Persistence Pays with Hard Bones And Nuts

This story has been contributed by Dr. Argha Chatterjee, a third year PG in the department of Radiology at the Medical College and Hospital, Kolkata, after reading the earlier post on Tea and Fluorosis and in the spirit of this blog.

In his words…

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This is the story of a 28 year old gentleman, who presented to the general medicine out-patient department (OPD) with stiffness in both knees and spine for 2 years. He could not walk and was carried to the OPD by his neighbour. His knees were fixed at flexion and he had significant kyphosis. The doctors at the medicine OPD saw his knee radiographs done elsewhere, which showed gross osteopenia and a coarse trabecular pattern. The patient was admitted and radiographs of his knees, pelvis and lumbosacral spine were performed in our department.

A medicine post-graduate trainee (PGT) took away the “wet” films (it was a digital radiograph, so not really “wet”) and so it never came to us for reporting. After two days the radiographs were brought to our department by another medicine PGT. They were obviously confused because the pelvic and spine radiographs showed marked high bone density. They thought ofosteopetrosis but could not explain the osteopenia in the knees. They wanted to know what sclerosing bony dysplasia can cause both. In the meantime, the history had already taken a back seat.

What I saw was grossly increased bone density in the pelvis and lower lumbar spine associated with calcification and, at places, ossification at the ligamentous attachments (Figure 1). The knees showed osteoporosis, especially in the lower end of the femur (Figure 2). Calcification of the obturator membranes was present (Figure 3). There was coarsening of the trabeculae in all the visualised bones. Now, this is supposed to be a long case in the MD examination. So I said, “This is fluorosis.”

Frontal radiograph of the pelvis shows increased bone density and calcification at the ligamentous attachments (arrowheads).

Frontal radiograph of the pelvis shows increased bone density and calcification at the ligamentous attachments (arrowheads).

Frontal radiographs of both knees (fixed at flexion) show coarsening of the trabeculae and osteopenia at the lower ends of both femora.

Frontal radiographs of both knees (fixed at flexion) show coarsening of the trabeculae and osteopenia at the lower ends of both femora.

Oblique radiograph of the pelvis shows obturator membrane calcification (arrow).

Oblique radiograph of the pelvis shows obturator membrane calcification (arrow).

The PGT was not convinced. He argued for ostepetrosis. I countered that this was not dysplastic bone because the trabeculae were coarse; moreover the osteopenia and joint stiffness could not be explained by a dysplasia. He argued about the presence of coexistent osteopeia? I explained to him that osteoporosis is a known and important feature of skeletal fluorosis. In fluorosis, there is increased bone turnover. So initially there is high bone density (phase I) but later on, the long bones develop osteoporosis (phase II). He asked, “Isn’t there interosseous ligament calcification in fluorosis?” I pointed out the obturator membranes (Figure 3) and lesser trochanters. He said that his boss was not going to be convinced by just that. I agreed to arrange for a forearm radiograph free of cost.

The next morning I visited the patient’s bedside after reading up the clinical features of fluorosis. The patient had every feature. The stiffness started in the spine until he was finally immobile from knee stiffness. The PGT was there with a grin on his face. He said, “This is not fluorosis. The patient has no dental changes. I checked.”  I said that dental fluorosis occurs only when patient is exposed to high fluorine levels during the pre-eruptive stage of teeth. Then he dropped the bomb. “He is from Serampore, Hoogly!” Now this one floored me. The districts of West Bengal endemic for fluorosis are Purulia, Birbhum, Malda, Dinajpurs and South 24 PGs. Not Hoogly. I anyway asked for the forearm radiographs which were done later that evening. The forearm radiographs were classical for fluorosis (Figure 4).

Frontal radiographs of both forearm show classic interosseous membrane calcification (arrows).

Frontal radiographs of both forearm show classic interosseous membrane calcification (arrows).

Nevertheless the medicine unit did become serious about the diagnosis of fluorosis. A urine fluoride was done within the coming week but surprisingly it was normal. I thought my spot diagnosis was slipping away. About 2 weeks later, I met the same PGT in the canteen. I asked him about the case. He said a drinking water sample from the patient’s home was tested in a lab at Jadavpur University. The fluorine level was 2.5 mg/litre (WHO guideline value is less than 1.5 mg/litre). “The urine level?”, I asked. He told me that if a person is more than three weeks away from exposure, then the urine level may become normal. They finally diagnosed the case as skeletal fluorosis. He also told me that people at JU were surprised to find such high fluoride levels in Serampore.

