Browse

You are looking at 1 - 3 of 3 items for :

  • Unique/unexpected symptoms or presentations of a disease x
  • Signs and Symptoms x
  • Asian - Indian x
  • Open access x
Clear All
Open access

Soham Mukherjee, Anuradha Aggarwal, Ashu Rastogi, Anil Bhansali, Mahesh Prakash, Kim Vaiphei, and Pinaki Dutta

Summary

Spontaneous diabetic muscle infarction (DMI) is a rare and under diagnosed complication of diabetes mellitus. Clinically it presents with acute to subacute onset swelling, pain and tenderness of muscle(s) without systemic manifestations. MRI is helpful in diagnosis, exclusion of other causes and for localization of affected muscle for biopsy in atypical cases. Muscles of the thighs are commonly affected in diabetic myonecrosis (DMN). Here we present the summary of four cases seen in the last 3 years in a tertiary care centre with simultaneous or sequential involvement of multiple groups of muscles or involvement of uncommon sites. All these patients had advanced duration of diabetes with microvascular complications and poor glycemic control. Conservative management including rest and analgesics is the treatment of choice. Short-term prognosis is good but there may be recurrence.

Learning points

  • A high index of suspicion is required for the diagnosis of DMN which can avoid inadvertent use of antibiotics.
  • Acute–subacute onset severe focal muscle pain in the absence of systemic symptoms in a female patient with long-standing diabetes with microvascular complications suggests DMI.
  • MRI is the most sensitive test for diagnosis.
  • Muscle biopsy should be reserved for atypical cases.
  • Conservative management including rest and analgesics has good outcome.
  • Improvement usually occurs within 6–8 weeks, but there may be recurrence.

Open access

Shweta Birla, Sameer Aggarwal, Arundhati Sharma, and Nikhil Tandon

Summary

Carney complex (CNC) is a rare autosomal dominant syndrome characterized by pigmented lesions of the skin and mucosae along with cardiac, endocrine, cutaneous, and neural myxomatous tumors. Mutations in the PRKAR1A gene have been identified in ∼70% of the CNC cases reported worldwide. A 30-year-old male was referred to the endocrinology clinic with suspected acromegaly. He had a history of recurrent atrial myxoma for the past 8 years for which he underwent repeated surgeries. Presently, he complained of having headache, excessive snoring, sweating, and also noticed increase in his shoe size. Evaluation for acromegaly revealed elevated levels of GH in random as well as in suppressed condition. Magnetic resonance imaging scan revealed enlarged sella with microadenoma in the left anterior pituitary. Screening of PRKAR1A gene was carried out for the patient, his parents and siblings who were available and willing to undergo the test. The patient was diagnosed to have the rare CNC syndrome characterized by recurrent atrial myxoma and acromegaly due to a novel 22 bp insertion mutation in PRKAR1A which was predicted to be deleterious by in silico analysis. Screening the available family members revealed the absence of this mutation in them except the elder brother who also tested positive for this mutation. The present study reports on a novel PRKAR1A insertion mutation in a patient with acromegaly and left atrial myxoma in CNC.

Learning points

  • Identification of a novel deleterious PRKAR1A insertion mutation causing CNC.
  • It is important that patients with cardiac myxoma be investigated for presence of endocrine overactivity suggestive of CNC.
  • PRKAR1A mutation analysis should be undertaken in such cases to confirm the diagnosis in the patients as well as first degree relatives.
  • This case highlights an important aspect of diagnosis, clinical course, and management of this rare condition.

Open access

Pramila Dharmshaktu, Aditya Kutiyal, and Dinesh Dhanwal

Summary

A 21-year-old female patient recently diagnosed with severe hypothyroidism was found to have a large ovarian cyst. In view of the large ovarian cyst, she was advised to undergo elective laparotomy in the gynaecology department. She was further evaluated in our medical out-patient department (OPD), and elective surgery was withheld. She was started on thyroxine replacement therapy, and within a period of 4 months, the size of the cyst regressed significantly, thereby improving the condition of the patient significantly. This case report highlights the rare and often missed association between hypothyroidism and ovarian cysts. Although very rare, profound hypothyroidism that can cause ovarian cysts in an adult should always be kept in the differential diagnosis to avoid unnecessary ovarian surgery.

Learning points

  • Hypothyroidism should be considered in the differential diagnosis of adult females presenting with multicystic ovarian tumours.
  • Adequate thyroid hormone replacement therapy can prevent these patients from undergoing unnecessary and catastrophic ovarian resection.
  • Surgical excision should be considered only when adequate thyroid replacement therapy fails to resolve ovarian enlargement.
  • In younger women with ovarian cysts, it is also desirable to avoid unnecessary surgery so as to not compromise fertility in the future.