Search for other papers by Aneez Joseph in
Google Scholar
PubMed
Search for other papers by Kripa Elizabeth Cherian in
Google Scholar
PubMed
Search for other papers by Nitin Kapoor in
Google Scholar
PubMed
Search for other papers by Thomas V Paul in
Google Scholar
PubMed
Summary
Tenofovir-induced osteomalacia secondary to proximal renal tubular dysfunction is not an uncommon complication known to occur. A 46-year-old woman was referred for the evaluation of osteoporosis which was diagnosed elsewhere. She had polyarthralgia, bony pains and proximal muscle weakness of 1 year duration. She was diagnosed to have HIV infection and was on antiretroviral therapy that consisted of tenofovir, lamivudine and efavirenz for the past 12 years. She had attained menopause 5 years back. On examination, she had bone tenderness, proximal myopathy and painful restriction of movement of her lower limbs. Investigations showed features of renal tubular acidosis, hypophosphatemia and raised alkaline phosphatase that were suggestive of osteomalacia. X-ray of the pelvis showed diffuse osteopenia and an MRI of the pelvis done showed multiple insufficiency fractures involving the head of femur on both sides. Following this, her tenofovir-based regimen was changed to abacavir, efavirenz and lamivudine with addition of neutral phosphate supplements and calcitriol. On follow-up after 6 months, she had significant improvement in her symptoms as well as in the bone mineral density at the lumbar spine (33.2%), femoral neck (27.6%), trabecular bone score (13.2%) and reduction in the buckling ratio at the narrow neck (6.3%), inter-trochanteric region (34%) and femoral shaft (28.8%). Tenofovir-induced osteomalacia is encountered in individuals on prolonged treatment with tenofovir. Treatment consists of changing to a non-tenofovir-based regimen, as well as supplementation of phosphate and calcitriol. Treatment results in remarkable improvement in symptoms and most densitometric indices.
Learning points
-
Tenofovir is a nucleotide reverse transcriptase inhibitor (NRTI) and is a major drug in the treatment of retroviral and hepatitis B infections.
-
Tenofovir-related hypophosphatemic osteomalacia is related to proximal tubulopathy and is not an uncommon occurrence.
-
Treatment mandates changing to a non-tenofovir-based regimen with supplementation of neutral phosphate and calcitriol.
-
Treatment results in a significant improvement in bone mineral density, trabecular bone score and hip geometric parameters.
Search for other papers by Mohammed Anwar Hussain in
Google Scholar
PubMed
Search for other papers by Aneez Joseph in
Google Scholar
PubMed
Search for other papers by Vinoo Mathew Cherian in
Google Scholar
PubMed
Search for other papers by Alok Srivastava in
Google Scholar
PubMed
Search for other papers by Kripa Elizabeth Cherian in
Google Scholar
PubMed
Search for other papers by Nitin Kapoor in
Google Scholar
PubMed
Search for other papers by Thomas Vizhalil Paul in
Google Scholar
PubMed
Summary
Although bisphosphonates (BPs) are mainly used for the treatment of osteoporosis and are generally safe, long-term use and more dosage as utilised in malignant conditions may be associated with the rare adverse event of an atypical femoral fracture (AFF). Occasionally, the risk of developing an AFF persists long after BPs are withdrawn. A 39-year-old woman who underwent chemotherapy and an autologous stem cell transplantation for multiple myeloma presented to us with history of pain in the left thigh. She had received multiple doses of oral and parenteral BPs for about 10 years in view of the underlying myeloma with osteoporosis. Her investigations showed a suppressed CTX of 192 pg/mL, and radiograph of pelvis displayed thickened cortices with beaking of the left femoral shaft, which was suggestive of an AFF. Following discontinuation of BPs, she underwent prophylactic intra-medullary nailing with which her symptoms improved. Five years later, she presented with similar complaints on the right side. Investigations showed that her bone turnover continued to be suppressed with Cross linked C- Telopeptide of type 1 collagen (CTX) of 165 pg/mL and an X-ray done showed AFF on the right side despite being off BPs. A second intra-medullary nailing was done and on follow-up, she has been symptom-free and independent in her daily activities. Discontinuation of BPs may not prevent the incident second AFF and, therefore, thus warranting long-term follow-up.
Learning points
-
Regular screening and follow-up of patients who receive long-term bisphosphonate (BP) therapy should be done.
-
Discontinuation of BPs does not preclude the possibility of repeated occurrence of a second AFF.
-
Long-term BP therapy warrants regular monitoring and follow-up should an AFF occur
Search for other papers by Durgesh Prasad Chaudhary in
Google Scholar
PubMed
Search for other papers by Tshristi Rijal in
Google Scholar
PubMed
Search for other papers by Kunal Kishor Jha in
Google Scholar
PubMed
Search for other papers by Harpreet Saluja in
Google Scholar
PubMed
Summary
Combined pituitary hormonal deficiency (CPHD) is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells. PROP1 gene mutations are one of the etiological diagnoses of congenital panhypopituitarism, however symptoms vary depending on phenotypic expression. We present a case of psychosis in a 36-year-old female with congenital panhypopituitarism who presented with paranoia, flat affect and ideas of reference without a delirious mental state, which resolved with hormone replacement and antipsychotics. Further evaluation revealed that she had a homozygous mutation of PROP1 gene. In summary, compliance with hormonal therapy for patients with hypopituitarism appears to be effective for the prevention and treatment of acute psychosis symptoms.
