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Rare POEMS syndrome diagnosed in Guntur

The 28-year-old’s disorder was pinpointed after extensive tests

A rare syndrome, which had left many doctors baffled, has been finally diagnosed by doctors of the Neurology Department at the Guntur Government General Hospital.

POEMS syndrome (a rare autoimmune syndrome marked by Polyneuropathy, Organomegaly, Endocrinopathy, Myeloma Protein and Skin Changes) is a rare disease.

The patient, a 28-year-old software engineer residing in the United States., came to N.V. Sundara Chary, Professor of Neurology at GGH, in the first week of November on a wheelchair accompanied by his father and brother with chief complaints of weakness of legs and arms, wasting and weakness of hands, swelling of both lower limbs and distension of abdomen with protruding umbilicus for the past six months.

Initial examination of reports suggested that doctors in the U.S. had diagnosed the condition as ‘Transverse myelitis’, and treated him for that with mild improvement.

Further examination revealed quadriparesis, ascites, umbilical hernia and non-pitting oedema of both lower limbs with thickened skin. He was admitted to hospital and doctors started investigations.

The brain MRI revealed no acute intracranial abnormality but the MRI of the spine revealed subtle T2 hyperintensity in cervical discs from C3 -C7. The MRI was suggestive of subtle myelitis and interpreted by the day-to-day reports in the hospital.

The patient’s Erythrocyte Sedimentation Rate (ESR) was high suggesting an infection/inflammation /malignancy. Lymphadenopathy was found suggestive of underlying lymphoproliferative syndrome, Castleman disease. In the meantime, he had developed respiratory insufficiency and was intubated and mechanically ventilated for that. After extubation, he was subjected for nerve conduction studies.

As days progressed, his leg oedema disappeared, and he became bright. Bone marrow aspiration was repeated and showed reactive marrow with plasmacytosis (~10%) and megakaryocytic hyperplasia.

More tests followed. Ascitic fluid analysis was done suggestive of transudation and also negative for malignant cells. Lumbar puncture for CSF analysis done in the U.S. revealed a rise in protein without pleocytosis. After aligning clinical features with investigations, Dr. Sundarachary and post-graduate K. Deepthi concluded that the man was affected by POEMS/Castleman Syndrome.

The oncologist suggested bone marrow transplantation as the definitive treatment and the patient was referred to a centre with bone marrow transplantation facilities. The patient was started on chemotherapeutic drugs and is doing well now.

“We want to make a point that without proper symptom analysis and clinical examination, the diagnosis can be missed if importance is given to subtle changes in the imaging findings which probably were artificial. Further, it highlights the importance of history and clinical examination in the modern era of technological advances,” summed up Dr. Sundarachary.

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