomatic hypocalcemia and elevated PTH without hereditary osteodystrophy phenotype raised the clinical suspicion of pseudohypoparathyroidism type 1B. This was associated with cerebral calcifications with increasing risk of worsening learning disabilities and minimal neurological findings. Presentation: Thursday, June 15, 2023

SAT213 Post-parathyroidectomy Acute Pseudogout Flare-up; A Case Report

Abstract Disclosure: S. Rabiei: None. V. Kantorovich: None. Introduction: Acute post-parathyroidectomy pseudogout has been reported in the early post-operative. Although the exact mechanism is unknown, accepted theories include decreased solubility of calcium pyrophosphate and unbalanced equilibrium between production and hydrolysis of inorganic phosphate. We present a patient who developed an acute pseudogout attack after parathyroidectomy. The Case: Patient is a 45-year-old male with a history of nephrolithiasis who presented to outpatient clinic with a right-sided neck mass that has been present for several years with recent increase in size. He reported unintentional weight loss (25 pounds) and night sweats. On physical examination, a right lateral neck mass measuring 6 x 4 cm was noted. CT scan of the neck demonstrated a complex mass with calcification. Serum calcium (Ca), phosphorus (P), potassium (K), and alkaline phosphatase levels were 17.2 mg/dL, 1.8 mg/dL, 2.6 mmol/L, and 1,782 U/L, respectively. Serum intact parathyroid hormone (iPTH) was 3,341 pg/mL. The patient was then admitted. He received intravenous fluid, zolindronic acid, and started on vitamin D supplementation in preparation for surgery. Pre-operative CT scan of the chest, abdomen, and pelvis was concerning for metastatic disease (retroperitoneal lymphadenopathy, multiple bilateral lung solid nodules, liver, kidney and bone lesions). The patient underwent complete resection of the tumor. Intra-operative frozen section confirmed parathyroid tumor with atypia. Twenty-minute post-excision iPTH was 476 pg/mL. In the early post-operative period, serum Ca level was reduced to 7.5-8.5 mg/dL and oral Ca and calcitriol supplementation were administered. However, serum PTH reached levels as high as 900 pg/mL. Post-operative MRI demonstrated benign liver and kidney lesion with non-visualization of the previously reported retroperitoneal lymph nodes and pulmonary nodules on the CT.A few days later, the patient complained of bilateral knee pain. Serum Ca, P, and PTH levels were 7.9 mg/dL, 3.0 mg/dL, and 861 pg/mL, respectively. The skeletal survey revealed diffuse osseous metabolic process with scattered lucent osseous lesions compatible with osteitis fibrosa cystica/brown tumors as well as chondrocalcinosis of knees and hand joints. Prednisone was started for treatment of presumed acute CPPD attack with subsequent significant resolution of patient’s joint pain. Discussion: This case demonstrated the importance of thorough evaluation of musculoskeletal complaints in patients with hyperparathyroidism. Bone and joint pain in patients with hyperparathyroidism is common and is most often the result of high bone turnover. However, other etiologies including acute pseudogout should be contemplated in order to provide the appropriate treatment. Post-parathyroidectomy acute pseudogout attack should generally be treated in the same way as in the general population. Presentation: Saturday, June 17, 2023

Bone and joint disease – Not always a rheumatological diagnosis

Abstract A 17-year-old female presented with a 7-day history of joint pains involving the bilateral knee, ankle and small joints of the hands and feet symmetrically, associated with bilateral knee joint swelling and early morning stiffness and bilateral red eyes. General examination was normal except for pallor. Musculoskeletal system examination revealed bilateral swollen and tender knee joints with restriction of movement along with tenderness in the bilateral shoulder, elbow, ankle joints and spine from T3 to T7 thoracic vertebral levels. Examination of other systems was normal. Investigations showed anaemia, elevated urea and creatinine. Skeletal survey showed multiple lytic lesions. Positron emission tomography revealed multiple punched-out lytic lesions in skull bones, scapulae, sternum, clavicles, ribs on both sides, vertebrae at multiple levels and in pelvic girdle bones. Few lesions showed mild 18fluorodeoxyglucose (18FDG) uptake, metaphyseal moth-eaten lysis in long bones with mild FDG uptake. Bone marrow biopsy and immunohistochemistry confirmed the diagnosis of acute B-cell lymphoblastic leukaemia. The terminology is according to 2016 revision of WHO classification of myeloid neoplasms and acute leukemia.

