A rare case of "Brown tumor" of the axis with parathyroid adenoma and tertiary hyperparathyroidism.

"Brown tumors (BTs)" of the spine are benign rare lesions, seen in about 5%-13% of all patients with chronic hyperparathyroidism (HPT). They are not true neoplasms and are also known as osteitis fibrosa cystica or occasionally osteoclastoma. Radiological presentations are often misleading and may mimic other common lesions such as metastasis. A strong clinical suspicion is therefore necessary, especially in the background of chronic kidney disease with HPT and parathyroid adenoma. Surgical spinal fixation in case of instability due to pathological fracture may be required along with excision of the parathyroid adenoma being the treatment of choice, that maybe usually curative and carries a good prognosis. We would like to report one such rare case of BT involving the axis, or C2 vertebra, presenting with neck pain and weakness that was treated surgically. Only a few cases of spinal BTs have been reported so far in the literature. Involvement of cervical vertebrae and in particular C2 is rarer still with the one in this report only being the fourth such case.

The Nose that Broke the Hip! Tumor Induced Osteomalacia Secondary to Phosphaturic Mesenchymal Nasal Tumor : A Case Report.

Tumor induced osteomalacia is a rare paraneoplastic syndrome caused by usually small mesenchymal tumors. The tumors are commonly located in the extremities whereas occurrence in the nasal cavity is quite rare. An 18 year old male presented with asymmetric weakness of both lower limbs and difficulty in walking since one year. On evaluation he was found to have open femur head physes and iliac apophyses, low serum Phosphorus, low vitamin D, normal serum calcium, elevated PTH & alkaline phosphatase levels. FGF-23 levels in serum were elevated. DOTA NOC PET CT revealed tumor in the left nasal cavity abutting the nasal septum. Surgical excision of the tumor resulted in normalisation of the serum levels of phosphorus, vitamin D and FGF-23. This case report indicates the importance of maintaining high clinical suspicion and early detection of causative tumor using appropriate imaging techniques.

Cretinism presenting as a pseudotumour.

A 43-year-old man from a remote part of India (over 1800 km from our institution), presented with a headache of 3 years duration. He was of short stature, had delayed puberty and was mentally retarded. On evaluation he was detected to have primary hypothyroidism with markedly elevated thyroid-stimulating hormone titres. A CT of the brain revealed a large sellar mass with suprasellar extension into the third ventricle causing obstructive hydrocephalus. Surgical intervention was deferred due to absence of visual impairment and the presence of gross hypothyroidism. The clinical diagnosis of congenital hypothyroidism was confirmed by the absence of radioiodine uptake in the thyroid bed. With thyroid hormone replacement therapy, the 'tumour' underwent significant reduction in size with the resolution of hydrocephalus thereby favouring a potential pituitary pseudotumour. This was an unusual situation of a giant pituitary pseudotumour detected in an adult with untreated congenital hypothyroidism.

RET mutations in a large indian family with medullary thyroid carcinoma.

BACKGROUND: Medullary thyroid carcinoma (MTC) is a tumor arising from the para follicular (C) cells of the thyroid gland and can occur either sporadically or as part of an inherited syndrome. A proportion of these cases carry an autosomal dominant mutation in the RET (REarranged during Transfection) proto-oncogene. Screening for these mutations in the affected patients and the carriers "at risk" which includes the first-degree relatives is of utmost importance for early detection and prompt treatment including prophylactic thyroidectomy in cases that harbor these mutations. RESULTS: This report presents details of screening and subsequent follow-up of a large Indian family, where the index case was found to carry p. Cys634Ser mutation involving exon 11 of the RET gene. These data are of value considering the paucity of information within the region in context of screening large families affected by these mutations.

Congenital hypothyroidism presenting as menorrhagia in adulthood.

Although hypothyroidism is a common cause of menorrhagia, it is an uncommon presentation of congenital hypothyroidism. We report a case of congenital hypothyroidism presenting in adulthood with severe menorrhagia. Despite the late presentation, she had features to suggest hypothyroidism since birth.

Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature.

Gaucher disease is the most common lysosomal storage disorder. It is autosomal recessive in nature and results from mutations in the GBA gene coding for acid beta glucosidase. It is classified into three types based on CNS involvement and its severity. Type 3, or chronic neuronopathic Gaucher disease, generally has an onset in childhood and by definition, includes all patients with any form of neurologic involvement who have survived the first few years of life. Here we present a 36 year old male patient presenting with hip pain showing bilateral avascular necrosis of femoral head with massive splenomegaly and on evaluation, showed mental retardation, seizures, bilateral vertical and horizontal gaze palsies and eventually turned out to be type 3b Gaucher disease. This is the first case of Type 3 Gaucher disease being reported from India with mutation analysis and only case of Type 3 Gaucher disease in world literature showing R463C/Rec Nci I mutation.

Digital clubbing.

Digital clubbing is an ancient and important clinical signs in medicine. Although clubbed fingers are mostly asymptomatic, it often predicts the presence of some dreaded underlying diseases. Its exact pathogenesis is not known, but platelet-derived growth factor and vascular endothelial growth factor are recently incriminated in its causation. The association of digital clubbing with various disease processes and its clinical implications are discussed in this review.

Emesis in diabetes mellitus.

It is estimated that 20-40% of patients with diabetes, particularly those with prolonged duration of type 1 diabetes mellitus with other complications develop gastroparesis .We present in a picture quiz format the interesting case of an elderly lady presenting with diabetic gastroparesis in a tertiary care hospital in India.

Black adrenal adenoma: distinction from PPNAD.