Learning points:
-
Patients with PROP1 gene mutation may present with psychosis with no impairment in orientation and memory.
-
There is currently inadequate literature on this topic, and further study on the possible mechanisms of psychosis as a result of endocrine disturbance is required.
-
Compliance with hormonal therapy for patients with hypopituitarism appears to be effective for prevention and treatment of acute psychosis symptoms.
Search for other papers by Nishant Raizada in
Google Scholar
PubMed
Search for other papers by S H Rahaman in
Google Scholar
PubMed
Search for other papers by D Kandasamy in
Google Scholar
PubMed
Search for other papers by V P Jyotsna in
Google Scholar
PubMed
Summary
Insulin autoimmune syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycaemia, which is known to occur in association with the use of sulfhydryl-containing drugs and autoimmune disorders. We describe a patient with hitherto an unreported association of IAS with ankylosing spondylitis. We have also performed and described a simplified method of polyethylene glycol (PEG) precipitation of an insulin bound antibody in the serum.
Learning points
-
IAS should be considered in differential diagnosis of endogenous hyperinsulinemic hypoglycaemia.
-
Ankylosing spondylitis can be associated with IAS apart from several other autoimmune diseases.
-
Very high serum insulin levels (100–10 000 μU/ml) are frequently seen in IAS.
-
When faced with very high serum insulin before suspecting insulinoma, it is advisable that PEG precipitation of serum be done to identify antibody bound insulin.
-
A clinical suspicion of IAS can avoid expensive imaging and unnecessary surgery in affected patients.
Search for other papers by Soham Mukherjee in
Google Scholar
PubMed
Search for other papers by Anuradha Aggarwal in
Google Scholar
PubMed
Search for other papers by Ashu Rastogi in
Google Scholar
PubMed
Search for other papers by Anil Bhansali in
Google Scholar
PubMed
Search for other papers by Mahesh Prakash in
Google Scholar
PubMed
Search for other papers by Kim Vaiphei in
Google Scholar
PubMed
Search for other papers by Pinaki Dutta in
Google Scholar
PubMed
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.
Search for other papers by Manas Ghosh in
Google Scholar
PubMed
Search for other papers by Ambarish Bhattacharya in
Google Scholar
PubMed
Search for other papers by Kaushik Ghosh in
Google Scholar
PubMed
Search for other papers by Atri Chatterjee in
Google Scholar
PubMed
Search for other papers by Sisir Chakraborty in
Google Scholar
PubMed
Search for other papers by Sanat Kumar Jatua in
Google Scholar
PubMed
Summary
Motor neuron disease (MND) is a progressive devastating neurodegenerative disease, which universally progresses towards death. Hence, every attempt should be made to find out if there are any treatable conditions, which can mimic MND. Herein, we describe a case of hypercalcaemia due to primary hyperparathyroidism confused as MND and subsequently cured with parathyroid surgery.
Learning points
-
Any patient with neurological disorder should have a screening of all the common electrolytes including calcium as electrolyte imbalance can present with paralysis (e.g. hypokalaemia) to amyotrophic lateral sclerosis (e.g. hypercalcaemia).
-
No patient should be stamped as having MND without having a proper work-up of all its differentials as there might be a treatable condition masquerading as MND.
Search for other papers by Shweta Birla in
Google Scholar
PubMed
Search for other papers by Sameer Aggarwal in
Google Scholar
PubMed
Search for other papers by Arundhati Sharma in
Google Scholar
PubMed
Search for other papers by Nikhil Tandon in
Google Scholar
PubMed
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.
Search for other papers by Pinaki Dutta in
Google Scholar
PubMed
Search for other papers by Anuradha Aggarwal in
Google Scholar
PubMed
Search for other papers by Yashpal Gogate in
Google Scholar
PubMed
Search for other papers by Uma Nahar in
Google Scholar
PubMed
Search for other papers by Viral N Shah in
Google Scholar
PubMed
Search for other papers by Mandeep Singla in
Google Scholar
PubMed
Search for other papers by N Khandelwal in
Google Scholar
PubMed
Search for other papers by Anil Bhansali in
Google Scholar
PubMed
Summary
We describe the clinical presentation, diagnostic and management issues in five cases of non-islet cell tumor hypoglycemia (NICTH), diagnosed at a tertiary care institute over a period of 15 years. The clinical, laboratory, and histopathological findings of these patients along with diagnostic utility of IGF2:IGF1 ratio are discussed. The mean age of presentation was 52 years, with a male predominance (3:2). Three patients presented with recurrent episodes of fasting hypoglycemia and it was detected in other two patients during hospitalization. Two patients had acromegaloid features that regressed following treatment. One patient had hypokalemia. Low levels of insulin, C-peptide, GH, and IGF1 were invariably found in all. The IGF2 level was elevated in only one patient; however, IGF2:IGF1 ratio was more than 10 in four of the five patients. The mean tumor size was 16.4 cm and mean weight was 3.6 kg. Four patients had mesenchymal tumors and one had epithelial tumor. NICTH is a rare cause of hypoglycemia. Hypoinsulinemic hypoglycemia with low IGF1 and IGF2:IGF1 ratio more than 10 is suggestive of this entity.