Skeletal Surveys in Suspected Non-accidental Trauma: Examining the Yield and Current Clinical Practices at a Regional Referral Center in West Virginia.

Introduction Non-accidental trauma (NAT) is a leading cause of pediatric injury and death. When NAT is suspected in children under the age of 24 months, the American Academy of Pediatrics (AAP) recommends using skeletal surveys (SS) to identify acute, healing, or old fractures and to repeat the SS approximately two weeks after initial imaging as acute fractures can sometimes not be seen on initial imaging.In this study, we determined the yield of initial and follow-up SS obtained for suspectedNAT in children under the age of 24 months at a regional referral hospital. Methods We reviewed charts of children younger than 24 months who received SS imaging, due to physical abuse suspicion, at our hospital system between 2017 and 2022. We used convenient sampling to examine all SSoccurring at the Charleston Area Medical Center Healthcare System. Results A total of 61 of the 126 initial SS showed fractures. Only 9% of children received follow-up SS. Repeat SS performed approximately two weeks after positive initial SS showed signs of healing, including new fractures not reported on the initial scan. Follow-up SS performed within eight weeks after initial negative scans continued to be negative. Lastly, consults from child abuse pediatricians were found to be underutilized as only 48% of patients received consultations. Conclusion Follow-up SS and child abuse pediatrician consults were found to be underutilized. Follow-up SS and consulting child abuse specialists should not be overlooked, irrespective of positive or negative initial SS, to provide optimal management of NAT.

Langerhans Cell Histiocytosis With Thyroid Involvement on 18F-FDG PET/MR.

An 18-month-old otherwise healthy girl presented with 1 month of neck swelling. Based on ultrasonography that showed diffusely enlarged heterogeneous thyroid gland, a presumed diagnosis of thyroid cancer was made. Subsequent core needle biopsy revealed Langerhans cell histiocytosis extensively involving the thyroid. 18F-FDG PET/MR was performed for staging and to evaluate the local extent of the disease in the neck. PET/MR demonstrated a hypermetabolic neck mass inseparable from the thyroid gland. The mass encased the major vessels, trachea, and esophagus without compression or invasion. Osseous involvement was excluded by both skeletal survey and PET/MR.

816 A Benign Diagnosis for Suspected Malignant Differential of a Sacral Lytic Lesion.

Abstract 49-year-old relatively healthy man presented to the ER with abdominal and associated low back pain. Past history was significant for excision of spinal benign tumor excision and 30-year pack history of smoking. Review of systems was significant for recurrent leg swelling and muscle aches. Neurological exam was non focal. CT scan of the abdomen and pelvis revealed a lytic sacral lesion with soft tissue component. The rest of the skeletal survey and system evaluation was unremarkable. Patient was referred to Oncology, suspecting the localized plasmacytoma variant of multiple myeloma with an inconclusive sacral mass biopsy report. Full blood count, comprehensive metabolic panel, Beta-2 microglobulin serum protein electrophoresis (SPEP), and free light chains assays undertaken were all within normal ranges. Further second opinion was sought for the biopsy results to undertake special stains which concluded the biopsy as schwannoma. In view of the persisting recurring pain and swelling, further MRI imaging and IR guided biopsy was suggested. However, the patient was with limited insurance coverage. He opted to defer further evaluation and adopted a “wait and see” approach and has since remained stable. Sacral schwannomas are rare. It is possible that his previous extradural lesion could have been a schwannoma. Schwannomas are slow growing and relatively asymptomatic. As they are typically lytic lesions can easily be mistaken for malignant lesions and have to be considered in the differential of osteolytic lesions as they can grow in close proximity to bony structures.

Yield of Postmortem Skeletal Surveys in Infants Presenting to Emergency Care With Sudden and Unexpected Death.