A 22-year-old woman with features suggestive of Cushing's syndrome was found to have right adrenal mass on imaging studies. She had paradoxical rise in basal cortisol on dexamethasone suppression testing. Black adenoma of the right adrenal cortex, a pigmented adenoma consisting of compact cells with numerous pigments suggestive of melanin and lipofuscin was laproscopically removed from this patient. This case illustrates that in the setting of unilateral adrenal mass with paradoxical cortisol response with dexamethasone suppression testing, pigmented adrenal adenomas should be also suspected in addition to primary pigmented nodular adrenocortical disease.The decision to go with either unilateral or bilateral adrenalectomy should be based on the attributes of contralateral adrenal gland.

Tuberculosis cutis orificialis (TBCO): a rare manifestation of tuberculosis.

Tuberculosis of the oral cavity is a very rare disease and accounts for less than one percent of all cases of tuberculosis. Primary lesions are extremely rare. Presentation is as a single ulcer, may be painful, however multiple painless ulcers have been described. Tongue is the most common oral site involved. The palate, buccal mucosa, floor of the mouth, gingiva, and lips are other possible sites. We hereby report a case of TBCO, a very rare manifestation of tuberculosis.

Reassessment of elicitation of myoedema in evaluation of overt hypothyroidism: A pilot study.

INTRODUCTION: There is a need to reassess the significance of myoedema in evaluation of overt hypothyroidism in the current day clinical practice. It is commonly checked for by flicking across the biceps belly expecting a transient mound at the points of tactile stimuli with mild pressure. AIM AND OBJECTIVE: To assess elicitation of myoedema in overt hypothyroidism (defined arbitrarily as TSH >50 mIU/L in primary hypothyroidism and fT4 <0.6 ng/dl in secondary hypothyroidism). RESULTS: The 28 primary overt hypothyroid (OH) patients were divided into three groups as mild, moderate, and severe depending on TSH levels as those with 50-100, 100-150, and >150 mIU/L. Myoedema was elicited in 8 of 13 in the severe OH group, in 2 of 7 in moderate OH group and in 1 of 8 in the mild OH group. In the group of secondary hypothyroidism, myoedema was elicitable in one of two patients. The odds ratio for presence of both myoedema and clinical features of myopathy in a group of overt hypothyroid patients with TSH >150 mIU/L as compared to <150 mIU/L was 17.5. Similarly, the odds ratio for the presence of only myoedema was 6.4 while the odds ratio for presence of only clinical features of myopathy was 3.67. While the odds ratios involving presence of myoedema neared statistical significance, that with the presence of clinical features of myopathy alone did not. CONCLUSION: Examination for eliciting myoedema is useful when evaluating a case of overt hypothyroidism.

Profile of patients of leptospirosis in sub-Himalayan region of North India.

CONTEXT: Leptospirosis is an emerging zoonosis world wide; it is being reported in many areas of south-east Asia now. A recent surge in the number of patients with leptospirosis has been noted in the Sub-Himalayan region of North India which was uncommon. We present here a case series of 13 patients who were positive for leptospirosis either by IgM Elisa or PCR method. AIMS: To study the profile of leptospirosis in a sub-Himalayan state of North India i.e. Himachal Pradesh. SETTINGS AND DESIGN: This was a retrospective study of leptospira positive patients who were admitted in IGMC, Shimla. The study was conducted in Indira Gandhi Medical College, Shimla situated at a moderate altitude in North India. METHODS AND MATERIAL: All patients presenting in Medical College Hospital during three months from 1st August to 31st October who tested IgM positive or borderline or PCR positive for leptospirosis were taken into the study. Their presenting complaints, examination findings and lab findings were recorded and analyzed based on the Faine's criteria and modified Faine's criteria. Patients with clinical features of Leptospirosis and who tested positive for IgM Leptospirosis were taken as IgM lepto can be falsely positive. RESULTS: Out of total 13 patients there were 3 males and 10 females, age range was from 24 to 78 yrs and mean was 44 yrs. Predominant complaints were fever, jaundice, myalgia, and headache. All had contact with animals or contaminated environment. LFT's were deranged in 12 and renal functions were deranged in all. Ten had positive results for IgM against leptospira while 2 had borderline positive result. One patient was positive by PCR method using G1, G2 primers. Ten patients had Weil's syndrome and this was the main presentation of leptospirosis in our group, one had acute respiratory distress syndrome (ARDS) and needed ventilator. There were no deaths. All responded to injectable ceftriaxone and oral doxycycline. Applying Faine's criteria only 7 were positive, but using modified Faine's criteria all 13 were positive for leptospirosis. CONCLUSIONS: Leptospirosis was unexpectedly found to be positive in many of our patients who were having pyrexia during the monsoons. A recent surge has been noted in the number of cases with leptospirosis in this state. The possibility of co-infection especially with scrub typhus must be considered in cases with atypical presentation and severe illness. Most of the patients were from rural background with poor hygienic conditions. There was no mortality and main complication was Weil's syndrome in 77 percent.

Leptospirosis presenting as acute respiratory distress syndrome (ARDS) in sub-Himalayan region.

Indira Gandhi Medical College, Shimla receives referred patients of pyrexia with multi-organ dysfunction during the monsoon season from all over the state of Himachal Pradesh. Most common etiologies of pyrexia are enteric fever, scrub typhus, malaria, viral, tubercular, and some patients of dengue fever from adjoining states. Leptospirosis has not yet been reported in sub-Himalayan state of Himachal Pradesh, India. We present here a case of leptospirosis presenting as ARDS, proven on IgM Elisa and confirmed by PCR. Leptospirosis is a new etiology in this region for patients presenting with pyrexia and ARDS.