No abstract

SummaryNeonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disease. Children present within the first 6 months of life and more commonly in the first few weeks. Common presentation is poor feeding, polyuria, dehydration, lethargy, failure to thrive, hypotonia, gastrointestinal dysmotility, osteopenia and symptoms of respiratory distress due to a poorly developed chest cage. We present a case of a 2-month old girl with severe hypercalcemia and hyperparathyroidism. She was found to have a novel homozygous mutation in the acceptor splicing site of intron 4 (c.1378 -2A>G) of the calcium sensing receptor gene (CASR). This mutation causes frame shift deletion of exon 5 and insensitivity of CASR to calcium. The patient was treated with intravenous fluids, fruosemide, calcitonin, intravenous pamidronate and oral cinacalcet. She did not respond to medical treatment. Parathyroid gland imaging including ultrasound, MRI and sestamibi nuclear scan were not helpful in localizing the glands. Her symptoms resolved following total parathyroidectomy. She is being treated with alfacalcidiol and calcium supplements to maintain normal serum calcium and phosphate. She achieved her normal developmental milestones.KEY WORDS: neonatal severe hyperparathyroidism; calcium sensing receptor; parathyroidectomy.

Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria. We report 2 siblings with Donohue syndrome (cases 1, 2) with multiple clinical and biochemical characteristics. Both patients shared the same mutation and presented with intra-uterine growth restriction, failure to thrive, fasting hyperinsulinaemic hypoglycaemia and episodic post-prandial hyperglycaemia. Less common clinical features were also present, such as atrial septal defect and biventricular hypertrophy, clotting disorders, abnormal liver function tests and nephrocalcinosis. Interestingly, 2 previously unrecognized manifestations of the syndrome were also identified: severe gastrointestinal dysmotility (case 1) and exocrine pancreatic insufficiency (case 2). The co-existence of all the above clinical features makes these cases extremely rare. Gastrointestinal dysmotility should always be considered as a potentially fatal feature in patients with the syndrome, due to the complexity of the possible co-morbidities. In addition, our clinical experience for the first time suggests that pancreatic exocrine insufficiency may offer a possible explanation for the growth retardation observed in some patients with this syndrome. Our finding that replacement treatment with pancreatic enzymes improved weight gain (case 2) implies that all patients with Donohue syndrome should be investigated for exocrine pancreatic insufficiency.

Obesity is generally considered an adult disease, although there has been a constant increase in the prevalence of overweight and obese children in the last few decades. Childhood obesity is not limited to developed countries, with increasing numbers being reported from developing countries as well as from Saudi Arabia. Young populations with obesity suffer from similar comorbidities as obese adults, including type 2 diabetes mellitus, dyslipidemia, obstructive sleep apnea, polycystic ovarian syndrome, pseudotumor cerebri and fatty liver disease. Recent advances in weight loss surgery have given hope to obese adolescents who are refractory to lifestyle changes and low-calorie diet plans. This review emphasizes a holistic approach for obese adolescents and describes in detail a multidisciplinary team and their role in adolescent bariatric surgery. There are unique medical, psychological and nutritional requirements during the pre-operative, immediate post-operative and long-term phases to achieve a desirable outcome. Identification of an appropriate candidate for bariatric surgery is critical and must balance the risks and benefits of weight loss surgery. Different surgical procedures are available and should be tailored to the needs of the patient and the expertise of the surgeon.

No abstract