Clue to the diagnosis on chest X-ray in a child with neck swelling.

Differentiated thyroid cancer is a rare disease in children and adolescents and manifests exclusively in the form of papillary thyroid cancer (PTC). We present a rare case of PTC who presented initially with lung symptoms and miliary nodules on chest X-ray. This case emphasises the important differential of miliary mottling of the lungs.

Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association.

Metabolic disorders, although rare, can involve multiple organ systems and have a varied presentation. Renal involvement has been reported in several metabolic disorders in the pediatric age group. We report a rare metabolic disorder, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, in a child who developed steroid-resistant nephrotic syndrome at the age of 5 years. Renal biopsy showed features of collapsing glomerulopathy. The child had progressive chronic kidney disease. Alternative immunosuppressants including tacrolimus failed to show any clinical improvement. There have been no reports of children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency developing steroid-resistant nephrotic syndrome and collapsing glomerulopathy. This case highlights the need to monitor renal function and proteinuria among this group of children.

Early diagnosis in familial glucocorticoid deficiency.

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive condition, characterized by marked atrophy of zona fasiculata and reticalaris with preservation of zona glomerulosa. Out of more than 50 published cases, 18 patients died as a result of glucocorticoid insufficiency. The main objective of this report is to emphasize the early diagnosis and treatment in our 17 month-old patient. Her presenting features following an upper respiratory tract infection were hypoglycemia, seizures as well as deep hyperpigmentation of the limbs and lips. A low cortisol concentration, elevated ACTH level and normal electrolytes and aldosterone level all supported the diagnosis of primary glucocorticoid deficiency. Parents were counseled about the diagnosis, management and the lifelong requirement of steroids. FGD is an easily treatable disease when recognized but frequently missed due to a non-specific presentation. FGD is a treatable disease, delayed diagnosis and treatment can lead to significant morbidity.