I spy with my little eye

Aparna Reddy S MD Medicine, DM Rheumatology
Consultant Rheumatologist, Sree Sanvi Oncology and Rheumatology Centre, Tirupati, Andhra Pradesh

Meticulous history taking and physical examination are the basic armamentarium for diagnosis in medicine. Here we have three cases where in the patients were initially misdiagnosed, later the diagnosis was picked up with simple observations from existing records, history and/or examination. 

Listen to your patient, he is telling you the diagnosis.

William Osler


Case 1

A 24-year young man presented with mechanical low back pain, pain in knees, ankles and shoulders on activity for past 10 years. He had no constitutional features and there was no suggestion of any extraarticular manifestations.

His father and paternal uncle had similar complaints. His father had been diagnosed and treated for ankylosing spondylitis with no clinical response. His mother had noticed darkening of urine on exposure to air (Fig 1), both for her son and her husband’s family.
Musculoskeletal examination of the patient was normal. However, his father had kyphosis, limitation of spinal range of motion and discolouration of teeth.

The patient’s urine turned dark when exposure to the air and had elevated homogentisic acid level. Other relevant laboratory tests were normal and HLAB27 was negative. The radiographs of lumbosacral spine showed osteopenia, intervertebral disc narrowing, dense disc calcification, broad syndesmophytes and normal sacroiliac joints (Fig 1B,C).

In the above scenario the father was on treatment for past 25 years with no response. His wife had noticed the black coloured urine but it was not accorded due importance. The patient did not have any features of ankylosing spondylitis. It was a case of ochronotic arthropathy misdiagnosed as ankylosing spondylitis.

Case 2

A 30-year-old male presented with bilateral chronic dacryoadenitis of four months’ duration (Fig 2A). He had vague joint pains and no other symptoms. There was no arthritis. He had a positive rheumatoid factor and negative anti-nuclear antibody and anti-cyclic citrullinated peptide. He was being treated as seropositive rheumatoid arthritis with secondary sjogrens. He had response to steroids, but symptoms recurred after stopping the drug. In this patient possibilities considered were granulomatosis with polyangiitis, Rosai-Dorfman disease, nonspecific chronic inflammation and fibrosis involving lacrimal gland or soft tissue. On further evaluation he had elevated IgG4 levels, elevated ratio, histopathology suggestive of IgG4 RD (Fig 2B,C,D).

Case 3

A 50-year-old female presented with weakness of both lower limbs, associated with pain and there was clinical suspicion of myositis. She was diagnosed as polymyositis and was treated with steroids and injectable cyclophosphamide. She did not have any improvement. Her muscle enzymes were normal, serology was negative. The MRI thighs was suggestive of myositis (Fig 3). She had bleeding per rectum.

All her previous records were reviewed. Based on the history it was noted that she had developed myositis of the hip flexors after treatment for high grade adenocarcinoma of rectum. She underwent capecitabine-based chemotherapy along with neoadjuvant concurrent pelvic radiation therapy. The patient improved with 1 mg per kg prednisone, which was gradually tapered over 6 months, with considerable recovery.

Hence the presentation, and response of this patient to corticosteroids favoured towards radiation recall myositis.

Suggested reading:

  1. Chu P, Cuellar MC, Bracken SJ, Tarrant TK. A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature. Curr Allergy Asthma Rep. 2021 Mar 5;21(3):19.
  2. Mombaerts I. The many facets of dacryoadenitis. CurrOpinOphthalmol. 2015 Jul;26(5):399-407.
  3. Florczynski MM, Sanatani MS, Mai L, Fisher B, Moulin DE, Cao J, Louie AV, Pope JE, Leung E. Severe myositis of the hip flexors after pre-operative chemoradiation therapy for locally advanced rectal cancer: case report. BMC Cancer. 2016 Mar 22;16:243.