A young girl with “bones, abdominal groans, thrones and psychic moans”

A young girl with “bones, abdominal groans, thrones and psychic moans” I Ranathunga1, N P Somasundaram1 1Diabetes and Endocrinology unit, National Hospital of Sri Lanka. Correspondence Email: ish_75@yahoo.com ORCID ID: https://orcid.org/0000-0002-2188-5309 Copyright: This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited (CC BY 4.0) A 17-year-old previously healthy school girl presented with, bilateral lower and upper limb pain and bowing of legs for 7 months. She also complained of constipation, polyuria and polydipsia. She had moderate depression with frequent school abstinence. There was no family history of a similar disorder. On examination, she had genu varus deformity of the knees. Her X-rays are shown below.


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A young girl with "bones, abdominal groans, thrones and psychic moans" A 17-year-old previously healthy school girl presented with, bilateral lower and upper limb pain and bowing of legs for 7 months. She also complained of constipation, polyuria and polydipsia. She had moderate depression with frequent school abstinence. There was no family history of a similar disorder. On examination, she had genu varus deformity of the knees. Her X-rays are shown below.
What is the radiological diagnosis?

Osteitis fibrosa cystica
Osteitis fibrosa cystica is the classic manifestation of hyperparathyroid bone disease. It is characterized clinically by bone pain and radiographically by salt and pepper" appearance of the skull (a), sub-periosteal bone resorption on the radial aspect of the middle phalanges (b), bone cysts, brown tumors of the long bones (c, d) and rugger jersey spine. Brown tumors arise from increased osteoclast activity and it has collections of osteoclasts intermixed with fibrous tissue and poorly mineralized woven bone. The brown colour occur due to hemosiderin deposition (1).

What is the clinical diagnosis? Primary Hyperparathyroidism
Primary hyperparathyroidism is a disorder characterized by excessive parathyroid hormone (PTH) secretion. Most are asymptomatic but some can have a variable presentation including nonspecific symptoms, skeletal and renal manifestations (1). Investigations typically reveal elevated PTH, high calcium, low phosphate and increased urinary calcium excretion. Radiological manifestations can be variable, but in severe cases, classical radiological features like osteitis fibrosa cystica can be seen.

What are the further investigations?
Following is a summary of the investigation results of the index patient.

What is the management?
For symptomatic patients and asymptomatic patients with primary hyperparathyroidism who meets the specific criteria should undergo surgery as the definitive management (2). Surgery is facilitated by preoperative localization of the underlying causative pathological gland using ultrasonography, technetium-99m-labeled sestamibi, high resolution CT, fourdimensional CT and intraoperative PTH measurement in the modern era (3). Though our patient had a possible lesion on the left side, parathyroid venous sampling revealed inconclusive results. The left sided parathyroid veins were poorly cannulated and inferior parathyroid venous drainage revealed elevated parathyroid hormone levels which was most suggestive of multi-gland disease.
The indexed patient underwent bilateral neck exploration with three and half gland removal with half gland re-implantation in the left sternocleidomastoid muscle. Her intraoperative PTH measurement revealed 50% reduction from the pre-operative value (pre-op-1925 pg/ml, 15 min after gland removal 625 pg/ml). Histology revealed three and half parathyroid glands with chief cell hyperplasia. Nevertheless, her post-operative serum calcium and parathyroid hormones were persistently elevated (1363.7 pg/ml) and she is awaiting further evaluation and management.
Parathyroid venous sampling is an invasive method to determine the location of the hyper-functioning parathyroid tissue when the noninvasive imaging techniques are rendered inconclusive such as incompatible functional and anatomical imaging or inability to accurately localize the lesion (4). Though high success rates can be obtained if precisely performed, several technical difficulties and pitfalls may act as confounders (5). The index patient had multi-gland disease as demonstrated by the venous sampling and underwent four gland exploration with three and half gland removal. Despite the meticulously performed surgery she continued to have very high PTH levels which necessitated further intervention.
Intraoperative PTH measurement is considered as a highly sensitive and a specific method in predicting operative success with postoperative achievement of normo-calceamia (6). Technical errors in handing the samples, multiglandular disease and parathyroid carcinoma are some of the causative factors documented in the literature that may result in falsely positive results with > 50 % drop in the intra-operative PTH assay (7). The patient on discussion also had a false positive result on the intra-operative PTH assay culminating in unsuccessful surgery.