Paroxysmal strabismus and stridor acquired in childhood: Do not overlook calcemia!

International audienceHypocalcemia is known to induce stridor but was rarely reported to cause strabismus. We report the case of a 4-year-old girl who presented with paroxysmal stridor and strabismus with diplopia, persisting for several weeks. Severe hypocalcemia (1.25 mmol/L) was finally diagnosed and was related to hypoparathyroidism, which was the first manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in this patient. Strabismus and stridor both resolved after normalization of calcemia. This case report is a rare observation of paroxysmal strabismus caused by hypocalcemia and it highlights the importance of calcium monitoring in any situation of atypical neurological symptoms

Functional validation of a novel variant of the SPTAN1 gene identified in a family with distal motor myopathy with nerve involvement

International audienc