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BackgroundPrimary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hyperplasia or rarely carcinoma.Case presentationA 12 year old Sri Lankan girl presented with progressive difficulty in walking since 1 year. On examination she had bilateral genu valgum. Skeletal survey revealed valgus deformity of knee joints, bilateral subluxation of upper femoral epiphysis(SUFE), epiphyseal displacement of bilateral humeri, rugger jersey spine and subperiosteal bone resorptions in lateral aspects of 2nd and 3rd middle phalanges. There were no radiological manifestations of rickets. Metabolic profile revealed hypercalcemia with hypophosphatemia. Intact parathyroid hormone levels were elevated at 790 pg/ml. Vitamin D levels were deficient. She had low bone mineral density with Z score of −3.4. Vitamin D supplementation resulted in worsening of hypercalcemia without reduction in PTH levels. Tc 99 Sestamibi uptake scan showed abnormal tracer retention in left inferior pole of thyroid. A large parathyroid gland was removed with histology favoring parathyroid adenoma. Post operatively she developed hypocalcemia. Bilateral osteotomy was done for SUFE and further surgeries for correction of limb deformities planned.ConclusionPHPT in children is usually diagnosed late when irreversible organ damage has occurred. Children can present with non specific symptoms involving gastrointestinal, musculoskeletal, renal and neurological systems. PHPT can cause disarray in bone and epiphysis in children during pubertal growth spurt. Genu valgum and SUFE are rare skeletal manifestations in PHPT and only 10 cases of genu valgum and 9 cases of SUFE have been reported up to now. So far no cases have been reported on epiphyseal displacement of humeri. Awareness regarding the occurrence of these rare skeletal manifestations especially during puberty is important for early diagnosis to prevent irreversible outcomes.

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He denied any other constitutional symptoms, postural dizziness, pigmentation or any other symptoms suggestive of hypocortisolaemia. There were no skin lesions nor was there any history of constipation, perioral numbness or dyspeptic symptoms suggestive of hyperparathyroidism. There was no family history of any pituitary, adrenal or pancreatic tumours. The patient had never undergone abdominal surgeries and had never received insulin injections or medicines such as sulfhydryl compounds. There was no history of diabetes. ABSTRACTInsulin autoimmune syndrome (IAS, Hirata disease) is a rare cause of hypoglycaemia in countries other than Japan and Korea. It is a syndrome of hypoglycaemia with elevated insulin and insulin antibody levels. Although there is a genetic basis to the disease, many drugs and autoimmune conditions such as Graves' disease have been implicated in the pathogenesis. Here we report two cases of IAS identified in Sri Lanka. Case 1:A 47-year-old previously healthy male patient presented with neuroglycopenic symptoms and seizures with low blood glucose levels in a background of high insulin levels. Conventional imaging was negative for a pancreatic tumour. Calcium stimulation testing revealed very high basal insulin levels from all regions of the pancreas. Insulin antibodies were above the normal levels. A diagnosis of IAS was made and steroids and frequent small meals containing complex carbohydrates was started as treatment. In spite of treatment, the patient continued to have high insulin levels, but free of symptoms. Case 2:A 37-year-old female with Graves' disease who was treated with carbimazole, presented with hypoglycaemic episodes that occur 4 to 6 hours after meals. Investigations revealed high insulin levels in the presence of hypoglycaemia, which occurred 6 hours into the prolonged fasting test. Imaging by CT, MRI and endoscopic ultrasonography yielded negative results. She had very high insulin autoantibody levels. A diagnosis of IAS secondary to carbimazole was made and the anti-thyroid drugs were withdrawn. Her symptoms resolved and her biochemistry got normalized with drug withdrawal.

The granulation pattern of somatotroph adenomas is well known to be associated with differing clinical and biochemical characteristics, and it has been shown that sparsely granulated tumours respond poorly to commonly used somatostatin receptor ligands (SRLs). We report a challenging case of acromegaly with a sparsely granulated tumour resistant to multiple modalities of treatment, ultimately achieving biochemical control with pasireotide. A 26-year-old lady presented with classical features of acromegaly, which was confirmed by an oral glucose tolerance test. Insulin-like growth factor 1 (IGF1) was 1710 µg/L (103–310 µg/L) and mean growth hormone (GH) was >600 U/L. MRI scan showed a 4 cm pituitary macroadenoma with suprasellar extension and right-sided cavernous sinus invasion. She underwent trans-sphenoidal pituitary surgery. Histology displayed moderate amounts of sparsely granular eosinophilic cytoplasm, staining only for GH. Postoperative investigations showed uncontrolled disease (IGF1:1474 µg/L, mean GH:228 U/L) and residual tumour in the cavernous sinus. She received external beam fractionated radiation. Over the years, she received octreotide LAR (up to 30 mg), lanreotide (up to 120 mg) two weekly, cabergoline, pegvisomant and stereotactic radiosurgery to no avail. Only pegvisomant resulted in an element of disease control; however, this had to be stopped due to abnormal liver function tests. Fifteen years after the diagnosis, she was started on pasireotide 40 mg monthly. Within a month, her IGF1 dropped and has remained within the normal range (103–310 µg/L). Pasireotide has been well tolerated, and there has been significant clinical improvement. Somatostatin receptor subtyping revealed a positivity score of two for both sst5 and sst2a subtypes.Learning points:Age, size of the tumour, GH levels on presentation, histopathological type and the somatostatin receptor status of the tumour in acromegaly should be reviewed in patients who poorly respond to first-generation somatostatin receptor ligands.Tumours that respond poorly to first-generation somatostatin receptor ligands, especially sparsely granulated somatotroph adenomas, can respond to pasireotide and treatment should be considered early in the management of resistant tumours.Patients with membranous expression of sst5 are likely to be more responsive to pasireotide.

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