The phenotypic spectrum of syndromic optic atrophy associated with variants in : with reclassification of p.Val606Gly as a likely benign variant.

Introduction: Wolfram syndrome due to bi-allelic variants in and mono-allelic Wolfram-like syndrome have variable ocular and syndromic associations. In this report, eight patients are described.

Methods: A retrospective observational case series with detailed ophthalmic and systemic phenotyping, optical coherence tomography (OCT), and neuroimaging.

Initial growth deceleration during GnRH analogue therapy for precocious puberty.

Objectives: To compare the efficacy of goserelin and leuprolide on initial deceleration of growth and weight gain during the first 12 months of GnRH analogue treatment for precocious puberty.

Design: Retrospective cohort analysis.

Patients: Forty children with precocious puberty treated with either goserelin or leuprolide (33 females, mean age 7.

Massive hepatic hemangioendothelioma and consumptive hypothyroidism.

Hypothyroidism was diagnosed in an infant with massive hepatic hemangioendothelioma. Markedly elevated serum reverse-triiodothyronine levels confirmed consumptive hypothyroidism. Large doses of thyroxine were initially required to normalise TSH.