Child abuse should be considered in cases of sudden unexpected infant death (SUID). Postmortem skeletal surveys (PM-SS) are recommended to evaluate for abusive fractures in SUID. Little is known about the yield of PM-SS among infants presenting to emergency care with SUID. Our objectives were to (1) describe the presentation and care of infants with SUID at a tertiary children's hospital emergency department and (2) report PM-SS use and findings. We performed a retrospective study of infants younger than 12 months with SUID presenting to an urban emergency department from 2007 to 2019. We describe their presentation and care, including PM-SS performance and findings, referrals to the medical examiner, and reports to child protective services (CPS). We assessed for associations between race, payer, and presentation with reports to CPS. Of 73 infants with SUID, concern for unsafe sleep was documented in 45 (61.6%) and 71 (97.3%) underwent cardiopulmonary resuscitation by a medical professional. All 73 (100%) underwent PM-SS and were referred to the medical examiner. Twelve definite fractures (11 rib, 1 classic metaphyseal lesion) and 8 possible fractures (7 rib, 1 classic metaphyseal lesion) were identified among 6 (8.2%) infants. Forty-three (58.9%) were reported to CPS. There were no associations between race, payer, age, or history of unsafe sleep and CPS reports. One in 12 cases of SUID had a possible and/or definite fracture identified on plain radiography. Multicenter studies are needed to compare yield across different postmortem imaging modalities and populations.

A neonate with metatropic dysplasia: A case report

Metatropic dysplasia is a rare form of skeletal dysplasia in which characteristic clinical and imaging features are found at birth. The short limbs with relatively long trunk seen in the neonatal period change to short trunk in childhood due to progressive kyphoscoliosis. This rare condition should be diagnosed in the neonatal period to avoid diagnostic dilemma in later life. A 2-day-old baby girl was referred for a skeletal survey study to diagnose the underlying skeletal dysplasia. The metatropic dysplasia was diagnosed based on plain radiographic findings. This case report highlights the characteristic radiographic findings of this rare disease entity.

New Developments in Myeloma Treatment and Response Assessment.

Recent innovative strategies have dramatically redefined the therapeutic landscape for treating multiple myeloma patients. In particular, the development and application of immunotherapy and high-dose therapy have demonstrated high response rates and have prolonged remission duration. Over the past decade, new morphologic or hybrid imaging techniques have gradually replaced conventional skeletal surveys. PET/CT using 18F-FDG is a powerful imaging tool for the workup at diagnosis and for therapeutic evaluation allowing medullary and extramedullary assessment. The independent negative prognostic value for progression-free and overall survival derived from baseline PET-derived parameters such as the presence of extramedullary disease or paramedullary disease, as well as the number of focal bone lesions and SUVmax, has been reported in several large prospective studies. During therapeutic evaluation, 18F-FDG PET/CT is considered the reference imaging technique because it can be performed much earlier than MRI, which lacks specificity. Persistence of significant abnormal 18F-FDG uptake after therapy is an independent negative prognostic factor, and 18F-FDG PET/CT and medullary flow cytometry are complementary tools for detecting minimal residual disease before maintenance therapy. The definition of a PET metabolic complete response has recently been standardized and the interpretation criteria harmonized. The development of advanced PET analysis and radiomics using machine learning, as well as hybrid imaging with PET/MRI, offers new perspectives for multiple myeloma imaging. Most recently, innovative radiopharmaceuticals such as C-X-C chemokine receptor type 4-targeted small molecules and anti-CD38 radiolabeled antibodies have shown promising results for tumor phenotype imaging and as potential theranostics.

