A video-based discussion of movement disorders in paediatric anti NMDAR encephalitis: A case series from Eastern India.

Purpose: The spectrum of movement disorders associated with anti N-Methyl-d-Aspartate-Receptor (NMDAR) encephalitis is myriad, particularly in children, possibilities of which were investigated from two tertiary care centres.

Methods: A retrospective study was conducted in two tertiary referral centres in Eastern India, analysing data of 8 paediatric patients diagnosed as anti NMDAR encephalitis, presenting with one or more movement disorders (MDs).

Results: All the patients were of Bengali ethnicity with a median age of 9 years (3-16 years) and with female predilection (62.

Cushing's syndrome in early infancy due to isolated sporadic bilateral micronodular adrenocortical disease associated with myosin heavy chain 8 mutation: diagnostic challenges, too many!

Endogenous Cushing's syndrome (CS) is rare in infancy. Bilateral micronodular adrenocortical disease (BMAD), either primary pigmented nodular adrenocortical disease or the non-pigmented isolated micronodular adrenocortical disease is an important aetiology of CS in this age group, which requires bilateral adrenalectomy for cure. BMAD may be isolated, or a component of Carney complex.

Differentiating 11β-hydroxylase deficiency from primary glucocorticoid resistance syndrome in male precocity: real challenge in low-income countries.

Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency (11-BHD) and primary glucocorticoid resistance syndrome (PGRS) are two relatively uncommon causes of gonadotropin-releasing hormone-independent isosexual male precocity; PGRS, however, is considerably rarer than 11-BHD. Other than serum and urinary cortisol, which are elevated in PGRS and low/low-normal in 11-BHD, both of these conditions are indistinguishable by clinical, biochemical or radiological parameters. In 11-BHD, oxidation of 11-deoxycortisol (11-DOC) to cortisol is impaired, resulting in accumulation of 11-DOC and other cortisol precursors.