I realised that day how important radiology can be in clinical diagnosis, sometimes against other evidence and we are, indeed, clinicians, not just image readers.

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For a comprehensive review of the radiology of skeletal fluorosis, please read this article.

Arghat’s contact: arghachat84 at gmail.com

Brittle Bones, Late Diagnosis

I received a call about 4 months ago from a family physician, who wanted me to perform a USG or CT guided biopsy for a mass in the anterior compartment of the right thigh in a 47-years old woman. He did not give me any more details and said the patient would get in touch with me.

I forgot about this, until a month later, when I was going through some histopathology reports of biopsies done by my ultrasonologist and chanced upon a report that described a hemangiopericytoma in the thigh with a comment saying that this was consistent with a phospaturic mesenchymal tumor.

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Fig. 1: Ultrasound shows the mass in the anterior compartment of the right thigh (red arrow) with the biopsy needle (blue arrow)

I called for more details and then realized that this was the same patient that the family physician, a month ago, had called about. Different people in our department do ultrasound and CT-guided biopsies and the patient went straight to the ultrasonologist, who in turn, went ahead and performed a core biopsy of the mass in the anterior compartment of the thigh (Fig. 1).

A phosphaturic mesenchymal tumor is a rare condition and typically secretes FGF-23 (fibroblastic growth factor) that produces osteomalacia. This combination is called oncogenic osteomalacia or tumor-induced osteomalacia (TIO).

I then asked the patient to get all the reports and details.

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Fig. 2: Radiograph shows an insufficiency fracture (arrow) of the base of the proximal right 3rd metatarsal bone.

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Fig. 3: Radiograph shows an insufficiency fracture (arrow) of the mid-left 5th metatarsal bone.

It had taken 5 years to get to this diagnosis. She started with an insufficiency fracture, five years ago, in the right 3rd metatarsal bone (Fig. 2), followed a month later by another fracture in the left 5th metatarsal bone (Fig. 3). She received symptomatic treatment and went from doctor to doctor with variable diagnoses of osteoporosis and perhaps osteomalacia.

This went on for 4 years, until one day, she was unable to get up from bed. She was admitted to a hospital and a skeletal survey showed fractures of the necks of both humeri (Fig. 5) and femurs (Fig. 6) with biconcave vertebrae (Fig. 7). Finally she received a diagnosis of osteomalacia and was worked up.

Her serum calcium was normal, vitamin D was normal, serum phosphorus was very low and her 24-hours urine phosphorus was elevated with a normal serum parathormone level and a raised serum alkaline phosphatase level. She did not fit into vitamin D related causes or phosphate deficiency conditions and what was left was a potential diagnosis of oncogenic osteomalacia.

Fig 4

Fig. 4: Radiographs of both shoulders show fractures (red arrows) of the necks of both humeri

Fig 5

Fig. 5: Radiograph of the bones of the pelvis and both hips show fractures (red arrows) of the necks of both femurs.

Lateral radiograph of the spine shows biconcave vertebrae

Fig. 6: Lateral radiograph of the spine shows biconcave vertebrae

Thus started the search for an FGF-secreting tumor that produces phosphaturia, hypophosphatemia and osteomalacia. A PET/CT then showed a mass with low FDG uptake in the anterior compartment of the thigh (Fig. 7), which was then biopsied. The common tumors that produce FGF are hemangiopericytoma, hemangioma, giant cell tumor and non-ossifying fibroma.

Contrast enhanced CT scan shows a hypervascular lesion (arrow) in the anterior compartment of right thigh, with mild FDG uptake (arrow) on the PET study.

Fig. 7: Contrast enhanced CT scan shows a hypervascular lesion (arrow) in the anterior compartment of right thigh, with mild FDG uptake (arrow) on the PET study.

She was operated and the tumor removed. Most patients show dramatic recovery of their phosphorus levels, but the skeletal changes and fractures take time to heal. The patient is slowly getting better symptomatically.

The most common reason for delayed diagnosis (in her case 5 years with an average time of 4.7 years from start of symptoms to final diagnosis) is due to lack of awareness and the inability to find the tumor.

This case was recently presented by our DNB resident Dr. Parang Sanghavi in the Teaching Files Case Presentation meeting in Mumbai, where it won the first prize in the 3rd year residents’ category.

Tea and Fluorosis

Tea and Fluorosis

Who would have thought that drinking tea can produced fluorosis. In keeping with the theme of this blog, this short story / report about a patient who developed fluorosis after drinking copious amounts of tea (yes, tea), everyday is extremely interesting.

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