E35 Achondroplasia: delayed diagnosis of a severe, complicated form

Abstract Introduction Achondroplasia is the most common form of chondrodysplasia. It manifests by marked rhizomelia, hyperlordosis, brachydactyly and macrocephaly with large, prominent forehead and mid-face hypoplasia. Objective To describe a case of achondroplasia with delayed diagnosis and severe extra-skeletal complications. Result An eight-year-old girl, diagnosed with a bilateral pulmonary ecchinococcosis, was referred for thoracic surgery and a pediatric opinion was required. Physical examination revealed a severe juvenile form of achondroplasia with marked restriction of opening of the mouth and sleep apnea. Pulmonary function tests showed a mild restrictive lung disease. Her skeletal radiological survey showed the classic signs of achondroplasia and a bilateral coxa vara. Thoracic surgery was successfully scheduled with a multidisciplinary team encompassing pediatric surgeons, pediatricians, anesthesiologists and specialized nurses. A dedicated ENT and pulmonology team managed her sleep apnea and respiratory disorder respectively, while pediatric orthopedic team managed the hips. Discussion Achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene encoding a transmembrane receptor important among other things in the regulation of linear growth of long bones. Diagnosis is mainly based on the presence of specific clinical and radiological features. Strict adherence to recommendations for perioperative and surgical care are essential. Conclusion The management of achondroplasia is multidisciplinary, and supportive measures are more than crucial; especially in particular situations, such as anesthesia and surgery, that require additional precautions with prudent perioperative management and prolonged postoperative care. Evidently, long term follow-up of the respiratory and musculoskeletal systems is essential. The life expectancy of such patients is close to that of the general population, but patient’s and family’s quality of life is highly impacted. Ethics Parental consent taken before case reporting.

Case 316: Progressive Pseudorheumatoid Dysplasia.

A 10-year-old North Indian boy presented with swelling of multiple joints in his hands for the past 3 years. This swelling involved the small joints of his hands and some restriction of joint movement, without any associated tenderness or morning stiffness. No other joints were symptomatically involved. Prior to visiting our hospital, he had received disease-modifying antirheumatoid drugs for suspected juvenile idiopathic arthritis, without any clinical benefit. On examination, the metacarpophalangeal and interphalangeal joints were nontender but had swelling and flexion deformities. He also had a short stature (below the third centile) for his age. Inflammatory markers, including erythrocyte sedimentation rate (7 mm per hour; normal range, 0-22 mm per hour) and C-reactive protein level (1.5 mg/L; normal level, <10 mg/L), were normal, and the rheumatoid factor test result was negative. A skeletal survey of the patient was performed.

The Impact of an Emergency Department Bruising Pathway on Disparities in Child Abuse Evaluation.

Previous research has shown racial, ethnic, and socioeconomic disparities in provider medical evaluations and reporting to child protective services (CPS) and law enforcement (LE) for cases of suspected child physical abuse. Our hospital standardized evaluation and reporting of high-risk bruising using a clinical pathway. We aimed to assess whether standardization impacted disparity. We performed a retrospective observational study including children evaluated in the emergency department who had a social work consult for concern for child abuse or neglect between June 2012 and December 2019. From this group, we identified children with high-risk bruising. We compared outcomes (receipt of skeletal survey, CPS report, or LE report) before and after implementation of a standard bruising evaluation pathway to determine how the intervention changed practice among various racial, ethnic, and socioeconomic groups. During the study period, 2129 children presented to the ED and received a social work consult for child abuse or neglect. Of these, 333 had high-risk bruising. Children without private insurance had a higher risk of having a CPS (adjusted relative risk, 1.32; 95% confidence interval, 1.09-1.60) or LE (adjusted relative risk, 1.48; 95% confidence interval, 1.11-1.97) report prepathway, but not after pathway implementation. No significant associations were seen for race or ethnicity. A standardized clinical pathway for identification and evaluation of high-risk bruising may help to decrease socioeconomic disparities in reporting high-risk bruising. Larger studies are needed to fully evaluate disparities in assessment and reporting of child abuse.

PA19 A rare case of Buschke–Ollendorff syndrome

Abstract We present a case of Buschke–Ollendorff syndrome (BOS) in a 6-year-old girl. The BOS is rare genodermatosis distinguished by the presence of short stature and skeletal and connective tissue defects. This patient first attended the dermatology department with a history of small asymptomatic dermal papules and nodules noted overlying the skin on her abdomen since the age of 2 years. They became more numerous and evolved over her right buttock and left posterior calf. Subsequent investigation with ultrasound imaging illustrated that these lesions were elasotomas and, on a separate occasions, also suggested the possibility of a lipoma or collagenoma, and ruled out a sarcoma or malignancy. Skeletal survey of the upper limbs, hands, pelvis, lower limb and both feet highlighted the presence of well-defined sclerotic lesions involving the periarticular regions. This condition was again confirmed by clinical geneticists who advised that future family planning and confirmatory testing would identify the presence of LEMD3, responsible for this autosomal dominant condition. There was no history of genetic disorder within the family, but it was noted that the patients and both parents had a short stature, which is another hallmark feature of this condition. On successive reviews, the patient continued to display gradual enlargement of her elastomas and developed other cutaneous manifestations, including congenital naevi. This case report contributes to the appreciation of the clinical manifestation of this uncommon condition.