Learning points
-
NICTH should be considered in patients presenting with tumor of mesenchymal origin and hypoglycemia.
-
Hypoinsulinemic hypoglycemia with low IGF1 is a strong biochemical evidence of NICTH.
-
IGF2:IGF1 ratio of more than 10 is a complementary investigation in the absence of an assay facility for IGF2.
Search for other papers by Jayshree Swain in
Google Scholar
PubMed
Search for other papers by Shruti Sharma in
Google Scholar
PubMed
Search for other papers by Ved Prakash in
Google Scholar
PubMed
Search for other papers by N K Agrawal in
Google Scholar
PubMed
Search for other papers by S K Singh in
Google Scholar
PubMed
Summary
Ovarian steroid cell tumors are very rare functioning sex-cord stromal tumors. They comprise <0.1% of all ovarian tumors. Previously designated as lipoid cell tumors, one-third of these tumors are considered malignant with the mean age of presentation at around 40 years. We present a case of a 28-year-old female with 2-year history of hirsutism, virilization, and amenorrhea. She was diagnosed with left ovarian tumor, for which she underwent left salpingo-oophorectomy. Histopathology revealed not otherwise specified subtype of steroid cell tumors. The patient resumed menses 2 months after the features of masculinization regressed. Within 1 year of surgery, the patient successfully conceived a full-term baby without any complications. In a young female, the neoplastic etiology of a rapid virilization or menses changing should always be kept in mind. Though commonly observed in adult females, steroid cell tumors have very good surgical outcomes if age at presentation is less and tumor is unilateral, and there are no evidences of bilateral malignancy. Bilateral salpingo-oophorectomy is not required.
Learning points
-
In a case of severe rapid hirsutism and virilization with serum testosterone level more than 200 ng/dl or more than threefold of the normal range, neoplastic conditions should always be suspected.
-
Steroid cell tumor in young women without evidence of malignancy on histopathology has excellent surgical outcomes.
-
Unilateral salpingo-oophorectomy is the surgery of choice.
-
As the frequency of bilateralism is only 6%, prophylactic unaffected side oophorectomy need not be done.
Search for other papers by Deep Dutta in
Google Scholar
PubMed
Search for other papers by Chitra Selvan in
Google Scholar
PubMed
Search for other papers by Manoj Kumar in
Google Scholar
PubMed
Search for other papers by Saumik Datta in
Google Scholar
PubMed
Search for other papers by Ram Narayan Das in
Google Scholar
PubMed
Search for other papers by Sujoy Ghosh in
Google Scholar
PubMed
Search for other papers by Satinath Mukhopadhyay in
Google Scholar
PubMed
Search for other papers by Subhankar Chowdhury in
Google Scholar
PubMed
Summary
Parathyroid cysts are rare (0.8–3.41% of all parathyroid lesions) and usually arise secondary to cystic degeneration of parathyroid adenomas. Intrathyroidal parathyroid cysts are extremely rare with only three cases reported till date. We present a 24-year-old female with clinical and biochemical features of primary hyperparathyroidism (PHPT; Ca2 +: 12.1 mg/dl; intact parathyroid hormone (iPTH): 1283 pg/ml) and poor radiotracer uptake with minimal residual uptake in the left thyroid lobe at 2 and 4 h on Tc99m sestamibi imaging. Neck ultrasonography (USG) revealed 0.6×1 cm parathyroid posterior left lobe of thyroid along with 22×18 mm simple thyroid cyst. USG-guided fine-needle aspiration (FNA) and needle tip iPTH estimation (FNA-iPTH) from parathyroid lesion was inconclusive (114 pg/ml), necessitating FNA of thyroid cyst, which revealed high iPTH (3480 pg/ml) from the aspirate. The patient underwent a left hemithyroidectomy. A >50% drop in serum iPTH 20 min after left hemithyroidectomy (29.4 pg/ml) along with histopathology suggestive of intrathyroidal cystic parathyroid adenoma (cystic lesion lined by chief cell variant parathyroid cells without any nuclear atypia, capsular or vascular invasion surrounded by normal thyroid follicles) confirmed that the parathyroid cyst was responsible for PHPT. This report highlights the importance of FNA-iPTH in localizing and differentiating a functional parathyroid lesion from nonfunctional tissue in PHPT.
Learning points
-
Fine-needle aspiration from suspected parathyroid lesion and needle tip iPTH (FNA-iPTH) estimation from the saline washing has an important role in localizing primary hyperparathyroidism (PHPT).
-
FNA-iPTH estimation may help in differentiating functional from nonfunctional parathyroid lesion responsible for PHPT.
-
iPTH estimation from aspirate of an intrathyroid cyst is helpful in differentiating intrathyroidal parathyroid cyst from thyroid cyst.