Abstract #1406955: Two Parathyroidectomies in the Third Trimester for Severe Primary Hyperparathyroidism (PHPT) Resulting in Distinct Maternal and Fetal Outcomes

Parathyroidectomy (PTX) is well-tolerated in the second trimester of pregnancy in women with severe PHPT. We present two women requiring PTX in the third trimester of pregnancy due to the severity of the disease. Case 1: 30 y.o female presented at 33 weeks’ gestation with leg pain and severe PTH-mediated hypercalcemia; serum corrected calcium 4.2mmol/L (NR: 2.15-2.6), PTH 147.9 pmol/L (NR:1.6-6.9). She was symptomatic for 2 yrs prior and had a history of nephrolithiasis; the renal US showed 10-20 non-obstructing renal calculi. Femur X-ray demonstrated an aggressive lesion, identified as a brown tumor, on histopathology with additional bone lesions on skeletal survey. Severe hypercalcemia was managed with IV fluids, calcitonin and cinacalcet 30 mg BID. Neck-CT showed a 4cm parathyroid adenoma with no overt malignant features. Subtotal PTX was performed at 33w2d, and PTH dropped to 4.7pmol/L postop. Histopathology reported atypical parathyroid adenoma. Post PTX patient went into premature rupture of membranes, c-section done at 34 weeks’ gestation. Day 8 post PTX, the patient developed hungry bone syndrome, she also had a mechanical fall and sustained a pathological fracture of the femur, the site of brown tumor. Baby was admitted to NICU with hypoparathyroidism, resolved at 3 months of age. Case 2: 32 y.o female presented at 27 weeks’ gestation with incidental hypercalcemia and high PTH. Nausea and vomiting worsened from the 18th week of gestation. No end-organ involvement. Corrected calcium 3.04 mmol/L, PTH 17.1 pmol/L. Managed with IV fluids, and remained symptomatic with no improvement in hypercalcemia. PTX for parathyroid adenoma was performed at 30 weeks’ gestation with excellent maternal and fetal outcomes. PTH dropped to 2.0 pmol/L postop. Had spontaneous vaginal delivery at 39 weeks’ gestation, no neonatal hypocalcemia. Baby has normal milestones. Biochemical workup for Multiple Endocrine Neoplasia type1 (MEN1) was unremarkable for both patients, DNA testing is outstanding. The duration of PHPT, the severity of hypercalcemia, and the involvement of end-organ damage are critical factors that may influence both maternal and fetal outcomes in women with PHPT who undergo PTX in the third trimester.

When to Obtain Skeletal Surveys in Infants With Skull Fractures

When to Obtain Skeletal Surveys in Infants With Skull Fractures

Case 316

A 10-year-old North Indian boy presented with swelling of multiple joints in his hands for the past 3 years. This swelling involved the small joints of his hands and some restriction of joint movement, without any associated tenderness or morning stiffness. No other joints were symptomatically involved. Prior to visiting our hospital, he had received disease-modifying antirheumatoid drugs for suspected juvenile idiopathic arthritis, without any clinical benefit. On examination, the metacarpophalangeal and interphalangeal joints were nontender but had swelling and flexion deformities. He also had a short stature (below the third centile) for his age. Inflammatory markers, including erythrocyte sedimentation rate (7 mm per hour; normal range, 0-22 mm per hour) and C-reactive protein level (1.5 mg/L; normal level, <10 mg/L), were normal, and the rheumatoid factor test result was negative. A skeletal survey of the patient was performed and is shown in Figures 1-6.